Molecular genetics of breast cancer progression

Seminars in Cancer Biology

Volumn 9, Issue 4, 1999, Pages 277-288

  Ingvarsson, Sigurdur ^a  

^a LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

Author keywords

Amplification; Breast cancer; Deletion; Loss of heterozygosity; Mutation; Oncogene; Tumor progression; Tumor suppressor gene

Indexed keywords

CADHERIN; CELL ADHESION MOLECULE; ESTROGEN RECEPTOR; PROTEIN P53; PROTEIN TYROSINE PHOSPHATASE; UVOMORULIN;

BREAST CANCER; CANCER GENETICS; CANCER SUSCEPTIBILITY; CHROMOSOME; CHROMOSOME DAMAGE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC DISORDER; GENETIC PREDISPOSITION; HUMAN; MOLECULAR GENETICS; ONCOGENE; REVIEW; TUMOR GROWTH; TUMOR SUPPRESSOR GENE;

EID: 0032821552     PISSN: 1044579X     EISSN: None     Source Type: Journal    
DOI: 10.1006/scbi.1999.0124     Document Type: Article

References (150)

1. Kerangueven F, Noguchi T, Coulier F, Allione F, Wargniez V, Simony-Lafontaine J, Longy M, Jacquemier J, Sobol H, Eisinger F, Birnbaum D. Genome-wide search for loss of heterozygosity shows extensive genetic diversity of human breast carcinomas. Cancer Res. 57:1997;5469-5474.
2. Beckmann MW, Niederacher D, Schnurch HG, Gusterson BA, Bender HG. Multistep carcinogenesis of breast cancer and tumour heterogeneity. J Mol Med. 75:1997;429-439.
3. Bieche I. Champeme MH. Lidereau R. A tumor suppressor gene on chromosome 1p32-pter controls the amplification of MYC family genes in breast cancer. Cancer Res. 54:1994;4274-4276.
4. Hoggard N, Brintnell B, Howell A, Weissenbach J, Varley J. Allelic imbalance on chromosome 1 in human breast cancer. II. Microsatellite repeat analysis. Genes Chromosomes Cancer. 12:1995;24-31.
5. Nagai H, Negrini M, Carter SL, Gillum DR, Rosenberg AL, Schwartz GF, Croce CM. Detection and cloning of a common region of loss of heterozygosity at chromosome 1p in breast cancer. Cancer Res. 55:1995;1752-1757.
6. Loupart ML, Armour J, Walker R, Adams S, Brammar W, Varley J. Allelic imbalance on chromosome 1 in human breast cancer. I. Minisatellite and RFLP analysis. Genes Chromosomes Cancer. 12:1995;16-23.
7. Ragnarsson G, Sigurdsson A, Eiriksdottir G, Barkardottir RB, Jonasson JG, Ingvarsson S. Loss of heterozygosity at chromosome 1p in human breast cancer: association with high S-phase, reduced patient survival and deletions at other chromosome regions. Int J Oncol. 9:1996;731-736.
8. Borg A, Zhang QX, Olsson H, Wenngren E. Chromosome 1 alterations in breast cancer: allelic loss on 1p and 1q is related to lymphogenic metastases and poor prognosis. Genes Chromosomes Cancer. 5:1992;311-320.
9. Chen LC, Matsumura K, Deng G, Kurisu W, Ljung BM, Lerman MI, Waldman FM, Smith HS. Deletion of two separate regions on chromosome 3p in breast cancers. Cancer Res. 54:1994;3021-3024.
10. Eiriksdottir G, Bergthorsson JT, Sigurdsson H, Gudmundsson J, Skirnisdottir S, Egilsson V, Barkardottir RB, Ingvarsson S. Mapping of chromosome 3 alterations in human breast cancer using microsatellite PCR markers: correlation with clinical variables. Int J Oncol. 6:1995;369-375.
11. Devilee P, van Vliet M, van Sloun P, Kuipers Dijkshoorn N, Hermans J, Pearson PL, Cornelisse CJ. Allelotype of human breast carcinoma: a second major site for loss of heterozygosity is on chromosome 6q. Oncogene. 6:1991;1705-1711.
12. Bragadottir G, Eiriksdottir G, Sigurdsson A, Barkardottir RB, Gudmundsson J, Jonasson JG, Ingvarsson S. Loss of heterozygosity at chromosome 6q correlates with tumor progression and patient survival. Int J Oncol. 1995;871-876.
