Chromosome instability syndromes: Lessons for carcinogenesis

Current Topics in Microbiology and Immunology

Volumn 221, Issue , 1997, Pages 71-148

  Meyn, M S ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LYMPHOKINE; REACTIVE OXYGEN METABOLITE; SUPEROXIDE DISMUTASE;

APOPTOSIS; CANCER; CARCINOGENESIS; CELL CYCLE; DNA DAMAGE; FANCONI ANEMIA; HUMAN; IMMUNE DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0031060263     PISSN: 0070217X     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-3-642-60505-5_6     Document Type: Review

References (493)

1. Adler-Brecher B, Zhang Q, Flit Y, Gray DL, Beaver HA, Reid JE, Auerbach AD (1992) Prenatal diagnosis of Fanconi anemia in monozygotic twin boys with discordant phcnotypc. Am J Hum Genet 51: A251
2. Agamanolis DP, Grcenstein JI (1979) Ataxia-telangiectasia: report of a case with Lewy bodies and vascular abnormalities within cerebral tissue. J Ncuropathol Exp Neurol 39: 475-489
3. Aguilar MJ, Kamoshita S, Landing BH, Boder E, Sedgwick RP (1968) Pathological observations in ataxia-telangicctasia. A report on 5 cases. J Neuropathol Exp Neurol 27: 659-676
4. Albrecht S, von Deimling A, Pictsch T, Giangaspero F, Brandner S, Kleihues P, Wiestier ÖD (1994) Microsatellite analysis of loss of heterozygosity on chromosome 9q, lip and 17p in mcdullo-blastomas. Ncuropathol AppI Neurobiol 20: 74-81
5. Alimena G, Avvisati G, DC Cuia MR, Gallo E, Novell! G, Dallapiccola B (1983) Retrospective diagnosis of a Fanconi's anemia patient by dyepoxybutane (DEB) test results in parents. Haematologica 68: 97-103
6. Allen C, Mcyn MS (1995) A low threshold for mutagen-induced apoptosis in Fanconi anemia cells. Am J Hum Genet 57: A46
7. Allay C, Sevgi Y, Pirnar T (1975) Letter: Fanconf's anemia in offspring of patient with congenital radial and carpal hypoplasia. N Engl J Med 293: 151-152
8. Alter BP (1992) Fanconi's anemia. Current concepts. Am J Pcdiatr Hematol Oncol 14: 170-176
9. Alter BP (1994a) Clinical features of Fanconi's anemia. In: Young NS, Alter BP (eds) Aplastic anemia: acquired and inherited. Saundcrs, Philadelphia, pp 275-309
10. Alter BP (1994b) Inherited bone marrow failure syndromes: introduction. In: Young NS, Alter BP (eds) Aplastic anemia: acquired and inherited. Saundcrs, Philadelphia, pp 271-274
11. Alter BP (1994c) Pathophysiology of Fanconi's anemia. In: Young NS, Alter BP (eds) Aplastic anemia: acquired and inherited. Saunders, Philadelphia, 310-324
12. Alter BP, Scalise A, McCombs J, Najfeld V (1993) Clonal chromosomal abnormalities in Fanconi's anemia: what do they really mean? Br J Haematol 85: 627-630
13. Amromin GD, Boder E, Teplitz R (1979) Ataxia-telangiectasia with a 32 year survival. A clin-icopathological report. J Neuropathol 38: 621-643
14. Anderson CW (1993) DNA damage and the DNA-activatcd protein kinase. Trends Biochem Sci 18:433-437
15. Arlctt CF, Harcourt SA (1978) Cell killing and mutagenesis in repair-defective human cells. In: Hanawalt PC, Fried berg EC, Fox CF (eds) DNA repair mechanisms. Academic, New York, pp 633-636
16. Arlett CF, Harcourt SA (1980) Survey of radiosensitivity in a variety of human cell strains. Cancer Res 40: 926-932
17. Arlett CF, Priestley A (1985) An assessment of the radiosensitivity of ataxia-telangiectasia hétérozygotes. In: Gatti RA, Swift M (eds) Ataxia-telangiectasia: genetics, ncuropathology, and immunology of a degenerative disease of childhood. Liss, New York, pp 101-109
18. Arlctt CF, Green MH, Priestley A, Harcourt SA, Mayne LV (1988) Comparative human cellular radiosensitivity. I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and form ataxia-telangiectasia patients and hétérozygotes. Int J Radiât Biol 54: 911-928
19. Arlett CF, Cole J, Green MHL (1989) Radiosensitive individuals in the population. In: Baverstock KF, Slather JW (eds) Low dose radiation: biological bases of risk assessment. Taylor and Francis, London, pp 240-252
20. Aucrbach AD (1993) Fanconi anemia diagnosis and the dicpoxybutanc (DEB) test (editorial). Exp Hematol 21: 731-733
21. Auerbach AD (1995) Fanconi anemia. Dermatol Clin 13: 41-49
22. Aucrbach AD, Alien RG (1991) Leukemia and prelcukemia in Fanconi anemia patients. A review of the literature and report of the International Fanconi Anemia Registry. Cancer Genet Cytogenet 51: 1-12
23. Auerbach AD, Wolman SR (1976) Susceptibility of Fanconi's anemia fibroblasts to chromosome damage by carcinogens. Nature 261: 494-496
24. Auerbach AD, Wolman SR (1978) Carcinogen-induced chromosome breakage in Fanconi's anaemia heterozygous cells. Nature 271: 69-71
25. Auerbach AD, Wolman S (1979) Carcinogen-induced chromosome breakage in chromosome instability syndromes. Cancer Genet Cytogenet 1: 21-28
26. Auerbach AD, Adler B, Chaganti RS (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67: 128-135
27. Auerbach AD, Rogatko A, Schroeder-Kurth TM (1989) International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood 73: 391-396
28. Aurias A, Dutrillaux B (1986) Acquired inversions in human leucocytes. Ann Genet (Paris) 29: 203-206
29. Aurias A, Dutrillaux B, Buriot D, Lejeune J (1980) High frequencies of inversions and translocations of chromosome 7 and 14 in ataxia telangicctasia Mutât Res 69: 369-374
30. Aurias A, Antoine J-L, Assathiany R, Odievre M, Dutrillaux B (1985a) Radiation sensitivity of Bloom's syndrome lymphocytes during S and G2 phases. Cancer Genet Cytogenet 16: 131-136
31. Aurias A, Dutrillaux AM, Dutrillaux B, Herpin F, Lamoliatte E, Lombard M, Muleris M, Paravatou M, Prieur M, Prod'hommc M, Sportes M, Vicgas-Pcquignot E, Voloboricv V (1985b) Inversion (14) (q!2qter) or (qll.2q32.3): the most frequently acquired rearrangement in lymphocytes. Hum Genet 71: 19-21
32. Austin CA, Sng JH, Patel S, Fisher LM (1993) Novel HeLa topoisomerase II is the II beta isoform: complete coding sequence and homology with other type II topoisomerases. Biochim Biophys Acta 1172:283-291
33. Averbcck D, Averbeck S (1985) Genotoxic effects of mono-and bifunctional furocoumarins in yeast: involvement of DNA photoaddition and oxygen dependent reactions. In: Bensasson RV, Jori G, Land FD, Truscott TG (cds) Primary photo-processes in biology and medicine. Plenum, New York, pp 295-300
34. Bagby GC, Jr., Segal GM, Auerbach AD, Onega T, Keeble W, Heinrich MC (1993) Constitutive and induced expression of hematopoietic growth factor genes by fibroblasts from children with Fanconi anemia. Exp Hematol 21: 1419-1426
35. Bagnara GP, Bonsi L, Strippoli P, Ramenghi U, Timeus F, Bonifazi F, Bonafe M, Tonelli R, Bubola G, Brizzi MF et al (1993) Production of interleukin 6, leukemia inhibitory factor and granulocytemacrophage colony stimulating factor by peripheral blood mononuclear cells in Fanconi's anemia. Stem Cells (Dayt) 11 [Suppl 2]: 137-143
36. Baker SJ, Reddy EP (1996) Transducers of life and death: TNF receptor superfamily and associated proteins. Oncogene 12: 1-10
37. Bale AE, Gailani MR, Leffell DJ (1994) Nevoid basal cell carcinoma syndrome. J Invest Dermatol 103: I26S-130S
38. Bargman GJ, Shahidi NT, Gilbert EF, Opitz JM (1977) Studies of malformation syndromes of man. XLVII. Disappearance of spermatogonia in the Fanconi anemia syndrome. Eur J Pcdiatr 125: 163-168
39. Bartram CR, Koske-Westphal T, Passarge E (1976) Chromatid exchanges in ataxia telangiectasia, Bloom v syndrome, Werner syndrome, and xeroderma pigmentosum. Ann Hum Genet 40: 79-86
40. Bates PR, Lavin MF (1989) Comparison of gamma-radiation-induccd accumulation of ataxia tel-angiectasia and control cells in G2 phase. Mutât Res 218: 165-170
41. Battista JR, Donnelly CE, Ohta T, Walker GC (1990) The SOS response and induced mutagenesis. Prog Clin Biol Res 340A: 169-178
42. Baumann T (1951) Konstitutionelle Panmyelopathosc mit multiplen Abartungen (Fanconi-Syndrome) Ann Paediatr (Basel) 177: 142-174
43. Beamish H, Lavin MF (1994) Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delay. Int J Radial Biol 65: 175-184
44. Begg AC, Russell NS, Knakan H, Lebesque JV (1993) Lack of correlation of human fibroblast radiosensitivity in vitro with early skin reactions in patients undergoing radiotherapy. Int J Radiât Biol 64: 393-405
45. Bender BA, Rary JM, Kale RP (1985) G2 chromosomal radiosensitivity in ataxia telangiectasia lymphocytes. Mutât Res 152: 39-47
46. Bennctt CB, Rainbow AJ (1988) Delayed expression of enhanced reactivation and decreased mutagenesis of UV-irradiatcd adenovirus in UV-irradiated ataxia telangiectasia fibroblasts. Mutagenesis 3:389-395
47. Berger R, Coniat ML (1989) Cytogenetic studies in Fanconi anemia induced chromosomal breakage and cytogenetics. In: Schroeder-Kurth TM, Auerbach AD, Obc G (eds) Fanconi anemia. Springer, Berlin Heidelberg New York, pp 93-99
48. Berger R, Bernheim A, Le Coniat M, Vccchione D, Schaison G (1980) Effect of chlormethin chlorhydrate on the chromosomes in Fanconi's anemia: application to diagnosis and detection hétérozygotes. CR Seances Acad Sci D 290: 457-459
49. Bertazzoni U, Scovassi AI, Stefanini M, Giulotto E, Spadari S, Pedrini AM (1978) DNA polymerases alpha bêta and gamma in inherited diseases affecting DNA repair. Nucleic Acids Res 5: 2189-2196
50. Bethwaite PB, Koreth J, Hcrrington CS, McGec JO (1995) Loss of heterozygosity occurs at the D11S29 locus on chromosome Ilq23 in invasive cervical carcinoma. Br J Cancer 71: 814-818
51. Bigbce WL, Langlois RG, Swift M, Jcnscn RH (1989) Evidence for an elevated frequency of in vivo somatic cell mutations in ataxia telangiectasia. Am J Hum genet 44: 402-408
52. Bigbec WL, Jcnscn RH, Grant SG, Langlois RG, Olsen DA, Auerbach A (1991) Evidence for elevated in vivo somatic mutation at the glycophorin A locus in Fanconi anemia. Am J Hum Genet 49 [Suppl]: 446
53. Bigelow SB, Rary JM, Bender MA (1979) G2 chromosomal radiosensitivity in Fanconi's anemia. Mutât Res 63: 189-199
54. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condic A, Kclscy AM, Harris M, Morris PH, Binchy A, Crowther D, Craft AW, Enden OB, Evans DGR, Thompson E, Mann JR, Martin J, Mitchell ELD, Santibânez-Koref MF (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54: 1298-1304
55. Blocher D, Sigut D, Hannan MA (1991) Fibroblasts from ataxia telangiectasia (AT) and AT hétérozygotes show an enhanced level of residual DNA double-strand breaks after low dose-rate gammairradiation as assayed by pulsed field gel elcctrophoresis. Int J Radiât Biol 60: 791-802
56. Bloom D (1954) Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Am J Dis Child 88: 754-758
57. Blunt T, Finnic NJ, Taccioli GE, Smith GC, Demengeot J, Gottlieb TM, Mizuta R, Varghese AJ, Alt FW, Jeggo PA et al (1995) Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine seid mutation. Cell 80: 813-823