13. Orphanos V, McGown G, Hey Y, Boyle JM, Santibanez-Koref M. Proximal 6q, a region showing allele loss in primary breast cancer. Br J Cancer. 71:1995;290-293.
14. Iwase H, Greenman JM, Barnes DM, Bobrow L, Hodgson S, Mathew CG. Loss of heterozygosity of the oestrogen receptor gene in breast cancer. Br J Cancer. 71:1995;448-450.
15. Sheng ZM, Marchetti A, Buttitta F, Champeme MH, Campani D, Bistocchi M, Lidereau R, Callahan R. Multiple regions of chromosome 6q affected by loss of heterozygosity in primary human breast carcinomas. Br J Cancer. 73:1996;144-147.
16. Bieche I, Champeme MH, Matifas F, Hacene K, Callahan R, Lidereau R. Loss of heterozygosity on chromosome 7q and aggressive primary breast cancer. Lancet. 339:1992;139-143.
17. Champeme MH, Bieche I, Beuzelin M, Lidereau R. Loss of heterozygosity on 7q31 occurs early during breast tumorigenesis. Genes Chromosomes Cancer. 12:1995;304-306.
18. Zenklusen JC, Bieche I, Lidereau R, Conti CJ. (C-A)n microsatellite repeat D7S522 is the most commonly deleted region in human primary breast cancer. Proc Natl Acad Sci USA. 91:1994;12155-12158.
19. Kristjansson AK, Eiriksdottir G, Ragnarsson G, Sigurdsson A, Gudmundsson J, Barkardottir RB, Jonasson JG, Egilsson V, Ingvarsson S. Loss of heterozygosity at chromosome 7q in human breast cancer: association with clinical variables. Anticancer Res. 17:1997;93-98.
20. Yaremko ML, Recant WM, Westbrook CA. Loss of heterozygosity from the short arm of chromosome 8 is an early event in breast cancers. Genes Chromosomes Cancer. 13:1995;186-191.
21. Yaremko ML, Kutza C, Lyzak J, Mick R, Recant WM, Westbrook CA. Loss of heterozygosity from the short arm of chromosome 8 is associated with invasive behavior in breast cancer. Genes Chromosomes Cancer. 16:1996;189-195.
22. Kreipe H, Feist H, Fischer L, Felgner J, Heidorn K, Mettler L. Parwaresch R. Amplification of c-myc but not of c-erbB-2 is associated with high proliferative capacity in breast cancer. Cancer Res. 53:1993;1956-1961.
23. Eiriksdottir G, Sigurdsson A, Jonasson JG, Agnarsson BA, Sigurdsson A, Gudmundsson J, Bergthorsson JT, Barkardottir RB, Egilsson V, Ingvarsson S. Loss of heterozygosity on chromosome 9 in human breast cancer: association with clinical variables and genetic changes at other chromosome regions. Int J Cancer. 64:1995;378-382.
24. Brenner AJ, Aldaz CM. Chromosome 9p allelic loss and p16/CDKN2 in breast cancer and evidence of p16 inactivation in immortal breast epithelial cells. Cancer Res. 55:1995;2892-2895.
25. Singh B, Ittmann MM, Krolewski JJ. Sporadic breast cancers exhibit loss of heterozygosity on chromosome segment 10q23 close to the Cowden-disease locus. Genes Chromosomes Cancer. 21:1998;166-171.
26. Champeme MH, Bieche I, Lizard S, Lidereau R. 11q13 amplification in local recurrence of human primary breast cancer. Genes Chromosomes Cancer. 12:1995;128-133.
27. Schuuring E, Verhoeven E, van Tinteren H, Peterse JL, Nunnink B, Thunnissen FB, Devilee P, Cornelisse CJ, van de Vijver MJ, Mooi WJ et al. Amplification of genes within the chromosome 11q13 region is indicative of poor prognosis in patients with operable breast cancer. Cancer Res. 52:1992;5229-5234.
28. Hampton GM, Mannermaa A, Winquist R, Alavaikko M, Blanco G, Taskinen PJ, Kiviniemi H, Newsham I, Cavenee WK, Evans GA. Loss of heterozygosity in sporadic human breast carcinoma: a common region between 11q22 and 11q23.3. Cancer Res. 54:1994;4586-4589.
29. Carter SL, Negrini M, Baffa R, Gillum DR, Rosenberg AL, Schwartz GF, Croce CM. Loss of heterozygosity at 11q22-q23 in breast cancer. Cancer Res. 54:1994;6270-6274.
30. Gudmundsson J, Barkardottir RB, Eiriksdottir G, Arason A, Egilsson V, Ingvarsson S. Loss of heterozygosity at chromosome 11 in breast cancer: association of prognostic factors with genetic alterations. Br J Cancer. 72:1995;696-701.
31. Winqvist R, Hampton GM, Mannermaa A, Blanco G, Alavaikko M, Kiviniemi H, Taskinen PJ, Evans GA, Wright FA, Newsham I et al. Loss of heterozygosity for chromosome 11 in primary human breast tumors is associated with poor survival after metastasis. Cancer Res. 55:1995;2660-2604.
32. Cleton-Jansen AM, Collins N, Lakhani SR, Weissenbach J, Devilee P, Cornelisse CJ, Stratton MR. Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13. Br J Cancer. 72:1995;1241-1244.
33. Kerangueven F, Allione F, Noguchi T, Adelaide J, Sobol H, Jacquemier J, Birnbaum D. Patterns of loss of heterozygosity at loci from chromosome arm 13q suggests a possible involvement of BRCA2 in sporadic breast tumors. Genes Chromosomes Cancer. 13:1995;291-294.
34. Hamann U, Herbold C, Costa S, Solomayer EF, Kaufmann M, Bastert G, Ulmer HU, Frenzel H, Komitowski D. Allelic imbalance on chromosome 13q: evidence for the involvement of BRCA2 and RB1 in sporadic breast cancer. Cancer Res. 56:1996;1988-1990.
35. Eiriksdottir G, Johannesdottir G, Ingvarsson S, Björnsdottir IB, Jonasson JG, Egilsson V, Barkardottir RB. Mapping loss of heterozygosity at chromosome 13q: loss at 13q12-q13 associates with breast tumour progression and poor prognosis of patients. Eur J Cancer. 34:1998;2076-2081.
36. Tsuda H, Hirohashi S. Identification of multiple breast cancers of multicentric origin by histological observations and distribution of allele loss on chromosome 16q. Cancer Res. 55:1995;3395-3398.
37. Cleton-Jansen AM, Moerland EW, Kuipers-Dijkshoorn NJ, Callen DF, Sutherland GR, Hansen B, Devilee P, Cornelisse CJ. At least two different regions are involved in allelic imbalance on chromosome arm 16q in breast cancer. Genes Chromosomes Cancer. 9:1994;101-107.
38. Skirnisdottir S, Eiriksdottir G, Baldursson T, Barkardottir RB, Egilsson V, Ingvarsson S. High frequency of allelic imbalance at chromosome region 16q22-q23 in human breast cancer: correlation with high PgR and low S-phase. Int J Cancer. 64:1995;112-116.
39. Dorion-Bonnet F, Mautalen S, Hostein I, Longy M. Allelic imbalance study of 16q in human primary breast carcinomas using microsatellite markers. Genes Chromosomes Cancer. 14:1995;171-181.
40. Cornelis RS, van Vliet M, Vos CB, Cleton-Jansen AM, van de Vijver MJ, Peterse JL, Khan PM, Borresen AL, Cornelisse CJ, Devilee P. Evidence for a gene on 17p13.3, distal to TP53, as a target for allele loss in breast tumors without p53 mutations. Cancer Res. 54:1994;4200-4206.
41. Isomura M, Tanigami A, Saito H, Harada Y, Katagiri T, Inazawa J. Ledbetter DH. Nakamura Y. Detailed analysis of loss of heterozygosity on chromosome band 17p13 in breast carcinoma on the basis of a high-resolution physical map with 29 markers. Genes Chromosomes Cancer. 9:1994;173-179.
42. Stack M, Jones D, White G, Liscia DS, Venesio T, Casey G, Crichton D, Varley J, Mitchell E, Heighway J et al. Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3. Hum Mol Genet. 4:1995;2047-2055.
43. Cornelis RS, Devilee P, van Vliet M, Kuipers-Dijkshoorn N, Kersenmaeker A, Bardoel A, Khan PM, Cornelisse CJ. Allele loss patterns on chromosome 17q in 109 breast carcinomas indicate at least two distinct target regions. Oncogene. 8:1993;781-785.