58. Boder E., Sedgvvick RP (1957) Ataxia-telangiectasia. A familial syndrome of progressive cerebcllar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy, and a case history. Univ South Calif Mcd Bull 9: 15-28
59. Boder E, Scdgwick RP (1958) Ataxia-telangiectasia. A familial syndrome of progressive ccrebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 21: 526-554
60. Boder E, Scdgwick RP (1963) Ataxia-telangiectasia. A review of 101 cases In: Walsh G (ed) Little club clinics in developmental medicine. Heinemann, London, pp 110-118
61. Boice JD, Miller RW (1992) Risk of breast cancer in ataxia-telangicctasia (letter). N Engl J Med 326: 1357-1358 Borresen AL, Andersen TI, Tretli S, Heiberg A, Möller P (I990) Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia. Genes Chromosom Cancer 2: 339-340
62. Borsellino N, Belldegrun A, Bonavida B (1995) Endogenous intcrleukin 6 is a resistance factor for cisdiammincdichloroplatinum and etoposide-mediated cytotoxicity of human prostate carcinoma cell lines. Cancer Res 55: 4633-4639
63. Boulikas T (1995) Phosphorylation of transcription factors and control of the cell cycle. Crit Rev Eu. karyotic Gene Expr 5: 1-77
64. Brainard E, Herzing LBK, Bainton J, Meyn MS (1991) A common feature of the chromosome instability syndromes: increased spontaneous intrachromosomal mitotic recombination. Am J Hum Genet 49A: 449
65. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, et al (1994) Mutations in the DNA mismatch repair gene homolog hMLHl is associated with hereditary nonpolyposis colon cancer. Nature 368: 258-261
66. Bubley GJ, Schnipper LE (1987) Effects of Bloom's syndrome fibroblasts on genetic recombination and mutagenesis of herpes simplex virus type 1. Somat Cell Mol Genet 13: 111-117
67. Burger RM, Drlica D, Birdsall B (1994) The DNA cleavage of iron bleomycin. J Biol Chem 269: 25978-25985
68. Burnet NG, Nyman J, Turcsson I, Wurm R, Yarnold JR, Peacock JH (1992) Prediction of normal-tissue tolerance to radiotherapy from in vitro cellular radiation sensitivity. Lancet 339: 1590-1591
69. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio AP, Aucrbach AD (1994) Hématologie abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study. Blood 84: 1650-1655
70. Buul PPV, Rooij DGD, Zandman IM, Grigorova M, Duyn-Goedhart AV (1995) X-ray-induced chromosomal aberrations and cell killing in somatic and germ cells of the seid mouse. Int J Radial Biol 67: 549-555
71. Canman CE, WolfT AC, Chen CY, Fornace AJ Jr, Kastan MB (1994) The p53-depcndent G, cell cycle checkpoint pathway and ataxia-telangiectasia. Cancer Res 54: 5054-5058
72. Carter SL, Ncgrini M, Baffa R, Gillum DR, Rosenbcrg AL, Schwartz GF, Croce CM (1994) Loss of heterozygosity at Ilq22-q23 in breast cancer. Cancer Res 54: 6270-6274
73. Cavencc WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallic B, Murphrce A, Strong LC, White RL (1983) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305: 779-784
74. Cervcnka J, Hirsch BA (1983) Cytogenetic differentiation of Fanconi anemia, idiopathic aplastic anemia, and Fanconi anemia hétérozygotes. Am J Med Genet 15: 211-223
75. Chaganti RSK, Schonberg S, German J (1974) A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Proc Natl Acad Sci USA 71: 4508-1512
76. Chaganti SR, Gaidano G, Louie DC, Dalla-Favcra R, Chaganti RS (1995) Diffuse large cell lymphomas exhibit frequent deletions in 9p21-22 and 9q31-34 regions. Genes Chromosom Cancer 12: 32-36
77. Chan JY, Becker FF, German J, Ray JH (1987) Altered DNA ligase I activity in Bloom's syndrome cells. Nature 325: 357-359
78. Chcn LC, Matsumura K, Deng G, Kurisu W, Ljung BM, Lerman MI, Waldman FM, Smith HS (1994) Deletion of two separate regions on chromosome 3p in breast cancers. Cancer Res 54: 3021-3024
79. Chen M, Cumming R, Krasnoshtein F, Savoia A, Lightfoot J, Santos C, Parker L, Wong J, Joyner A, Buchwald M (1995) Molecular genetics of Fanconi anemia. J Cell Biochem 21A: 272
80. Chen PC, Lavin MF, Kidson C, Moss D (1978) Identification of ataxia telangiectasia hétérozygotes, a cancer prone population. Nature 274: 484-486
81. Chessa L, Lisa A, Fiorani O, Zei G (1994) Ataxia-telangiectasia in Italy: genetic analysis. Int J Radial Biol 66: S31-33
82. Chu J-Y, Ho JE, Monteleone PL, O'Conner DM (1979) Technicium colloid bone marrow imaging in Fanconi's anemia. Pediatrics 64: 952-954
83. Claus EB, Risen N, Thompson WD (1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 48: 232-242
84. Cohen MM, Levy HP (1969) Chromosome instability syndromes. Adv Hum Genet 18: 43-149
85. Cohen MM, Shaham M, Dagan J, Shmueli E, Kohn G (1975) Cytogenetic investigations in families with ataxia-telangiectasia. Cytogenet Cell Genet 15: 338-356
86. Cohen MM, Simpson SJ, Honig GR, Maurer HS, Nicklas JW, Martin AO (1982) The identification of Fanconi anemia genotypes by clastogenic stress. Am J Hum Genet 34: 794-810
87. Cole J, Arlett CF (1994) Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia patients. Int J Radiât Biol 66: S123-131
88. Cole J, Arlett CF, Green MH, Harcourt SA, Priestley A, Henderson L, Cole H, James SE, Richmond F (1988) Comparative human cellular radiosensitivity. II. The survival following gamma-irradiation of unstimulated (Go) T-lymphocytes, T-lymphocyte lines, lymphoblastoid cell lines and fibroblasts from normal donors, from ataxia-telangiectasia patients and from ataxia-telangiectasia hétérozygotes. Int J Radiât Biol 54: 929-943
89. Cornforth MN, Bedford JS (1985) On the nature of a defect in cells from individuals with ataxiatelangiectasia. Science 227: 1589-1591
90. Cortcssis V, Ingles S, Millikan R, Diep A, Gatti RA, Richardson L, Thompson WD, Paganini-Hill A, Sparkes RS, Haile RW (1993) Linkage analysis of DRD2, a marker linked to the ataxia-telangiectasia gene, in 64 families with premenopausal bilateral breast cancer. Cancer Res 53: 5083-5086
91. Costa ND, Thackcr J (1993) Response of radiation-sensitive human cells to defined DNA breaks. Int J Radial Biol 64: 523-529
92. Cowdcll RH, Phizackerly PJR, Pyke DA (1995) Constilulional anemia (Fanconi's syndrome) and leukemia in two brothers. Blood 10: 788-801
93. Cox R, Masson WK, Dcbcnham PG, Webb MBT (1984) The use of rccombinant DNA plasmids for the determination of DNA-repair and recombination in cultured mammalian cells. Br J Cancer 46 [Suppl VI] : 67-72
94. Dallapiccola B, Magnani M, Novell! G, Mandclli F (1984) Increased activity of glutathione S-transferase and fast decay of reduced glutathione in Fanconi's anemia erythrocytes. Acta Haematol 71: 143-144
95. Dallapiccola B, Porfirio B, Mokini V, Alimena G, Isacchi G, Gandin! E (1985) Effects of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes. Hum Genet 69: 62-65
96. Day RS, Giuffrida AS, Dingman CW (1975) Repair by human cells of adenovirus-2 damaged by psoralen plus near ultraviolet light treatment. Mutât Res 33: 311-320
97. Dean SW, Fox M (I983) Investigation of the cell cycle response of normal and Fanconi's anaemia fibroblasts to nitrogen mustard using flow cytometry. J Cell Sci 64: 265-279
98. Debenham PG, Webb MB, Stretch A, Thacker J (1988) Examination of vectors with two dominant, selectable genes for DNA repair and mutation studies in mammalian cells. Mutât Res 199: 145-158
99. Degan P, Bonassi S, De Caterina M, Korkina LG, Pinto L, Scopacasa F, Zatterale A, Calzone R, Pagano G (1995) In vivo accumulation of 8-hydroxy-2'-deoxyguanosine in DNA correlates with release of reactive oxygen species in Fanconi's anaemia families. Carcinogenesis 16: 735-741
100. Dehazya P, Sirover MA (1986) Regulation of hypoxanthine DNA glycosylase in normal human and Bloom's syndrome fibroblasts. Cancer Res 46: 3756-3761
101. Dcng GR, He LW, Lin BY (1994) Loss of hctcrozygosity at different chromosomes in patients with breast cancer. Chung Hua I Hsuch Tsa Chin 74: 31-34
102. Devilee P, van Vliet M, Van Sloun P, Kuipers Dijkshoorn N, Hermans J, Perason PL, Cornelisse CJ (1991) Allelotype of human breast carcinoma: a second major site for loss of heterozygosity is on chromosome 6q. Oncogene 6: 1705-1711
103. Dive C, Evans CA, Whetton AD (1992) Induction of apoptosis - new targets for cancer chemotherapy. Semin Cancer Biol 3: 417-427
104. Doll R, Peto R (1981) The causes of cancer: quantitative estimates of avoidable risks of cancer in the United States today. JNCI 66: 1191-1308
105. Dosik H, Hsu LY, Todaro GJ, Lee SL, Hirschhorn K, Selirio ES, Alter AA (1970) Leukemia in Fanconi's anemia: cytogenetic and tumor virus susceptibility studies. Blood 36: 341-352
106. Dritschilo A, BrennanT, Weichselbaum RR, Mossman KL(1984) Response of human fibroblasts to low dose rate gamma irradiation. Radiât Res 100: 387-395
107. Duckworth-Rysiecki G, Taylor AMR (1985) Effects of ionizing radiation of cells from Fanconi's anemia patients. Cancer Res 45: 416-420
108. Dulic V, Kaufmann WK, Wilson SJ, Tlsty TD, Lees E, Harper JW, Ellcdge SJ, Reed SI (1994) p53-dependent inhibition of cyclin-dependent kinase activities in human fibroblasts during radiation-induced G, arrest. Cell 76: 1013-1023
109. Dutrillaux B, Aurias A, Dutrillaux AM, Buriot D, Prieur M (1982) The cell cycle of lymphocytes in Fanconi anemia. Hum Genet 62: 327-332
110. Eady JJ, Peacock JH, McMillan TJ (1992) Host cell reactivation of gamma-irradiated adenovirus 5 in human cell lines of varying radiosensitivity. Br J Cancer 66: 113-118
111. Easton D, Ford D, Peto J (1993) Inherited susceptibility to breast cancer. Cancer Surv 18: 95-113
112. Easton DF (1994a) Cancer risks in A-T hétérozygotes. Int J Radiât Biol 66: S177-182
113. Easton DF (1994b) The inherited component of cancer. Br Med Bull 50: 527-535
114. cl-Dciry WS, Harper JW, O'Connor PM, Vclculcscu VE, Canman CE, Jackman J, Pietenpol JA, Burrell M, Hill DE, Wang Y (1994) WAF1/CIP1 is induced in p53-mediated G, arrest and apoptosis. Cancer Res 54: 1169-1174
115. el-Naggar AK, Lee MS, Wang G, Luna MA, Goepfert H, Batsakis JG (1993) Polymerase chain reaction-based restriction fragment length polymorphism analysis of the short arm of chromosome 3 in , primary head and neck squamous carcinoma. Cancer 72: 881-886
116. Ellis NA, Groden J, Ye T-Z, Straughen J, Lennon DJ, Ciocci S, Proytchcva M, German J (1995a) The Bloom's syndrome gene product is homologous to recQ helicases. Cell 83: 655-666
117. Ellis NA, Lennon DJ, Proytcheva M, Alhadeff B, Henderson EE, German J (1995b) Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am J Hum Genet 57: 1019-1027
118. Enoch T, Norbury C (1995) Cellular responses to DNA damage: cell-cycle checkpoints, apoptosis and the roles ofp53 and ATM. Trends Biochem Sci 20: 426-430
119. Evans HJ, Adans AC, Clarkson JM, German J (1978) Chromosome aberrations and unscheduled DNA synthesis in X- and UV-irradiated lymphocytes from a boy with Bloom's syndrome and a man with xeroderma pigmentosum. Cytogenet Cell Genet 20: 124-140