44. Phelan CM, Borg A, Cuny M, Crichton DN, Baldursson T, Andersen TI, Caligo MA, Lidereau R, Lindblom A, Seitz S, Kelsell D, Hamann U, Rio P, Thorlacius S, Papp J, Olah E, Ponder B, Bignon YJ, Scherneck S, Barkardottir R, Borresen-Dale AL, Eyfjord J, Theillet C, Thompson AM, Larsson C. Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters. Cancer Res. 58:1998;1004-1012.
45. Thompson AM, Morris RG, Wallace M, Wyllie AH, Steel CM, Carter DC. Allele loss from 5q21 (APC/MCC) and 18q21 (DCC) and DCC mRNA expression in breast cancer. Br J Cancer. 68:1993;64-68.
46. Huang TH, Yeh PL, Martin MB, Straub RE, Gilliam TC, Caldwell CW, Skibba JL. Genetic alterations of microsatellites on chromosome 18 in human breast carcinoma. Diagn Mol Pathol. 4:1998;66-72.
47. Schenk M, Leib-Mosch C, Schenck IU, Jaenicke M, Indraccolo S, Saeger HD, Dallenbach-Hellweg G, Hehlmann R. Lower frequency of allele loss on chromosome 18q in human breast cancer than in colorectal tumors. J Mol Med. 74:1996;155-159.
48. Huiping C, Eiriksdottir G, Sigurdsson A, Sigurgeirsdottir JR, Barkardottir RB, Egilsson V, Ingvarsson S. High frequency of LOH at chromosome 18q in human breast cancer: association with high S-phase fraction and low progesterone receptor content. Anticancer Res. 18:1998;1031-1036.
49. Kallioniemi A, Kallioniemi OP, Piper J, Tanner M, Stokke T, Chen L, Smith HS, Pinkel D, Gray JW, Waldman FM. Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization. Proc Natl Acad Sci USA. 91:1994;2156-2160.
50. Muleris M, Almeida A, Gerbault-Seureau M, Malfoy B, Dutrillaux B. Detection of DNA amplification in 17 primary breast carcinomas with homogeneously staining regions by a modified comparative genomic hybridization technique. Genes Chromosomes Cancer. 10:1994;160-170.
51. Courjal F, Cuny M, Rodriguez C, Louason G, Speiser P, Katsaros D, Tanner MM, Zeillinger R, Theillet C. DNA amplifications at 20q13 and MDM2 define distinct subsets of evolved breast and ovarian tumours. Br J Cancer. 74:1996;1984-1989.
52. Tanner MM, Tirkkonen M, Kallioniemi A, Isola J, Kuukasjarvi T, Collins C, Kowbel D, Guan XY, Trent J, Gray JW, Meltzer P, Kallioniemi OP. Independent amplification and frequent co-amplification of three nonsyntenic regions on the long arm of chromosome 20 in human breast cancer. Cancer Res. 56:1996;3441-3445.
53. Iida A, Kurose K, Isobe R, Akiyama F, Sakamoto G, Yoshimoto M, Kasumi F, Nakamura Y, Emi M. Mapping of a new target region of allelic loss to a 2-cM interval at 22q13.1 in primary breast cancer. Genes Chromosomes Cancer. 21:1998;108-112.
54. Loupart ML, Adams S, Armour JA, Walker R, Brammar W, Varley J. Loss of heterozygosity on the X chromosome in human breast cancer. Genes Chromosomes Cancer. 13:1995;229-238.
55. Theillet C, Adnane J, Szepetowski P, Simon MP, Jeanteur P, Birnbaum D, Gaudray P. BCL-1 participates in the 11q13 amplification found in breast cancer. Oncogene. 5:1990;147-149.
56. Bieche I, Tomasetto C, Regnier CH, Moog-Lutz C, Rio MC, Lidereau R. Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer. Cancer Res. 56:1996;3886-3890.
57. Pauletti G, Godolphin W, Press MF, Slamon DJ. Detection and quantitation of HER-2/neu gene amplification in human breast cancer archival material using fluorescence in situ hybridization. Oncogene. 13:1996;63-72.