120. Evans HJ, Ray JH, German J (1983) Bloom's syndrome: Evidence for an increased mutation frequency in vivo. Science 221: 851-853
121. Evans MK, Bohr VA (1994) Gene-specific DNA repair of UV-induccd cyclobutanc pyrimidine dimers in some cancer-prone and premature-aging human syndromes. Mutât Res 314: 221-231
122. Eyre JA, Gardner-Medwin D, Summerfield GP (1988) Leukoencephalopathy after prophylactic radiation for leukaemia in ataxia telangiectasia. Arch Dis Child 63: 1079-1080
123. Fanconi G (I927) Familiäre infantile perniziösartige Anämie (perniziöses Blutbild und Konstitution). Jahrb Kinderhcilkd 117: 257-280
124. Fanconi G (1967) Familial constitutional panmyelopathy, Fanconi's anemia (F.A.). Semin Hematol 4: 233-240
125. Feigin RD, Vietti TJ, Wyatt RG, Kaufmann DG, Smith CH (1970) Ataxia telangiectasia with granulocytopcnia. J Pcdiatr 77: 431-438
126. Fendrick JL, Hallick LM (1984) Psoralen photoinactivation of herpes simplex virus: monoadduct and cross-link repair by xeroderma pigmentosum and Fanconi's anemia cells. J Invest Dermatol 83: 96s-101s
127. Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins JA, Barber J, Kane M, Kolodncr R (1993) The human mutator gene homology MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75: 1027-1038
128. Ford D, Easton DF (1995) The genetics of breast and ovarian cancer. Br J Cancer 72: 805-812
129. Fornace AJ Jr, Little JB, Weichselbaum RR (1979) DNA repair in a Fanconi's anemia fibroblast cell strain. Biochcm Biophys Acta 561: 99-109
130. Fritz E, Herzing L, Elsea S, Meyn MS (1996) A novel human cDNA that complements the ataxiatclangiectasia phenotype is homologous to the S. cerevisiae Top3 topoisomerase. Proc Natl Acad Sci USA (in press)
131. Frorath B, Schmidt-Preuss U, Siemers U, Zollner M, Rudiger HW (1984) Heterozygous carriers for Bloom syndrome exhibit a spontaneously increased micronucleus formation in cultured fibroblasts. Hum Genet 67: 52-55
132. Fujiwara Y (1982) Defective repair of mitomycin C crosslinks in Fanconi's anemia and loss in confluent normal human and xeroderma pigmentosum cells. Biochim Biophys Acta 699: 217-225
133. Fujiwara Y, Tatsumi M (1977) Cross-link repair in human cells and its possible defect in Fanconi's anemia cells. J Mol Biol 113: 635-649
134. Galloway SM, Evans HJ (1975) Sister chromatid exchange in human chromosomes from normal individuals and patients with ataxia telangiectasia. Cyto Cell Genet 15: 17-29
135. Gangloff S, McDonald JP, Bendixen C, Arthur L, Rothstein R (1994) The yeast type I topoisomerase Top3 interacts with SGS1, a DNA helicase homolog: a potential eukaryotic reverse gyrase. Mol Cell Biol 14: 8391-8398
136. Garriga S, Crosby WH (1959) The incidence of leukemia in families of patients with hypoplasia of the marrow. Blood 14: 1008-1014
137. Centner NE, Morrison B (1989) Determination of the proportion of persons in the population who exhibit abnormal sensitivity to ionising radiation low dose radiation. Taylor and Francis, London, pp 253-262
138. German J (1964) Cytological evidence for crossing-over in vitro in human lymphoid cells. Science 144: 298-301
139. German J (1969) Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet 21: 196-227
140. German J (1974) Bloom's syndrome. II. The prototype of human diseases predisposing to chromosome instability and cancer. In: German J (cd) Chromosomes and cancer. Wiley, New York
141. German J (1983) Patterns of neoplasia associated with the chromosome-breakage syndromes. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 97-134
142. German J (1993) Bloom syndrome: a Mendclian prototype of somatic mutational disease. Medicine (Baltimore) 72: 393-406
143. German J (1995) Bloom's syndrome. Dermatol Clin 13: 7-18
144. German J, Passarge E (1989) Bloom's syndrome. XII. Report from the Registry for 1987. Clin Genet 35: 57-69
145. German J, Schonberg S (1980) Bloom's syndrome? IX. Review of cytological and biochemical aspects. In: Gelboin HV, MacMahon B, Matsushima T, Sugimura T, Takayama S, Takebe H (eds) Genetic and environmental factors in experimental and human cancer. Japan Scientific Societies Press, Tokyo, pp 175-186
146. German J, Takebe H (1989) Bloom's syndrome. XIV. The disorder in Japan. Clin Genet 35: 93-110
147. German J, Archibald R, Bloom D (1965) Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 148: 506-507
148. German J, Bloom D, Passarge E, Fried K, Goodman RM, Katzenellenbogen I, Laron Z, Legum C, Levin S, Wahrman J (1977a) Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. Am J Hum Genet 29: 553-562
149. German J, Schonbcrg S, Louie E, Chaganti RSK (19775) Bloom's syndrome. IV. Sister chromatid exchanges in lymphocytes. Am J Hum Genet 29: 248-255
150. German J, Roe AM, Leppcrt MF, Ellis NA (1994) Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. Proc Nail Acad Sci U S A 91: 6669-6673
151. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD (1993) The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics 91: 1116-1120
152. Giampietro PF, Verlander PC, Maschan A et al (1994) Fanconi anemia: a model for somatic gene mutation during development. Am J Med Genet 52: 36
153. Gibbons B, Scott D, Hungerford JL, Cheung KL, Harrison C, Attard-Montalto S, Evans M, Birch JM, Kingston JE (1995) Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings. Clin Genet 47: 311-317
154. Gille JJ, Wortelboer HM, Jocnjc H (1987) Antioxidant status of Fanconi anemia fibroblasts. Hum Genet 77: 28-31
155. Glanz A, Fraser FC (1982) Spectrum of anomalies in Fanconi anaemia. J Mcd Genet 19: 412-116
156. Gluckman E, Devergic A, Dutreix J (1983) Radiosensitivity in Fanconi anaemia: application to the conditioning regimen for bone marrow transplantation. Br J Haematol 54: 431-440
157. Gluckman E, Auerbach AD, Horowitz MM, Sobocinski KA, Ash RC, Bortin MM, Butturini A, Camilla BM, Champlin RE, Friedrich W et al (1995) Bone marrow transplantation for Fanconi anemia. Blood 86: 2856-2862
158. Gmyrek D, Otto FM, Sylla-Rapoport I (1965) On the familial occurrence of Fanconi anemia and thrombocytopenia with malformations (remarks on the therapy of Fanconi anemia). Monatsschr Kinderhcilkd 113: 542-552
159. Goodrich DW, Lee WH (1990) The molecular genetics of retinoblastoma. Cancer Surv 9: 529-564
160. Gotoff SP, Amirmokri E, Liebner EJ (1967) Neoplasia, untoward response to X-irradiation, and tuberous sclerosis. Am J Dis Child 114: 617-625
161. Gottlieb TM, Jackson SP (1993) The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen. Cell 72: 131-141
162. Gray JE (1992) Increased incidence of cancer in a small subset of the population: a new obstacle to screening mammography? Radiology 185: 285-286
163. Greenwell PW, Kronmal SL, Porter SE, Gassenhuber J, Obermaier B, Petes TD (1995) TELI, a gene involved in controlling telomerc length in S. cerevisiae, is homologous to the human ataxia telangiectasia gene. Cell 82: 823-829
164. Groden J, German J (1992) Bloom's syndrome. XVIII. Hypermutability at a tandem-repeat locus. Hum Genet 90: 360-367
165. Groden J, Nakamura Y, German J (1990) Molecular evidence that homologous recombination occurs in proliferating human somatic cells. Proc Natl Acad Sci USA 87: 4315-4319
166. Grompe M, Low M, Riefsteck C, Olson S, Whitncy MA (1995) Generation and phenotypic characterization of mice disrupted for the Fanconi anemia group C gene. Am J Hum Genet 57: A5I Gudmundsson J, Barkardotlir RB, Eiriksdottir G, Baldursson T, Arason A, Egilsson V, Ingvarsson S (1995) Loss of heterozygosity at chromosome 11 in breast cancer: association of prognostic factors , with genetic alterations. Br J Cancer 72: 696-701
167. Gustafson CE, Young J, Leggett B, Scarle J, Chenevix-Trench G (1994) Loss of heterozygosity on the long arm of chromosome 11 in colorectal tumours. Br J Cancer 70: 395-397
168. Habuchi T, Devlin J, Elder PA, Knowles MA (1995) Detailed deletion mapping of chromosome 9q in bladder cancer: evidence for two tumour suppressor loci. Oncogcnc 11: 1671-1674
169. Hall EJ, Marchese MJ, Astor MB, Morse T (1986) Response of cells of human origin, normal and malignant, to acute and low dose rate irradiation. Int J Radiât Oncol Biol Phys 12: 655-659
170. Hall JD, Schercr K (1981) Repair of psoralen-trcatcd DNA by genetic recombination in human cells infected with herpes simplex virus. Cancer Res 41: 5033-5038
171. Hallahan DE, Beckett MA, Kufe D (1990) The interaction between recombinant human tumor necrosis factor and radiation in 13 human tumor cell lines. Int J Radiât Oncol Biol Phys 19: 69-74
172. Hampton GM, Mannermaa A, Winquist R, Alavaikko M, Blanco G, Taskinen PJ, Kiviniemi H, Newsham I, Cavenec WK, Evans GA (1994a) Loss of heterozygosity in sporadic human breast carcinoma: a common region between Ilq22 and Hq23.3. Cancer Res 54: 4586-4589
173. Hampton GM, Penny LA, Bacrgcn RN, Larson A, Brewer C, Liao S, Busby-Earle RM, Williams AW, Steel CM, Bird CC et al (1994b) Loss of heterozygosity in cervical carcinoma: subchromosomal localization of a putative tumor-suppressor gene to chromosome l Iq22-q24. Proc Natl Acad Sci USA 91: 6953-6957
174. Hand R, German J (1975) A retarded rate of DNA chain growth in Bloom's syndrome. Proc Natl Acad Sci USA 72: 758-762
175. Hang B, Yeung AT, Lambert MW (1993) A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A, cells. Nucleic Acids Res 21: 4187-4192
176. Hannan MA, Greer W, Smith BP, Sigut D, Ali MA, Amer Mil (1991) Skin fibroblast cell lines derived from non-Hodgkin's-lymphoma (NHL) patients show increased sensitivity to chronic gamma irra-diation. Int J Cancer 47: 261-266
177. Hannan MA, Kunhi M, Einspcnner M, Khan BA, al-Sedairy S (1994) Post-irradiation DNA synthesis inhibition and GZ phase delay in radiosensitive body cells from non-Hodgkin's lymphoma patients: an indication of cell cycle defects. Mutât Res 311: 265-276
178. Harada Y, Katagiri T, Ito I, Akiyama F, Sakamoto G, Kasumi F, Nakamura Y, Emi Ni (1994) Genetic studies of 457 breast cancers. Clinicopathologic parameters compared with genetic alterations. Cancer 74: 2281-2286
179. Hari KL, Santcrrc A, Sekelsky JJ, McKim KS, Boyd JB, Hawley RS (1995) The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene. Cell 82: 815-821
180. Hartley KO, Gell D, Smith GC, Zhang H, Divccha N, Connclly MA, Admon A, Lees-Miller SP, Anderson CW, Jackson SP (1995) DNA-dependent protein kinasc catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product. Cell 82: 849-856
181. Hartwell LH (1992) Defects in a cell cycle checkpoint may be responsible for the genomic instability of cancer cells. Cell 71: 543-546
182. Hartewcll LH, Kastan MB (1994) Cell cycle control and cancer. Science 266: 1821-1828