58. Gusterson BA, Machin LG, Gullick WJ, Gibbs NM, Powles TJ, Elliott C, Ashley S, Monaghan P, Harrison S. c-erbB-2 expression in benign and malignant breast disease. Br J Cancer. 58:1988;453-457.
59. Kallioniemi OP, Holli K, Visakorpi T, Koivula T, Helin HH, Isola JJ. Association of c-erbB-2 protein over-expression with high rate of cell proliferation, increased risk of visceral metastasis and poor long-term survival in breast cancer. Int J Cancer. 49:1991;650-655.
60. McIntosh GG, Anderson JJ, Milton I, Steward M, Parr AH, Thomas MD, Henry JA, Angus B, Lennard TW, Horne CH. Determination of the prognostic value of cyclin D1 overexpression in breast cancer. Oncogene. 11:1995;885-891.
61. Press MF, Pike MC, Chazin VR, Hung G, Udove JA, Markowicz M, Danyluk J, Godolphin W, Sliwkowski M, Akita R et al. Her-2/neu expression in node-negative breast cancer: direct tissue quantitation by computerized image analysis and association of overexpression with increased risk of recurrent disease. Cancer Res. 53:1993;4960-4970.
62. Baselga J, Tripathy D, Mendelsohn J, Baughman S, Benz CC, Dantis L, Sklarin NT, Seidman AD, Hudis CA, Moore J, Rosen PP, Twaddell T, Henderson IC, Norton L. Phase II study of weekly intravenous recombinant humanized anti-p185HER2 monoclonal antibody in patients with HER2/neu-overexpressing metastatic breast cancer. J Clin Oncol. 14:1996;737-744.
63. Hartmann A, Blaszyk H, Kovach JS, Sommer SS. The molecular epidemiology of p53 gene mutations in human breast cancer. TIG. 13:1997;27-33.
64. Kastan MB, Zhan Q, el-Deiry WS, Carrier F, Jacks T, Walsh WV, Plunkett BS. Vogelstein B. Fornace AJ Jr. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell. 71:1992;587-597.
65. Kuerbitz SJ, Plunkett BS, Walsh WV, Kastan MB. Wild-type p53 is a cell cycle checkpoint determinant following irradiation. Proc Natl Acad Sci USA. 89:1992;7491-7495.
66. Yin Y, Tainsky MA, Bischoff FZ, Strong LC, Wahl GM. Wild-type p53 restores cell cycle control and inhibits gene amplification in cells with mutant p53 alleles. Cell. 70:1992;937-948.
67. el-Deiry WS, Harper JW, O'Connor PM, Velculescu VE, Canman CE, Jackman J, Pietenpol JA, Burrell M, Hill DE, Wang Y et al. WAF1/CIP1 is induced in p53-mediated G1 arrest and apoptosis. Cancer Res. 54:1994;1169-1174.
68. Miyashita T, Reed JC. Tumor suppressor p53 is a direct transcriptional activator of the human bax gene. Cell. 80:1995;293-299.
69. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 250:1990;1233-1238.
70. Berx G, Cleton-Jansen AM, Nollet F, de Leeuw WJ, van de Vijver M, Cornelisse C, van Roy F. E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J. 14:1995;6107-6115.
71. Berx G, Cleton-Jansen AM, Strumane K, de Leeuw WJ, Nollet F, van Roy F, Cornelisse C. E-cadherin is inactivated in a majority of invasive human lobular breast cancers by truncation mutations throughout its extracellular domain. Oncogene. 13:1996;1919-1925.
72. Vos CB, Cleton-Jansen AM, Berx G, de Leeuw WJ, ter Haar NT, van Roy F, Cornelisse CJ, Peterse JL, van de Vijver MJ. E-cadherin inactivation in lobular carcinoma in situ of the breast: an early event in tumorigenesis. Br J Cancer. 76:1997;1131-1133.
73. Oka H, Shiozaki H, Kobayashi K, Inoue M, Tahara H, Kobayashi T, Takatsuka Y, Matsuyoshi N, Hirano S, Takeichi M et al. Expression of E-cadherin cell adhesion molecules in human breast cancer tissues and its relationship to metastasis. Cancer Res. 53:1993;1696-1701.
74. Gamallo C, Palacios J, Benito N. Expression of E-cadherin in 23 0 infiltrating ductal breast carcinomas - relationship to clinicopathologic features. Int J Oncol. 9:1996;1207-1212.
75. Knudson AG. Mutation and cancer: statistical study of retinobla stoma. Proc Natl Acad Sci USA. 68:1971;820-823.
76. Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE. E-cadherin germline mutations in familial gastric cancer. Nature. 392:1998;402-405.
77. Murphy LC, Dotzlaw H, Leygue E, Douglas D, Coutts A, Watson PH. Estrogen receptor variants and mutations. J Ster Biochem Mol Biol. 62:1997;363-372.
78. Dowsett M, Daffada A, Chan CM, Johnston SR. Oestrogen receptor mutants and variants in breast cancer. Eur J Cancer. 33:1997;1177-1183.
79. Pfeffer U, Fecarotta E, Vidali G. Coexpression of multiple estrogen receptor variant messenger RNAs in normal and neoplastic breast tissues and in MCF-7 cells. Cancer Res. 55:1995;2158-2165.
80. Leygue ER, Huang A, Murphy LC. Estrogen receptor variants in normal human mammary tissue. J Natl Cancer Inst. 88:1996;284-290.
81. Wang M, Dotzlaw H, Fuqua SA, Murphy LC. A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion. Breast Cancer Res Treat. 44:1997;145-151.
82. Zhang QX, Borg A, Wolf DM, Oesterreich S, Fuqua SA. An estrogen receptor mutant with strong hormone-independent activity from a metastatic breast cancer. Cancer Res. 57:1997;1244-1249.
83. England GM, Bilimoria MM, Chen ZH, Assikis VJ, Muenzner HD, Jordan VC. Characterization of a point mutation in the hormone binding domain of the estrogen receptor from an estrogen independent breast tumor. Int J Oncol. 12:1998;981-986.
84. Zelada-Hedman M, Borresen-Dale AL, Lindblom A. Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation. Hum Mut. 9:1997;289.
85. Rhei E, Kang L, Bogomolniy F, Federici MG, Borgen PI, Boyd J. Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. Cancer Res. 57:1997;3657-3659.
86. Ueda K, Nishijima M, Inui H, Watatani M, Yayoi E, Okamura J, Yasutomi M, Nakamura Y, Miyoshi Y. Infrequent mutations in the PTEN/MMAC1 gene amount primary breast cancer. Jap J Cancer Res. 89:1998;17-21.
87. Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji HL, Dann J, Swisshelm K, Suchard D, Macleod PM, Kvinnsland S, Gjertsen BT, Heimdal K, Lubs H, Moller P, King MC. Inherited mutations in PTEN that are associated with breast cancer, Cowden-disease, and juvenile polyposis. Am J Hum Genet. 61:1997;1254-1260.
88. Miki Y, Swensen J, Shattuck-Eidens D, Futreal AP, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett ML, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JK, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb S, Skolnick MH. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 266:1994;66-71.
89. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G, Barfoot R, Hamoudi R, Patel S, Rice C, Biggs P, Hashim Y, Smith A, Connor F, Arason A, Gudmundsson J, Ficenec D, Kelsell D, Ford D, Tonin P, Bishop DT, Spurr NK, Ponder BAJ, Eeles R, Peto J, Devilee P, Cornelisse C, Lynch H, Narod S, Lenoir G, Egilsson V, Barkardottir RB, Easton DF, Bentley DR, Futreal PA, Ashworth A, Stratton MR. Identification of the breast cancer susceptibility gene BRCA2. Nature. 378:1995;789-792.
90. Miki Y, Katagiri T, Kasumi F, Yoshimoto T, Nakamura Y. Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet. 13:1996;245-247.
91. Teng DH, Bogden R, Mitchell J, Baumgard M, Bell R, Berry S, Davis T, Ha PC, Kehrer R, Jammulapati S, Chen Q, Offit K, Skolnick MH, Tavtigian SV, Jhanwar S, Swedlund B, Wong AK, Kamb A. Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat Genet. 13:1996;241-244.
92. Bergthorsson JT, Eiriksdottir G, Barkardottir RB, Egilsson V, Arason A, Ingvarsson S. Linkage analysis and allelic imbalance in human breast cancer kindreds using microsatellite markers from the short arm of chromosome 3. Hum Genet. 96:1995;437-443.
93. Tirkkonen M, Johannsson O, Agnarsson BA, Olsson H, Ingvarsson S, Karhu R, Tanner M, Isola J, Barkardottir RB, Borg A, Kallioniemi OP. Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations. Cancer Res. 57:1997;1222-1227.