183. Harvey M, McArthur MJ, Montgomery CA Jr, Butel JS, Bradley A, Donehower LA (1993) Spontaneous and carcinogen-induced tumorigenesis in p53-dcficient mice. Nature Genet 5: 225-229
184. Harvey M, Vogel H, Morris D, Bradley A, Bernstein A, Donehower LA (1995) A mutant p53 transgene accelerates tumour development in heterozygous but not nullizygous p53-deficient mice. Nature Genet 9: 305-311
185. Hayashi K, Schmid W (1975) Tandem duplication of q!4 and dicentric formation by end-to-end chromosome fusion in ataxia telangiectasia. Humangenetik 30: 135-141
186. Heartlein MW, Tsuji H, Latt SA (1987) 5-Bromodeoxyuridine-dependent increase in sister chromatid exchange formation in Bloom's syndrome is associated with reduction in topoisomerase II activity. Exp Cell Res 169: 245-254
187. Hecht F, Hecht BK (1990) Cancer in ataxia-telangiectasia patients. Cancer Genet Cytogenet 46: 9-19
188. Hecht F, Koler RD, Rigas DA, Dahnke GS, Case MP, Tisdale V, Miller RW (1966) Leukaemia and lymphocytes in ataxia-telangiectasia. Lancet 2: 1193
189. Hecht F, McCaw BK, Koler RD (1973) Ataxia telangiectasia: clonal growth of translocation lymphocytes. N Engl J Mcd 289: 286-291
190. Heddle JA, Krepinsky AB, Marshall RR (1983) Cellular sensitivity to mutagens and carcinogens in the chromosome-breakage and other cancer-prone syndromes. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 203-234
191. , Herbst RA, Larson A, Wciss J, Cavanee WK, Hampton GM, Arden KC (1995) A defined region of loss of heterozygosity at Ilq23 in cutaneous malignant melanoma. Cancer Res 55: 2494-2496
192. Higurashi M, Concn PE (1971) In vitro chromosomal radiosensitivity in Fanconi's anemia. Blood 38: 336-342
193. Hilgers G, Abrahams PJ, Schouten R, Cornelis JJ, Lehmann AR, Van der Eb AJ, Rommclaere J (1987) Cells of patients with ataxia telangiectasia show a normal capacity of radio-induced reactivation of damaged HSV-1 virus. CR Soc Biol (Paris) 181: 432-438
194. Hilgers G, Abrahams PJ, Chen YQ, Schouten R, Cornelis JJ, Löwe JE, van der Eb AJ, Rommelaere J (1989) Impaired recovery and mutagenic SOS-like responses in ataxia telangiectasia cells. Mutagencsis 4: 271-276
195. Hill RD (1976) Familial cancer on a Scottish island. Br Med J 2: 401-402
196. Hoehn H, Kubbies M, Schindler D, Poot M, Rabinovitch PS (1989) BrdU-Hoechst flow cytomctry links the cell kinetic defect of Fanconi anemia to oxygen hypersensitivity. In: Schroeder-Kurth TM, Auerbach AD, Obc G (eds) Fanconi anemia. Springer, Berlin Heidelberg New York, pp 161-173
197. Hojo ET, van Diemen PC, Darroudi F, Natarajan AT (1995) Spontaneous chromosomal aberrations in Fanconi anaemia, ataxia telangiectasia fibroblast and Bloom's syndrome lymphoblastoid cell lines as detected by conventional cytogenetic analysis and fluorescence in situ hybridisation (FISH) technique. Mutât Res 334: 59-69
198. Huret JL, Tanzer J, Guilhot F, Frocrain-Herchkovitch C, Savage JR (1988) Karyotype evolution in the bone marrow of a patient with Fanconi anemia: breakpoints in clonal anomalies of this disease. Cytogenet Cell Genet 48: 224-227
199. lizuka M, Sugiyama Y, Shiraishi M, Jones C, Sekiya T (1995) Allelic losses in human chromosome 11 in lung cancers. Genes Chromosomes Cancer 13: 40-46
200. Imaly JA, Linn S (1988) DNA damage and oxygen radical toxicity. Science 240: 1302-1309
201. Ishida R, Buchwald M (l 982) Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking and alkylating agents. Cancer Res 42: 4000-4006
202. Ishizaki K, Yagi T, Inoue M, Nikaido O, Takebe H (1981) DNA repair in Bloom's syndrome fibroblasts after UV irradiation or treatment with mitomycin C. Mutât Res 80: 213-219
203. Ito I, Yoshimoto M, Iwase T, Watanabe S, Katagiri T, Ilarada Y, Kasumi F, Yasuda S, Mitomi T, Emi M et al (1995) Association of genetic alterations on chromosome 17 and loss of hormone receptors in breast cancer. Br J Cancer 71: 438-441
204. Jaspers NG, Gatli RA, Baan C, Linssen PC, Bootsma D (1988) Genetic complementation of analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet 49: 66-73
205. Jccves WP, Rainbow AJ (1986) An aberration in gamma-ray-enhanccd reactivation of irradiated adcnovirus in ataxia telangiectasia fibroblasts. Carcinogenesis 7: 381-387
206. Jimenez G, Yucel J, Row ley R, Subramani S (1992) The rad3+ gene of Schizosaccharomyces pombe is involved in multiple checkpoint functions and in DNA repair. Proc NatI Acad Sci USA 89:4952-4956
207. Jocnje H, Gille JJ (1989) Oxygen metabolism and chromosomal breakage in Fanconi anemia In: Schroeder-Kurth TM, Auerbach AD, Obe G (eds) Fanconi anemia Springer, Berlin Heidelberg New York, pp 174-182
208. Joenje H, Frants RR, Arwert F, de Bruin GJ, Kostense PJ, van de Kamp JJ, de Koning J, Eriksson AW (1979) Erythrocyte Superoxide dismutasc deficiency in Fanconi's anaemia established by two independent methods of assay. Scand J Clin Lab Invest 39: 759-764
209. Joenje H, Arwert F, Eriksson AW, de Koning H, Oostra AB (1981) Oxygen-dependence of chromosomal aberrations in Fanconi's anaemia. Nature 290: 142-143
210. Jocnje H, Lo ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA, Schrocder-Kurth T, Wegner RD, Gille JJ, Buchwald M, Arwert F (1995) Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86: 2156-2160
211. Johansson E, Niemi KM, Sûmes M, Pyrhonen S (1982) Fanconi's anemia. Tumor-like warts, hyperpigmentation associated with deranged keratinocytes, and depressed cell-mediated immunity. Arch Dermatol 118: 249-252
212. Jones LA, Scott D, Cowan R, Roberts SA (1995) Abnormal radiosensitivity of lymphocytes from breast cancer patients with excessive normal tissue damage after radiotherapy: chromosome aberrations after low dose-rate irradiation. Int J Radiât Biol 67: 519-528
213. Kaiser TN, Lojewski A, Dougherty C, Juergens L, Sahar E, Latt SA (1982) Flow cytometric characterization of the response of Fanconi's anemia cells to mitomycin C treatment. Cytometry 2: 291-297
214. Kapp LN, Painter RB (1981) DNA fork displacement rates in human cells. Biochim Biophys Acta 656: 36-39
215. Karlsen F, Rabbitts PH, Sundrcsan V, Hagmar B (1994) PCR-RFLP studies on chromosome 3p in formaldehyde-fixed, paraffin-embedded cervical cancer tissues. Int J Cancer 58: 787-792
216. Kastan MB (1995) Ataxia-telangicctasia - broad implications for a rare disorder. N Engl J Med 333: 662-663
217. Kastan MB, Zhan Q, el-Deiry WS, Carrier F, Jacks T, Walsh WV, Plunkctt BS, Vogclstein B, Fornace AJ Jr (1992) A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-tclangicctasia. Cell 71: 587-597
218. Kaye J, Smith CA, Hanawalt PC (1980) DNA repair in human cells containing photoadducts of 8-methoxypsoralen or angelicin. Cancer Res 40: 696-702
219. Kecgan KS, Holtzman DA, Plug AW, Brainerd EE, Christenson ER, Bentley EM, Mcyn MS, Moss SB, Carr AM, Ashley T, Hoetistra M (1996) The ATR and ATM protein kinases associate with different sites along meiotically pairing chromosomes. Genes Develop (in press)
220. Kcldysh PL, Dragani TA, Flcischman EW, Konstantinova LN, Pcrevoschikov AG, Pierotti MA, Porta GD, Kopnin PB (1993) llq deletions in human colorectal carcinomas: cytogcnctics and restriction fragment length polymorphism analysis. Genes chromosome Cancer 6: 45-50
221. Kerlikowske K, Grady D, Barclay J, Sickles EA, Eaton E, Ernster V (1993) Positive predictive value of screening mammography by age and family history of breast cancer. JAMA 270: 2444-2450
222. Khanna KK, Lavin MF (1993) Ionizing radiation and UV induction of p53 protein by different pathways in ataxia-telangiectasia cells. Oncogcne 8: 3307-3312
223. Kidson C, Chen P, Imray P (1982) Ataxia-telangiectasia hétérozygotes: dominant expression of ionizing radiation sensitive mutants. In: Bridges BA, Harndcn DG (eds) Ataxia-telangiectasia: a cellular and molecular link between cancer neuropathology, and immune deficiency. Wiley, Chichester, pp 363-372
224. Kim S, Vollberg TM, Ro JY, Kirn M, Sirover MA (1986) O6-methyIguanine mcthyltransferase increases before S phase in normal human cells but does not increase in hypermutable Bloom's syndrome cells. Mutât Res 173: 141-145
225. Kinsella TJ, Mitchell JB, McPhcrson S, Russo A, Tietze F (1982) In vitro X-ray sensitivity in ataxia telangicctasia homozygote and hétérozygote skin fibroblasts under oxic and hypoxic conditions. Cancer Res 42: 3950-3056
226. Kobayashi Y, Tycko B, Soreng AL, Sklar J (1991) Transrearrangements between antigen receptor genes in normal human lymphoid tissues and in ataxia telangicctasia. J Immunol 147: 3201-3209
227. Kohchi C, Noguchi K, Tanabc Y, Mizuno D-I, Soma G-I (1994) Constitutive expression of TNF-a and TNF-β genes in mouse embryo: roles of cytokines as regulator and effector of development. Int J Biochem26: 111-119
228. Kohn PH, Kraemer KH, Buchanan JK (1982a) Influence of ataxia telangicctasia gene dosage on bleomycin-induced chromosome breakage and inhibition of replication in human lymphoblastoid cell lines Exp Cell Res 137: 387-395
229. Kohn PH, Whang-Peng J, Levis WR (1982b) Chromosomal instability in ataxia telangicctasia. Cancer Genet Cytogcnet 6: 289-302
230. Kohno T, Takayama H, Hamaguchi M, Takano H, Yamaguchi N, Tsuda H, Hirohashi S, Vissing H, Shimizu M, Oshimura M et al (1993) Deletion mapping of chromosome 3p in human uterine cervical cancer. Oncogene 8: 1825-1832
231. Kojis TL, Schreck RR, Gatti RA, Sparkes RS (1989) Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia. Hum Genet 83: 347-352
232. Kojis TL, Gatti RA, Sparkes RS (1991) The cytogenetics of ataxia telangicctasia. Cancer Genet Cytogenet 56: 143-156
233. Komatsu K, Okumura Y, Kodama S, Yoshida M, Miller RC (1989) Lack of correlation between redioscnsitivity and inhibition of DNA synthesis in hybrids A-T x HeLa. Int J Radiât Biol 56: 863-867
234. Konstantinova LN, Fleischman EW, Knisch VI, Pcrevoschikov AG, Kipnon BP (1991) Karyotype peculiarities of human colorectal adenocarcinomas. Hum Genet 86: 491-496
235. Koreth J, Bcthwaite PB, McGce JO (1995) mutation at chromosome 1 Iq23 in human non-familial breast cancer: a microdissection microsatellite analysis. J Pathol 176: 11-18
236. Korkina LG, Samochatova EV, Maschan AA, Suslova TB, Cheremisina ZP, Afanas'ev IB (1992) Release of active oxygen radicals by leukocytes of Fanconi anemia patients. J. Lcukoc Biol 52: 357-362
237. Krepinksy AB, Hcddlc JA, German J (1979) Sensitivity of Bloom's syndrome lymphocytes to ethyl methanesulfonate. Hum Genet 50: 151-156
238. Krepinsky AB, Rainbow AJ, Heddle JA (1980) Studies on the ultraviolet light sensitivity of Bloom's syndrome fibroblasts. Mutât Res 69: 357-368
239. Krepinsky AB, Heddle JA, German J (1989) Sensitivity of Bloom's syndrome lymphocytes to ethyl methanesulfonate. Hum Genet 50: 151-156
240. Krontiris TG, Devlin B, Karp DD, Robert NJ, Risch N (1993) An association between the risk of cancer and mutations in the HRAS1 minisatellitc locus. N Engl J Med 329: 517-523
241. Kubbies M, Schindler D, Hoehm H, Schinzel A, Rabinovitch PS (1985) Endogenous blockage and delay of the chromosome cycle despite normal recruitment and growth phase explain poor proliferation and frequent endomitosis in Fanconi's anemia cells. Am J Hum Genet 37: 1022-1030
242. Kühn EM (1980) Effects of X-irradiation in GI and Ü2 on Bloom's syndrome and normal chromosomes. Hum Genet 54: 335-341
243. Kühn EM, Therman E (1979) No increased chromosome breakage in three Bloom's syndrome hétérozygotes. J Med Genet 16: 219-222
244. Kühn EM, Therman E (1986) Cytogenetics of Bloom's syndrome. Cancer Genet Cytogenet 22: 1-18
245. Kuller LH, Modan B (1992) Risk of breast cancer in ataxia-telangiectasia. N Engl J Med 326: 1357
246. Kurchgessner CU, Patil CK, Evans JW, Cuomo CA, Fried LM, Carter T, Oettinger MA, Brown JM (1995) DNA-dependent kinasc (p350) as a candidate gene for the murine SCID defect. Science 267: 1178-1183
247. Kurihara T, Inouc M, Tatsumi K (1987a) Hypersensitivity of Bloom's syndrome fibroblasts to N-cthylN-nitrosourea. Mutât Res 184: 147-151
248. Kurihara T, Tatsumi K, Takahashi H, Inoue M (1987b) Sister-Chromatid exchanges induced by ultraviolet light in Bloom's syndrome fibroblasts. Mutât Res 183: 197-202
249. Kusunoki Y, Hayashi T, Hirai Y, Kushiro J, Tatsumi K, Kurihara T, Zghal M, Kamoun MR, Takebe H, Jeffreys A, et al. (1994) Increased rate of spontaneous mitotic recombination in T lymphocytes from a Bloom's syndrome patient using a flow-cytometric assay at H LA-A locus. Jpn J Cancer Res 85:610-618
250. Kyoizumi S, Nakamura N, Takebe H, Tatsumi K, German J, Akiyama M (1989) frequency of variant erythrocytes at the glycophorin-A locus in two Bloom's syndrome patients. Mutât Res 214: 215-222
251. Lambert MW, Tsongalis GJ, Lambert WC, Hang B, Parrish DD (1992) Defective DNA endonuclease activities in Fanconi's anemia cells, complementation groups A and B. Mutât Res 273: 57-71
252. Land CE (1992) Risk of breast cancer in ataxia-telangiectasia. N Engl J Med 326: 1359-1361
253. Landau JW, Sasaki MS, Newcomer VD, Norman A (1966) Bloom's syndrome: the syndrome of telangicctatic erythema and growth retardation. Arch Dermatol 94: 687-694
254. Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236: 1567-1570
255. Lane DP (1992) Cancer: p53, guardian of the genome. Nature 358: 15-16
256. Langlois RG, Bigbce WL, Jensen RH, German J (1989) Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci USA 86: 670-674
257. Laquerbc A, Moustacchi E, Fuscoe JC, Papadopoulo D (1995) The molecular mechanism underlying formation of deletions in Fanconi anemia cells may involve a site-specific recombination. Proc Natl Acad Sci USA 92: 831-835
258. Larrick JW, Wright SC (1990) Cytotoxic mechanism of tumor necrosis factor-α. FASEB J 4: 3215-3223
259. Latt SA, Stetten G, Juergens LA, Buchanan GR, Gerald PS (1975) Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi's anemia. Proc Natl Acad Sci USA 72: 4066-4070
260. Lavin MF, Le Poidevin P, Bates P (1992) Enhanced levels of radiation-induced G2 phase delay in ataxia telangicctasia hétérozygotes. Cancer Genet Cytogenet 60: 183-187
261. Lavin MF, Bennett I, Ramsay J, Gardincr RA, Seymour GJ, Farrell A, Walsh M (1994) Identification ofa potentially radiosensitive subgroup among patients with breast cancer. J Natl Cancer Inst 86:1627-1634
262. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R et al (1993) Mutations of a mutS homolog in hereditary nonpolyposis colon cancer. Cell 75: 1214-1225
263. Lees-Miller SP, Godbout R, Chan DW, Weinfeld M, Day III RS, Baron G, Allalunis-Tuner J (1995) Absence of p350 subunit of DNA-activated protein kinase from a radiosensitive human cell line. Science 267: 1183-1185
264. Lehman AR, Stevens S (1977) The production and repair of double strand breaks in cells from normal humans and from patients with ataxia telangiectasia. Biochim Biophys Acta 474: 49-60
265. Levanat S, Gorlin RJ, Fallet S, Johnson DR, Fantasia JE, Bale AE (1996) A two-hit model for devel-opmental defects in Gorlin syndrome. Nature Genet 12: 85-87
266. Li FP, Hecht F, Kaiser-McCaw B, Baranko PV, Potter NU (1981) Ataxia-pancytopenia: syndrome of ccrebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. Can Genet cytogenet 4: 189-196
267. Lipkowitz S, Stern MH, Kirsch IR (1990) Hybrid T cell receptor genes formed by interlocus re-combination in normal and ataxia-telangicctasis lymphocytes. J Exp Med 172: 409-418
268. Lipkowitz S, Carry VF, Kirsch IR (1992) Interlocus V-J recombination measures genomic instability in agriculture workers at risk for lymphoid malignancies. Proc Natl Acad Sci USA 89: 5301-5305
269. Little JB, Nagasawa H (1985) Effect of confluent holding on potentially lethal damage repair, cell cycle progression, and chromosomal aberrations in human normal and ataxia-telangiectasia fibroblasts. Radiât Res 101: 81-93
270. Little JB, Novc J, Strong LC, Nichols WW (1988) Survival of human diploid skin fibroblasts from normal individuals. Int J Radiât Biol 54: 899-910
271. Loeb LA (1991) Mutator phenotypc may be required for multistage carcinogenesis. Cancer Res 51: 3075-3079
272. Loeffler JS, Harris JR, Dahlberg WK, Little JB (1990) In vitro radiosensitivity of human diploid fibroblasts derived from women with unusually sensitive clinical responses to definitive radiation therapy for breast cancer. Radiât Res 121: 227-231
273. Lonn U, Lonn S, Nylen U, Winblad G, German J (1990) An abnormal profile of DNA replication intermediates in Bloom's syndrome. Cancer Res 50: 3141-3145
274. Louis-Bar D (1941) Sur un syndrome progressif comprenant des télangicctasics capillaires cutanées et conjonctivales symétriques, àdisposition naevode et de troubles cérébelleux. Confin Neurol (Basel) 4: 32-42
275. Lowe SW, Ruley HE, Jacks T, Houseman DE (1993) p53-dcpendent apoptosis modulates the cytotoxicity of anticancer agents. Cell 74: 957-967
276. Lu X, Lane DP (1993) Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? Cell 75: 765-778
277. Lu YY, Jhamvar SC, Cheng JQ, Testa JR (1994) Deletion mapping of the short arm of chromosome 3 in human malignant mesothelioma. Genes Chromosomes Cancer 9: 76-80
278. Lynch HT, Lynch JF (1994) 25 years ofHNPCC. Anticancer Res 14: 1617-1624
279. Macicjewski JP, Selleri C, Sato T, Anderson S, NS Y (1995) Increased expression of Fas antigen on bone marrow CD34+ cells of patients with aplastic anaemia. Br J Haematol 91: 245-252
280. Malkin D (1993) p53 and the Li-Fraumeni syndrome. Cancer Genet Cytogenet 66: 83-92
281. Marshall E (1996) Klausncr's unconventional field station in Seattle. Science 271: 1224-1225
282. Marx MP, Smith S (1989) Significance of cellular sensitivity in a group of parents of Fanconi anemia patients. In: Schrocdcr-Kurth TM, Auerbach AD, Obe G (eds) Fanconi anemia. Springer, Berlin Heidelberg New York, pp 137-144
283. Marx MP, Smith S, Hcyns AD, van Tender IZ (1983) Fanconi's anemia: a cytogenetic study on lymphocyte and bone marrow cultures utilizing l,2:3,4-diepoxybutane. Cancer Genet Cytogenet 9: 51-59
284. Matthews N, Ncalc M, Jackson S (1987) Tumor cell killing by TNF inhibited by anaerobic conditions, free radical scavengers and inhibitors of arachidonate metabolism. Immunology 62: 153-155
285. Mavclli I, Ciriolo MR, Rotilio G, De Sole P, Castorino M, Stabile A (1982) Superoxide dismutase, glutathione pcroxidase and catalase in pxidativc hemolysis. A study of Fanconi's anemia erythrocytes. Biochem Biophys Res Commun 106: 286-290
286. McDaniel LD, Schultz RA (1992) Elevated sister chromatid exchange phenotype of Bloom syndrome cells in complemented by human chromosome 15. Proc Nail Acad Sci USA 89: 7968-7972
287. Meyn MS (1993) High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia. Science 260: 1327-1330
288. Meyn MS (1995) Ataxia-telangiectasia and cellular responses to DNA damage. Cancer Res 55: 5991-6001
289. Meyn MS, Bainton J, Herzing LBK. (1993) Increased rates of spontaneous intrachromosomal mitotic recombination in Fanconi anemia fibroblast lines. Exp Hematol 21: 717
290. Meyn MS, Strasfeld L, Alien C (1994) Testing the role of p53 in the expression of genetic instability and apoptosis in ataxia-telangiectasia. Int J Radiât Biol 66: S141-149
291. Meyn MS, Strasfeld L, Allen C (submitted) p53-mediated apoptosis causes radiosensitivity in ataxia-telangiectasia
292. Miller AB, Howe GR, Sherman GJ, Lindsay JP, Yaffe MJ, Dinner PJ, Risch HA, Preston DL (1989) Mortality from breast cancer after irradiation during fluoroscopic examinations in patients being treated for tuberculosis. N Eng J Med 321: 1285-1289
293. Mizutani Y, Bonavida B, Koishihara Y, Akamatsu K, Ohsugi Y, Yoshida O (1995) Sensitization of human renal cell carcinoma cells to cis-diammincdichloroplatinum(II) by anti-intcrleukin 6 monoclonal antibody or anti-interleukin 6 receptor monoclonal antibody. Cancer Res 55: 590-596
294. Monnat RJ Jr (1992) Werner syndrome: molecular genetics and mechanistic hypotheses. Exp Gerontol 27: 447-453
295. Moreira AL, Sampaio EP, Zmuidzinas A, Frindt P, Smith K, Kaplan G (1993) Thalidomide exerts its inhibitory action on tumor necrosis factor a by enhancing mRNA degradation. J Exp Med 199: 1675-1680
296. Morgan JL, Holcomb TM, Morrissey RW (1968) Radiation reaction in ataxia telangiectasia. Am J Dis Child 116: 557-558
297. Mori S, Kondo N, Motoyoshi F, Yamaguchi S, Kaneko H, Orii T (1990) Diabetes mellitus in a young man with Bloom's syndrome. Clin Genet 38: 387-390
298. Mori T, Yanagisawa A, Kalo Y, Miura K, Nishihira T, Mori S, Nakamura Y (1994) Accumulation of genetic alterations during esophageal carcinogenesis. Hum Mol Genet 3: 1969-1971
299. Morrell D, Cromartie E, Swift M (1986) Mortality and cancer incidence in 263 patients with ataxiatelangiectasia. J Nail Cancer Inst 77: 89-92
300. Morris DJ, Reis A (1994) A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigementosum group A loci on chromosome 9q. Genomics 23:23-29
301. Muleris M, Salmon RJ, Dutrillaux B (1990) Cytogenetics of colorectal adcnocarcinomas. Cytogcnct Cell Genet 46: 143-156
302. Mullokandov MR, Kholodilov NG, Atkin NB, Burk RD, Johnson AB, Klingcr HP (1996) gcnomic alterations in cervical carcinoma: losses of chromosome heterozygosity and human papilloma virus tumor status. Cancer Res 56: 197-205
303. Muriel WJ, Lamb JR, Lehmann AR (1991) UV mutation spectra in cell lines from patients with Cockayne's syndrome and ataxia telangiectasia, using the shuttle vector pZ189. Mutât Res 254: 119-123
304. Murray AW (1992) Creative blocks: cell-cycle checkpoints and feedback controls. Nature 359: 599-604