94. Bergthorsson JT, Johannsdottir J, Jonasdottir A, Eriksdottir G, Egilsson V, Ingvarsson S, Barkardottir RB, Arason A. Chromosome imbalance at the 3p14 region in human breast tumors; High frequency in patients with inherited predisposition due to BRCA2. Eur J Cancer. 34:1998;142-147.
95. Ingvarsson S, Geirsdottir EK, Johannesdottir G, Sigbjörnsdóttir BI, Eiriksdottir G, Ragnarsson G, Agnarsson BA, Gudmundsson J, Jonasson JG, Sigurdsson A, Egilsson V, Barkardottir RB. High incidence of loss of heterozygosity in breast tumors from carriers of the 999del5 BRCA2 mutation. Cancer Res. 58:1998;4421-4425.
96. Smith SA, Easton DF, Evans DG, Ponder BA. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nat Genet. 2:1992;128-131.
97. Gudmundsson J, Johannesdottir G, Bergthorsson JT, Arason A, Ingvarsson S, Egilsson V, Barkardottir RB. Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13. Cancer Res. 55:1995;4830-4832.
98. Collins N, McManus R, Wooster R, Mangion J, Seal S, Lakhani SR, Ormiston W, Daly PA, Ford D, Easton DF, Stratton MR. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene. 10:1995;1673-1675.
99. Ahmadian M, Wistuba II, Fong KM, Behrens C, Kodagoda DR, Saboorian MH, Shay J, Tomlinson GE, Blum J, Minna JD, Gazdar AF. Analysis of the FHIT gene and FRA3B region in sporadic breast cancer, preneoplastic lesions, and familial breast cancer probands. Cancer Res. 57:1997;3664-3668.
100. Hayashi S, Tanimoto K, Hajironakanishi K, Tsuchiya E, Kurosumi M, Higashi Y, Imai K, Suga K, Nakachi K. Abnormal FHIT transcripts in human breast carcinomas - a clinicopathological and epidemiological analysis of 61 Japanese cases. Cancer Res. 57:1997;1981-1985.
101. Negrini M, Monaco C, Vorechovsky I, Ohta M, Druck T, Baffa R, Huebner K, Croce CM. The FHIT gene at 3p14.2 is abnormal in breast carcinomas. Cancer Res. 56:1996;3173-3179.
102. Siprashvili Z, Sozzi G, Barnes LD, Mccue P, Robinson AK, Eryomin V, Sard L, Tagliabue E, Greco A, Fusetti L, Schwartz G, Pierotti MA, Croce CM, Huebner K. Replacement of FHIT in cancer cells suppresses tumorigenicity. Proc Natl Acad Sci USA. 94:1997;13771-13776.
103. Ohta M, Inoue H, Cotticelli MG, Kastury K, Baffa R, Palazzo J, Siprashvili Z, Mori M, McCue P, Druck T et al. The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers. Cell. 84:1996;587-597.
104. Crook T, Crossland S, Crompton MR, Osin P, Gusterson BA. P53 mutations in BRCA1-associated familial breast cancer. Lancet. 350:1997;638-639.
105. Eiriksdottir G, Barkardottir RB, Agnarsson BA, Johannesdottir G, Olafsdottir K, Egilsson V, Ingvarsson S. High incidence of loss of heterozygosity at chromosome 17p13 in breast tumours from BRCA2 mutation carriers. Oncogene. 16:1998;21-26.
106. Ludwig T, Chapman DL, Papaioannou VE, Efstratiadis A. Targeted mutations of breast cancer susceptibility gene homologs in mice - lethal phenotypes of BRCA1, BRCA2, BRCA1/BRCA2, BRCA1/P53, and BRCA2/P53 nullizygous embryos. Genes Dev. 11:1997;1226-1241.
107. Connor F, Bertwistle D, Mee PJ, Ross GM, Swift S, Grigorieva E, Tybulewicz VLJ, Ashworth A. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Nature Genet. 17:1997;423-430.
108. Gretarsdottir S, Thorlacius S, Valgardsdottir R, Gudlaugsdottir S, Sigurdsson S, Steinarsdottir M, Jonasson JG, Anamthawatjonsson K, Eyfjord JE. BRCA2 and P53 mutations in primary breast cancer in relation to genetic instability. Cancer Res. 58:1998;859-862.