305. Nagafuji K, Shibuya T, Harada M, Mizuno S, Takenaka K, Miyamoto T, Okamura T, Gondo H, Niho Y (1995) Functional expression of Fas antigen (CD95) on hcmatopoietic progenitor cells. Blood 86: 883-889
306. Nagasawa H, Little JB (1983) Suppression of cytotoxic effect of mitomycin-C by Superoxide dismutase in Fanconi's anemia and dyskeratosis congcnita fibroblasts. Carcinogenesis 4: 795-799
307. Nagasawa H, Latt SA, Lalande ME, Little JB (1985) Effects of X-irradiation on cell-cycle progression, induction of chromosomal aberrations and cell killing in ataxia telangiectasia (AT) fibroblasts. Mutât Res 148: 71-82
308. Nagasawa H, Kraemer KH, Shiloh Y, Little JB (1987) Detection of ataxia telangiectasia heterozygous cell lines by postirradiation cumulative labelling index: measurements with coded samples. Cancer Res 47: 398-402
309. Natarajan AT, Meijers M, van Zccland AA, Simons JW (1982) Attempts to detect ataxia telangiectasia (AT) hétérozygotes by cytogenetical techniques. Cytogcnct Cell Genet 33: 145-151
310. National Research Council (1990) Health effects of exposure to low levels of ionizing radiation. In: "BEIR V". National Academy Press, Washington DC
311. Ncgrini M, Rasio D, Hampton GM, Sabbiloni S, Rattan S, Carter SL, Roscnberg AL, Schwartz GF, Shiloh Y, Cavenee WK, Croce CM (1995) Definition and refinement of chromosome II regions of loss of heterozygosity in breast cancer: identification of a new region at Ilq23.3. Cancer Res 55: 3003-3007
312. Nelson WG, Kastan MB (1994) DNA strand breaks: the DNA template alterations that trigger p53-depcndcnt DNA damage response pathways. Mol Cell Biol 14: 1815-1823
313. Nicolaides NC, Papadopoulos N, Lie B, Wei Y-F, Carter KC, Ruben SM et al (1994) Mutations of two homologous in hereditary non-polyposis colon cancer. Nature 371: 75-80
314. Nicotera TM, Notaro J, Notaro S, Schumer J, Sandbcrg AA (1989) Elevated Superoxide dismutase in Bloom's syndrome: a genetic condition of oxidativc stress. Cancer Res 49: 5239-5243
315. Nordenson I (1977) Effect of Superoxide dismutase and catalase on spontaneously occurring chromosome breaks in patients with Fanconi's anemia. Hereditas 86: 147-150
316. Norman A, Withers HR (1993) Mammography screening for A-T hétérozygotes. In: Gatti RA, painter RB (eds) Ataxia-telangicctasia. Springer, Berlin Heidelberg New York, pp 137-140
317. Norman A, Kagan AR, Chan SL (1988) The importance of genetics for the optimization of radiation therapy. Am J Clin Oncol 11: 84-88
318. Nowcll PC (1976) The clonal evolution of tumor cell populations. Science 194: 23-28
319. Ockey CH, Saffhill R (1986) Delayed DNA maturation, a possible cause of the elevated sister-chromatid exchange in Bloom's syndrome. Carcinogenesis 7: 53-57
320. Ogasawara S, Maesawa C, Tamura G, Satodate R (I995) Frequent microsatellite alterations on chromosome 3p in esophageal squamous cell carcinoma. Cancer Res 55: 891-894
321. Okahata S, Kobayashi Y, Usui T (1980) Erythrocyte Superoxide dismutase activity in Fanconi's anaemia. Clin Sci 58: 173-175
322. Oto S, Miyamoto S, Kudoh F, Horic H, Kinugawa N, Okimoto Y (1992) Treatment for B-ccIl-typc lymphoma in a girl associated with Bloom's syndrome. Clin Genet 41: 46-50
323. Oxford JM, Harnden DG, Parrington JM, Dclhanty JD (1975) Specific chromosome aberrations in ataxia telangiectasia. J Med Genet 12: 251-262
324. Painter RB, Young BR (1980) Radiosensitivity in ataxia-telangicctasia: a new explanation. Proc Natl Acad Sci USA 77: 7215-7217
325. Pandita TK, Hittclman WN (1992a) The contribution of DNA and chromosome repair deficiencies to the radiosensitivity of ataxia-telangiectasia. Radial Res 131: 214-223
326. Pandita TK, Hittelman WN (1992b) Initial chromosome damage but not DNA damage is greater in ataxia telangicctasia cells. Radiât Res 130: 94-103
327. Pandita TK, Hittelman WN (1994) Increased levels of chromosome damage and heterogeneous chromosome repair in ataxia telangiectasia hétérozygote cells. Mutât Res 310: 1-13
328. Pandita TK, Hittelman WN (1995) Evidence of a chromatin basis for increased mulagen sensitivity associated with multiple primary malignancies of the head and neck. Int J Cancer 61: 738-743
329. Pandita TK, Pathak S, Gcard CR (1995) Chromosome end associations, telomeres and telomerase activity in ataxia telangiectasia cells. Cytogcnet Cell Genet 71: 85-93
330. Papadopoulo D, Guillouf C, Mohrenweiser H, Moustacchi E (1990a) Hypomutability in Fanconi anaemia cells is associated with increased deletion frequency at the HPRT locus. Proc Natl Acad Sci USA 87: 8383-8387
331. Papadopoulo D, Porfirio B, Moustacchi E (1990b) Mutagenic response of Fanconi's anemia cells from a defined complementation group after treatment with photoactivated bifunctional psoralens. Cancer Res 50: 3289-3294
332. Papadopoulos N, Nicolaides N, Wei Y-F, Ruben SM, Carter KC, Rosen ÇA et al (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629
333. Parshad R, Sanford KK, Joncs GM (1983) Chromatid damage after G2 phase X-irradiation of cells from cancer-prone individuals implicates deficiency in DNA repair. Proc Natl Acad Sci USA 88: 7615-7619
334. Parshad R, Sanford KK, Jones GM, Tarone RE (1985) G2 chromosomal radioscnsitivity of ataxiatelangiectasia hétérozygotes. Cancer Genet Cytogcnet 14: 163-168
335. Partridge M, Kiguwa S, Langdon JD (1994) Frequent deletion of chromosome 3p in oral squamous cell carcinoma. Eur J Cancer B Oral Oncol 30B: 248-251
336. Passarge E (1991) Bloom's syndrome: the German experience. Ann Genet 34: 179-197
337. Patchen ML, Mac Vittie TJ, Williams JL, Schwartz GN, Souza LM (1991) Administration of interleukin-6 stimulates multilineage hematopoicsis and accelerates recovery from radiation-induced hematopoietic depression. Blood 77: 472-480
338. Patcrson MC, Anderson AK, Smith BP, Smith PJ (1979) Enhanced radiosensitivity of cultured fibroblasts from ataxia telangiectasia hétérozygotes manifested by defective colony-forming ability and reduced DNA repair replication after hypoxic Y-irradiation. Cancer Res 39: 3725-3734
339. Paterson MC, Bech-Hansen NT, Smith PJ, Mulvihill JJ (1984) Radiogenic neoplasia, cellular radiosensitivity and faulty DNA repair. In: Boice J, Frauni JF (eds) Radiation carcinogenesis: epidemiology and biological significance. Raven, New York, pp 319-336
340. Paterson MC, MacFarlane SJ, Centner NE, Smith BP (1985) Cellular hyperscnsitivity to chronic yradiation in cultured fibroblasts from ataxia-telangiectasia hétérozygotes. In: Gatti RA, Swift M (eds) Ataxia-telangicctasia: genetics, neuropathology, and immunology of a degenerative disease of childhood. Liss, New York, pp 73-87
341. Pavlakis SG, Frissora CL, Giampietro PF, Davis JG, Gould RJ, Adler-Brecher B, Auerbach AD (1992) Fanconi anemia: a model for genetic causes of abnormal brain development. Dev Mcd Child Neurol 34: 1081-1084
342. Pejovic T (1995) Genetic changes in ovarian cancer. Ann Med 27: 73-78
343. Perdahl EB, Naprstek BL, Wallace WC, Lipton JM (1994) Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. Blood 83: 645-650
344. Perkins J, Timson J, Emery AE (1969) Clinical and chromosome studies in Fanconi's aplastic anaemia. J Med Genet 6: 28-33
345. Peterson RDA, Good RA (1968) Ataxia-telangiectasia. In: Bergsma D, Good RA (eds) Birth defects immunologie defiency disease in man. National Foundation, March of Dimes, New York, pp 370-377
346. Peterson RDA, Funkhouser JD, Tuck-Muller CM, Gatti RA (1992) Cancer susceptibility in ataxiatelangiectasia. Leukemia 6 [Suppl 1]: 8-13
347. Petridou M, Barrett AJ (1990) Physical and laboratory characteristics of hétérozygote carriers of the Fanconi aplasia gene. Acta Paediatr Scand 79: 1069-1074
348. Pfeiffer RA (1970) Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's syndrome). Humangenetik 8: 302-306
349. Phipps J, Nasim A, Miller DR (1985) Recovery, repair and mutagencsis in Schizosaccharomyces pombe. Adv Genet 23: 1-72
350. Pincheira J, Bravo M, Lopcz-Saez JF (1988) Fanconi's anemia lymphocytes: effect of caffeine, adenosine and niacinamide during G2 prophase. Mutât Res 199: 159-165
351. Pippard EC, Hall AJ, Barker DJ, Bridges BA (1988) Cancer in homozygotes and hétérozygotes of ataxiatelangiectasia and xeroderma pigmentosum in Britain. Cancer Res 48: 2929-2932
352. Poll EH, Abrahams PJ, Arwert F, Eriksson AW (1984) Host-cell reactivation of cis-diamminedichloroplatinum(II)-treated SV40 DNA in normal human, Fanconi anaemia and xeroderma pigmentosum fibroblasts. Mutât Res 132: 181-187
353. Poll EHA, Arwert F, Jocnjc H, Wanamarta AH (1985) DilTcrcntial sensitivity of Fanconi anaemia lymphocyotes to the clastogenic action of cis-diamminedichloroplatinum (II) and trans-diammincdichloroplatinum (II). Hum Genet 71: 206-210
354. Foot M, Verkcrk A, Koster JF, Jongkind JF (1986) De novo synthesis of glutathione in human fibroblasts during in vitro ageing and in some metabolic diseases as measured by a (low cytometric method. Biochim Biophys Acta 883: 580-584
355. Porfirio B, Dallapiccola B, Mokini V, Alimcna G, Gandini E (1983) Failure of dicpoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and hétérozygotes. Hum Genet 63: 117-120
356. Potter NU, Sarmousakis C, Li FP (1983) Cancer in relatives of patients with aplastic anemia. Cancer Genet Cytogenet 9: 61-69
357. Pritsos CA, Sartorelli AC (1986) Generation of reactive oxygen radicals through biactivation of mitomycin antibiotics. Cancer Res 46: 3528-3532
358. Pronk JC, Gibson RA, Savoia A, Wijker M, Morgan NV, Melchionda S, Ford D, Temtamy S, Ortega JJ, Janscn S et ai (1995) Localisation of the Fanconi anaemia complementation group A gene to chromosome I6q24.3. Nature Genet 11: 338-340
359. Rabbitts TH (1991) Translocations, master genes and differences between the origin of acute and chronic leukaemias. Cell 67: 641-644
360. Ramsay J, Birrell G (1995) Normal tissue radiosensitivity in breast cancer patients. Int J Radiât Oncol BiolPhys 31: 339-344
361. Randal J (1995a) Are mammograms a good idea for AT gene carriers? J Natl Cancer Inst 87: 1351
362. Randal J (1995b) ATM gene discovery may quiet carrier cancer risk debate. J Natl Cancer Inst 87: 1350-1351
363. Rasio T, Negrini M, Mancnti G, Dragani TA, Croce CM (1995) Loss of heterozygosity at chromosome llq in lung adenocarcinoma: identification of three independent regions. Cancer Res 55: 3988-3991
364. Reed WB, Epstein WL, Bodcr E, Sedgwick R (1966) Cutaneous manifestations of ataxia-telangiectasia. JAMA 195: 746-753
365. Rennert G (1991) The value of mammography in different ethnic groups in Israel - analysis of mortality reduction and costs using CANTrol. Cancer Detect Prevent 15: 477-481
366. Rey JP, Scott R, Muller H (1994) Apoptosis is not involved in the
367. Rilcy E, Caldwell R, Swift M (1979) Comparison of clinical features in Fanconi anemia probands and their subsequently diagnosed siblings. Am J Hum Genet 31: 82A
368. Roscndorff J, Bernstein R (1988) Fanconi's anemia -chromosome breakage studies in homozygotes and hetrozygotes. Cancer Genet Cytogenet 33: 175-183
369. Rosendorff J, Bernstein R, Macdougall L, Jenkins T (1987) Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa. Am J Med Genet 27: 793-797
370. Rosin MP, German J (1985) Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. Hum Genet 71: 187-191
371. Rosin MP, Ochs HD, Gatti RA, Boder E (1989) Heterogeneity of chromosomal breakage levels in epithelial tissue of ataxia-telangiectasia homozygotes and hétérozygotes. Hum Genet 83: 133-138
372. Rosselli F, Sanceau J, Wictzcrbin J, Moustacchi E (1992) Abnormal lymphokinc production: a novel feature of the genetic disease Fanconi anemia. I. Involvement of interleukin-6. Hum Genet 89: 42-48
373. Rosselli F, Sanceau J, Gluckman E, Wietzerbin J, Moustacchi E (1994) Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia. II. In vitro and in vivo spontaneous overproduction of tumor necrosis factor alpha. Blood 83: 1216-1225
374. Rosselli F, Ridet A, Soussi T, Duchaud E, Alapetitc C, Moustacchi E (1995) p53-dependent pathway of radio-induced apoptosis is altered in Fanconi anemia. Oncogene 10: 9-17
375. Rothstein JL, Johnson D, DcLoia JA, Skowronski J, Seller D, Knowlcs B (1992) Gene expression during prcimplantation mouse development. Genes Dev 6: 1190-1201
376. Rousset S, Nocentini S, Revet B, Moustacchi E (I990) Molecular analysis by electron microscopy of the removal of psoralen-photoinduced DNA cross-links in normal and Fanconi's anemia fibroblasts. Cancer Res 50: 2443-2448
377. Rowell S, Newman B, Boyd J, King M-C (1994) Inherited predisposition to breast and ovarian cancer. Am J Hum Genet 55: 861-865
378. Rudolph NS, Latt SA (1989) Flow cytometric analysis of X-ray sensitivity in ataxia telangiectasia.Mutât Res 211: 31-11
379. Rudolph NS, Nagasawa H, Little JB, Latt SA (I989) Identification of ataxia telangiectasia hétérozygotes by flow cytometric analysis of X-ray damage. Mutât Res 211: 19-29
380. 2 checkpoint results in differential radioscnsitization of the GI checkpoint-deficient and GI checkpointcompetent cells, Cancer Res 55: 139-142
381. Saadi AA, Palutke M, Kumar GK (1980) Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia. Hum Genet 55: 23-29
382. Saito H, Hammond AT, Moses RE (1993) Hypersensitivity to oxygen is a uniform and secondary defect in Fanconi anemia cells. Mutât Res 294: 255-262
383. Sala-Trepat M, Boyse J, Richard P, Papadopoulo D, Moustacchi E (1993) Frequencies of HPRT-Iymphocytes and glycophorin A variants erythrocytes in Fanconi anemia patients, their parents and control donors. Mutât Res 289: 115-126
384. Sanchez Y, Desany BA, Jones WJ, Liu Q, Wang B, Elledge SJ (1996) Regulation ofRAD53 by the ATM-like Kinascs MEC1 and TEL1 in yeast cell checkpoint pathways. Science 271: 357-360
385. Sankaranarayanan K, Charkraborty R (1995) Cancer predisposition, radioscnsitivity and the risk of radiation-induced cancers, I. Background Radiât Res 143: 121-143
386. Sasaki MS (1975) Is Fanconi's anaemia defective in a process essential to the repair of DNA cross links? Nature 257: 501-503
387. Sasaki MS (1978) Fanconi's anemia. A condition possibly associated with a defective DNA repair. In: Hanawalt PC, Friedberg EC, Fox CF (eds) DNA repair mechanisms. Academic, New York, pp 675-684
388. Sasaki MS (1989) The Japan Society of Human Genetics award lecture. Cytogenctic aspects of cancer predisposing genes. Jinrui Idengaku Zasshi 34: 1-16
389. Sasaki MS, Tonomura A (1973) A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents. Cancer Res 33: 1829-1836
390. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S et al (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753
391. Savoia A, Centra M, lanzano L, de Cillis GP, Zelante L, Buchwald M (1995) Characterization of the 5′ region of the Faconi anaemia group C (FACC) gene. Hum Mol Genet 4: 1321-1326
392. Scarpa M, Rigo A, Momo F, Isacchi G, Novelli G, Dallapiccola B (1985) Increased rate of Superoxide ion generation in Fanconi anemia erythrocytes. Biochem Biophys Res Commun 130: 127-132
393. Schalch DS, McFarlin DE, Barlow MH (1970) An unusual form of diabetes mellitus in ataxia telangiectasia. N Eng J Med 282: 1369-1402
394. Schindler D, Hoehn H (1988) Fanconi anemia mutation causes cellular susceptibility to ambient oxygen. Am J Hum Genet 43: 429-435
395. Schofield D, West DC, Anthony DC, Marshal R, Sklar J (1995) Correlation ofloss of heterozygosity at chromosome 9q with histological subtype in medulloblastomas. Am J Pathol 146: 472-480
396. Schroeder TM (1982) Genetically determined chromosome instability syndromes. Cytogenet Cell Genet 33: 119-132
397. Schroeder TM, Kurth R (1971) Spontaneous chromosomal breakage and high incidence of leukemia in inherited disease. Blood 37: 96-112
398. Schroeder TM, Anschütz F, Knopp A (1964) Spontane Chromosomenaberrationen bei familiärer Panmyelopathie Humangenetik 1: 194-196
399. Schroeder TM, Tilgen D, Kruger J, Vogel F (1976) Formal genetics of Fanconi's anemia. Hum Genet 32: 257-288
400. Schultz JC, Shahidi NT (1993) Tumor necrosis factor-alpha overproduction in Fanconi's anemia. Am J Hematol 42: 196-201
401. Schwarz A, Bhardwaj R, Aragane Y, Nahnke K, Ricmann H, Metze D, Luger TA, Schwanz T (1995) Ultraviolet-B-induccd apoptosis of keratinocytes: evidence for partial involvement of tumor necrosis factor-α in the formation of sunburn cells. J Invest Dermatol 104: 922-927
402. Scott D, Jones LA, Elyan SAG, Spreadborough A, Cowan R, Ribicro G (1993) Identification of A-T hétérozygotes. In: Gatti RA, Painter RB (eds) Ataxia-telangicctasia. Springer, Berlin Heidelberg New York, pp 101-116
403. Scott D, Spreadborough AR, Roberts SA (1994) Radiation-induced 62 delay and spontaneous chromosome aberrations in ataxia-telangicctasia homozygotes and hétérozygotes. Int J Radiât Biol 66: S157-163
404. Seal G, Brech K, Karp SJ, Cool BL, Sirover MA (1988) Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. Proc Natl Acad Sci USA 85: 2339-2343
405. Sedgwick RP, Boder E (1991) Ataxia-telangiectasia. In: deJong JMBV (ed) Hereditary neuropathies and spinocerebellar atrophies. Elsevier Science, New York, pp 347-423
406. Scllcri C, Satao T, Anderson S, Young NS, Maciejewski JP (1995) Intcrferon-gamma and tumor necrosis factor-alpha suppress both early and late stages of hematopoiesis and induce programmed cell death. J Cell Phys 165: 538-546
407. 2 as determined by alkaline elution. Biochim Biophys Acta 698: 237-242
408. 2 phase blockage in Fanconi anemia cells by caffeine: differences from cells arrested by X-irradiation. Mutât Res 308: 149-157
409. Seyschab H, Friedl R, Sun Y, Schindler D, Hoehn H, Hentze S, Schroedcr-Kurth T (1995) Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia. Blood 85: 2233-2237
410. Shanley SM, Dawkins H, Wainwright BJ, Wicking C, Hcenan P, Eldon M, Scarlc J, Chenevix-Trench G (1995) Fine deletion mapping on the long arm of chromosome 9 in sporadic and familiar basal cell carcinomas. Hum Mol Genet 4: 129-133
411. Shiloh Y, Tabor E, Decker Y (1982a) Abnormal response of ataxia-telangiectasia cells to agents that break the deoxyribose moiety of DNA via a targeted free radical mechanism. Carcinogenesis 4: 1317-1322
412. Shiloh Y, Tabor E, Bccker Y (1982b) The response of ataxia-tclangicctasia homozygous and heterozygous skin fibroblasts to ncocarzinostatin. Carcinogenesis 3: 815-820
413. Shiloh Y, Parshad R, Sanford KK, Jones GM (1986) Carrier detection in ataxia-tclangicctasia. Lancet 1: 689-690
414. Shiraishi Y, Sandberg AA (1978) Effects of mitomycin C on sister chromatid exchange in normal and Bloom's syndrome fibroblast. Mutât Res 49: 233-238
415. Shiraishi Y, Taguchi T, Ozawa M, Bamazai R (1989) Different mutations responsible for the elevated sister-chromatid exchange frequencies in Bloom syndrome and X-irradiated B-Iymphoblastoid cell lines originating from acute leukemia. Mutât Res 211: 273-278
416. Skirnisdottir S, Eiriksdottir G, Baldursson T, Barkarsdottir RB, Egilsson V, Ingvarrson S (1995) High frequency of allclic imbalance at chromosome region 16q22-23 in human breast cancer: correlation with high PgR and low S phase. Int J Cancer 64: 112-116
417. Spcctor BD, Filipovick AH, Perry GS III, Kersey JH (1982) Epidemiology of cancer in ataxia-telangicctasia. In: Bridges BA, Harnden DG (cds) Ataxia-telangiectasia. Wiley, New York, pp 103-138
418. Srcekantaiah C, DeBraekeleer M, Haas O (1991) Cytogenetic findings in cervical carcinoma: a statistical approach. Cancer Genet Cytogenet 53: 75-81
419. Stacey M, Thackcr S, Taylor AM (1989) Cultured skin keratinocytes from both normal individuals and basal cell naevus syndrome patients are more resistant to gamma-rays and UV light compared with cultured skin fibroblasts. Int J Radial Biol 56: 45-58
420. Stark R, Andre C, Thierry D, Cherel M, Galibcrt F, Gluckman E (1993) The expression of cytokine and cytokine receptor genes in long-term bone marrow culture in congenital and acquired bone marrow hypoplasias. Br J Haematol 83: 560-566
421. Strathdee CA, Duncan AM, Buchwald M (1992a) Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nature Genet 1: 196-198
422. Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992b) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 358: 434
423. Strich S (1963) Pathological findings in 3 cases of ataxia-telangiectasia. Acta Neurol Scand 42: 354-366
424. Strobcr W, Wochner RD, Barlow MH, McFarlin DE, Waldmann TA (1968) Immunoglobulin metabolism in ataxia telangiectasia. J Clin Invest 47: 1905-1915
425. Sullaba L, Henner K (1926) Contribution a l'indépendance de l'athétose double idiopathiquc et congénitale. Atteinte familiale, syndrome dystrophique, signa du réseau vasculaire conjonctival, intégrité psychique. Rev Neurol 1: 541-562
426. Summers WC, Sarkar SN, Glazer PM (1985) Direct and induciblc mutagenesis in mammalian cells. Cancer Surv 4: 517-528
427. Sung P, Prakash L, Maison SW, Prakash S (1987) RAD3 protein of Saccharomyccs ccrevisiae is a DNA helicase. Proc Natl Acad Sci USA 84: 8951-8955
428. Swift M (1971) Fanconi's anaemia in Ihe genetics of neoplasia. Nalure 230: 370-373
429. Swifl M (1994) Ionizing radiation, breast cancer, and ataxia-telangicclasia. J Nall Cancer Insl 86:1571-1572
430. Swifl M, Sholman L, Perry M, Chase C (1976) Malignant neoplasms in Ihe families of patienls with ataxia-telangieclasia. Cancer Res 35: 208-215
431. Swifl M, Caldwell RJ, Chase C (1980) Reassessmenl of cancer predisposition of Fanconi anaemia hétérozygotes. J Natl Cancer Inst 65: 863-867
432. Swift M, Morrcll D, Cromartie E, Chambcrlin AR, Skolnick MH, Bishop DT (1986) The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 39: 573-583
433. Swift M, Reitnauer PJ, Morrel D, Chase CL (1987) Breast and other cancers in families with ataxiateloangeictasia. N Engl J Med 316: 1289-1294
434. Swift M, Morrell D, Massey RB, Chase CL (1991) Incidence of cancer in 161 families affected by ataxiatelangiectasia. N Engl J Med 325: 1831-1836
435. Szalay GC (1963) Dwarfism with skin manifestations. J Pediat 62: 686-695
436. Taccioli GE, Gottlieb TM, Blunt T, Priestley A, Demengcot J, Mizuta R, Lehmann AR, Alt FW, Jackson SP, Jeggo PA (1994) Ku80: product of the XRCC5 gene and its role in DNA repair and V(D)J recombination. Science 265: 1442-1445
437. Taylor AMR (1978) Unrepaired DNA strand breaks in irradiated ataxia-telangiectasia lymphocytes suggested from cytogenetic observations. Mutât Res 50: 407-418
438. Taylor AMR (1992) Ataxia telangiectasia genes and predisposition to leukaemia, lymphoma and breast cancer. Br J Cancer 66: 5-9
439. Taylor AMR, Harnden DG, Arlett CF, Harcourt SA, Lehmann AR, Stevens S, Bridges BA (1975) Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 258: 427-428
440. Taylor AMR, Metcalfe JA, McConville C (1989) Increased radiosensitivity and the basic defect in ataxia telangiectasia. Int J Radiât Biol 56: 677-684
441. Taylor AMR, Oxford JM, Metcalfe JA (1981) Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia. Int J Cancer 27: 311-319
442. Teebor GW, Düker NJ (1975) Human cndonuclcase activity for DNA apurinic sites. Nature 158: 544-547
443. Thiberville L, Bourguignon J, Metayer J, Bost F, Diarra-Mehrpour M, Bignon J, Lam S, Martin JP, Nouvel G (1995) Frequency and prognostic evaluation of 3p21-22 allelic losses in non-small-cell lung cancer. Int J Cancer 64: 371-377
444. Tomlinson IP, Strickland JE, Lee AS, Bromley L, Evans MF, Morion J, McGce JO (1995) Loss of heterozygosily on chromosome 11 q in breasl cancer. J Clin Pathol 48: 424-428
445. Tomlinson IPM, Gammack AJ, Stickland JE, Mann GJ, MacKier RTM, lefford RF, McGee JO (1993) Loss of hcterozygosity in malignant melanoma at loci on chromosome 11 and 17 implicated in the pathogenesis of other cancers. Genes Chromosomes Cancer 7: 169-172
446. Troelstra C, Jaspers NG (1994) Recombination and repair. Ku starts at the end. Curr Biol 4: 1149-1151
447. Tsai-Pflugfelder M, Liu L, Liu A, Tewey K, Whang-Peng J, Knutsen T, Huebner K, Crocc C, Wang J (1988) Cloning and sequencing of cDNA encoding human DNA topoisomerase II and localizating of the gene to chromosome region 17q21-22. Proc Nail Acad Sci USA 85: 7177-7181
448. Turesson I (1990) Individual variation and dose dependency in the progression rate of skin telangiectasias. Int J Radiât Oncol Biol Phys 19: 1569-1574
449. Uhrhammer N, Cancannon P, Huo Y, Nakamura Y, Gatti RA (1994) A pulsed-field gel electrophoresis map in thé ataxia-telangiectasia region of chromosome Ilq22.3. Genomics 20: 278-280
450. Uhrhammer N, Lange E, Porras O, Naeim A, Chen X, Sheikhavandi S, Chiplunkar S, Yang L, Dandekar S, Liang T et al (1995) Sublocalization of an ataxia-telangiectasia gene distal to Dl 1S384 by ancestral haplotyping in Costa Rican families. Am J Hum Genet 57: 103-111
451. van Laar T, Steegenga WT, Jochemsen AG, Terleth C, van der Eb AJ (1994) Bloom's syndrome cells GM1492 lack detectable p53 protein but exhibit normal GI cell-cycle arrest after UV irradiation. Oncogene9:981-983
452. van Lecuven H (1933) Ein Fall von "konstitutioneller infantiler perniziösähnlicher Anämie" (Fanconi). Folia Haematol (Lpz) 49: 434-143
453. Verlandcr PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD (1994) Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54: 595-601
454. Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AD (1995) Carrier frequency of the IVS4 + 4 A → T mutation of the Fanconi anemia gene FACC in the Ashkenazi Jewish population. Blood 86: 4034-4038
455. Vijayalakshmi E, Wunder P, Schrocder TM (1985) Spontaneous 6-thioguanine-resistant lymphocytes in Fanconi anemia patients and their heterozygous parents. Hum Genet 70: 264-270
456. Vogel VG (1994) Screening younger women at risk for breast cancer. Monogr Natl Cancer Inst 16: 55-60
457. Vogelstein B, Kinzler KW (1993) The multistep nature of cancer. Trends Genet 9: 138-141
458. Vollberg TM, Seal G, Sirover MA (1987) Monoclonal antibodies detect conformational abnormality of uracil DNA glycosylase in Bloom's syndrome cells. Carcinogenesis 8: 1725-1729
459. Waghray M, Sigut D, Einspenner M, Kunhi M, al-Scdairy ST, Hannan MA (1992) Chronic gammairradiation results in increased cell killing and chromosomal aberration with specific breakpoints in fibroblast cell strains derived from non-Hodgkin's lymphoma patients. Mutât Res 284: 223-231
460. Watts PM, Louis EJ, Borts RH, Hickson ID (1995) Sgs 1: a eukaryotic homolog of E. coli RecQ that interacts with topoisomerase II in vivo and is required for faithful chromosome segregation. Cell 81: 253-260
461. Weeks DE, Paterson MC, Lange K, Andrais B, Davis RC, Yoder F, Gatti RA (1991) Assessment of chronic gamma radioscnsitivity as an in vitro assay for hétérozygote identification of ataxia-telangiectasia. Radiât Res 128: 90-99
462. Weemaes CM, Bakkercn JA, Haraldsson A, Smeets DF (1991) Immunological studies in Bloom's syndrome. A follow-up report. Ann Genet 34: 201-205
463. Weemaes CM, Smeets DF, van der Bürgt CJ (1994) Nijmegen breakage syndrome: a progress report. Int J Radiât Biol 66: S185-188
464. Weichselbaum RR, Nove J, Little JB, (1980) X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res 40: 920-925
465. Weincrt TA, Kiser GL, Hartwell LH (1994) Mitotic checkpoint genes in budding yeast and the dependence of mitosis on DNA replication and repair. Genes Dcv 8: 652-665
466. Weitzel JN, Patel J, Smith DM, Goodman A, Safaii H, Ball HG (1994) Molecular genetic changes associated with ovarian cancer. Gynecol Oncol 55: 245-252
467. Weksbcrg R, Buchwald M, Sargent P, Thompson MW, Siminovitch L (1979) Specific cellular defects in patients with Fanconi anemia. J Cell Physiol 101: 311-323
468. Weksbcrg R, Smith C, Anson-Cartwright L, Maloncy K (1988) Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. Am J Hum Genet 42: 816-824
469. Weshimer K, Swift M (1982) Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia and xcroderma pigmentosum. Am J Hum Genet 34: 781-793
470. West CM, Hendry J, Scott D et al (1991) 25th Paterson symposium - is there a future for radiosensitivity testing? Br J Cancer 24: I46s-152s
471. West CM, Elyan SA, Berry P, Cowan R, Scott D (1995) A comparison of the radiosensitivity of lymphocytes from normal donors, cancer patients, individuals with ataxia-telangiectasia (A-T) and A-T hétérozygotes. Int J Radiât Biol 68: 197-203
472. Wevrick R, Clarke CA, Buchwald M (1993) Cloning and analysis of murine Fanconi anemia group C cDNA. Hum Mol Genet 2: 655-662
473. Whitney M, Thayer M, Reifsteck C, Olson S, Smith L, Jakobs PM, Leach R, Naylor S, Joenje H, Grompe M (1995) Microccll mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nature Genet 11: 341-343
474. Wiencke JK, Wara DW, Little JB, Kelsey KT (1992) Heterogeneity in the clastogenic response to X-rays in lymphocytes from ataxia-telangiectasia hétérozygotes and controls. Cancer Causes Control 3:237-245
475. Willis AE, Lindahl T (1987) DNA ligase I deficiency in Bloom's syndrome. Nature 325: 355-357
476. Winqvist R, Hampton GM, Mannermaa A, Blanco G, Alavaikko M, Kiviniemi H, Taskinen PJ, Evans GA, Wright FA, Newsham I et al (1995) Loss of heterozygosity for chromosome 11 in primary human breast tumors is associated with poor survival after metastasis. Cancer Res 55: 2660-2664
477. Woods CG, Taylor AM (1992) Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 82: 169-179
478. Woods CG, Bundey SE, Taylor AMR (1990) Unusual features in the inheritance of ataxia telangiectasia. Hum Genet 84: 555-562
479. Wooster R, Ford D, Mangion J, Ponder BA, Peto J, Easton DF, Stratton MR (1993) Absence of linkage to the ataxia telangiectasia locus in familial breast cancer. Hum Genet 92: 91-94
480. Wride MA, Sanders EJ (1995) Potential roles for tumor necrosis factor a during embryonic development. Anat Embryol (Bevl) 191: 1-10
481. Wride MA, Lapchak PH, Sanders EJ (1994) Distribution of TNFa-like proteins correlates with some regions of programmed cell death in the chick embryo. Int J Dev Biol 38: 673-682
482. Wunder E, Fleischer-Reischmann B (1983) Response oflymphocytes from Fanconi's anemia patients and their heterozygous relatives to 8-methoxy-psoralene in a cloning survival test system. Hum Genet 64: 167-172
483. Wunder E, Mortensen BT, Schilling F, Hcnon PR (1993) Anomalous plasma concentrations and impaired secretion of growth factors in Fanconi's anemia. Stem Cells (Dayt) 11 [Suppl 2]: 144-149
484. Yamashita T, Barber DL, Zhu Y, Wu N, D'Andréa AD (1994) The Fanconi anemia polypcptide FACC is localized to the cytoplasm. Proc Natl Acad Sci USA 91: 6712-6716
485. Yonish-Rouach E, Resnitzky D, Lotem J, Sachs L, Kimchi A, Oren M (1991) Wild-type p53 induces apoptosis of myeloid leukaemic cells that is inhibited by interleukin-6. Nature 352: 345-247
486. Yoshimitsu K, Kobayashi Y, Usui T (1984) Decreased Superoxide dismutase activity of erythrocytes and leukocytes in Fanconi's anemia. Acta Haematol 72: 208-210
487. Young BR, Painter RB (1989) Radiorcsistant DNA synthesis and human genetic diseases. Hum Genet 82: 113-117
488. Youssoufian H (1994) Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc Natl Acad Sci USA 91: 7975-7979
489. Youssoufian H, Auerbach AD, Verlander PC, Steimle V, Mach B (1995) Identification of cytosolic proteins that bind to the Fanconi anemia complementation group C polypeptide in vitro. Evidence for a multimeric complex. J Biol Chem 270: 9876-9882
490. Yumoto Y, Hanafusa T, Hada H, Morita T, Oguchi S, Shinji N, Mitani T, Hamaya K, Koide N, Tsuji T (1995) Loss of heterozygosity and analysis of mutation of p53 in hepatocellular carcinoma. J Gastrocnterol Hepatol 10: 179-185
491. Zambeti-Bosseler F, Scott D (1980) Cell death, chromosome damage and mitotic delay in normal human, ataxia telangicctasia and retinoblastoma fibroblasts after X-irradiation. Int J Radial Biol 39: 547-558
492. Zhang Y, Harada A, Bluethmann H, Wang JB, Nakao S, Matsuchima K (1995) Tumor necrosis factor (TNF) is a physiologic regulator of hematopoietic progenitor cells: increase of early hematopoietic progenitor cells in TNF receptor p55-deficient mice in vivo and potent inhibition of progenitor cell proliferation by TNF alpha in vitro. Blood 86: 2930-2937
493. Zimmerman RJ, Chan A, Leadon SA (1989) Oxidative damage in murine tumor cells treated in vitro by rccombinant human tumor necrosis factor. Cancer Res 49: 1644-1648