109. Scully R, Chen J, Plug A, Xiao Y, Weaver D, Feunteun J, Ashley T, Livingston DM. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell. 88:1997;265-275.
110. Sharan SK, Morimatsu M, Albrecht U, Lim DS, Regel E, Dinh C, Sands A, Eichele G, Hasty P, Bradley A. Embryonic lethality and radiation hypersensitivity mediated by rad51 in mice lacking brca2. Nature. 386:1997;804-810.
111. Patel KJ, Yu VPCC, Lee HS, Corcoran A, Thistlethwaite FC, Evans MJ, Colledge WH, Friedman LS, Ponder BAJ, Venkitaraman AR. Involvement of BRCA2 in DNA repair. Mol Cell. 1:1998;347-357.
112. Agnarsson BA, Jonasson JG, Björnsdottir IB, Barkardottir RB, Egilsson V, Sigurdsson H. Inherited BRCA2 mutation associated with high grade breast cancer. Breast Cancer Res Treat. 47:1998;121-127.
113. Munn KE, Walker RA, Varley JM. Frequent alterations of chromosome 1 in ductal carcinoma in situ of the breast. Oncogene. 10:1995;1653-1657.
114. Radford DM, Fair KL, Phillips NJ, Ritter JH, Steinbrueck T, Holt MS, Donis-Keller H. Allelotyping of ductal carcinoma in situ of the breast: deletion of loci on 8p, 13q, 16q, 17p and 17q. Cancer Res. 55:1995;3399-33405.
115. Zhuang Z, Merino MJ, Chuaqui R, Liotta LA, Emmert-Buck MR. Identical allelic loss on chromosome 11q13 in microdissected in situ and invasive human breast cancer. Cancer Res. 55:1995;467-471.
116. Munn KE, Walker RA, Menasce L, Varley JM. Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ. Br J Cancer. 74:1996;1578-1585.
117. Munn KE, Walker RA, Menasce L, Varley JM. Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast. Br J Cancer. 73:1996;636-639.
118. O'Connell P, Pekkel V, Fuqua S, Osborne CK, Allred DC. Molecular genetic studies of early breast cancer evolution. Breast Cancer Res Treat. 32:1994;5-12.
119. Lizard-Nacol S, Lidereau R, Collin F, Arnal M, Hahnel L, Roignot P, Cuisenier J, Guerrin J. Benign breast disease: absence of genetic alterations at several loci implicated in breast cancer malignancy. Cancer Res. 55:1995;4416-4419.
120. Fantl V, Richards MA, Smith R, Lammie GA, Johnstone G, Allen D, Gregory W, Peters G, Dickson C, Barnes DM. Gene amplification on chromosome band 11q13 and oestrogen receptor status in breast cancer. Eur J Cancer. 26:1990;423-429.
121. Ramachandra S, Machin L, Ashley S, Monaghan P, Gusterson BA. Immunohistochemical distribution of c-erbB-2 in in situ breast carcinoma - a detailed morphological analysis. J Pathol. 161:1990;7-14.
122. Barnes DM, Bartkova J, Camplejohn RS, Gullick WJ, Smith PJ, Millis RR. Overexpression of the c-erbB-2 oncoprotein: why does this occur more frequently in ductal carcinoma in situ than in invasive mammary carcinoma and is this of prognostic significance? Eur J Cancer. 28:1992;644-648.
123. Connell P, Pekkel V, Fuqua SAW, Osborne CK, Clark GM, Allred DC. Analysis of loss of heterozygosity in 399 premalignant breast lesions at 15 genetic loci. J Natl Cancer Inst. 90:1998;697-703.
124. Lakhani SR, Collins N, Stratton MR, Sloane JP. Atypical ductal hyperplasia of the breast: clonal proliferation with loss of heterozygosity on chromosomes 16q and 17p. J Clin Pathol. 48:1995;611-615.
125. Lakhani SR, Slack DN, Hamoudi RA, Collins N, Stratton MR, Sloane JP. Detection of allelic imbalance indicates that a proportion of mammary hyperplasia of usual type are clonal, neoplastic proliferations. Lab Invest. 74:1996;129-135.
126. Deng G, Lu Y, Zlotnikov G, Thor AD, Smith HS. Loss of heterozygosity in normal tissue adjacent to breast carcinomas. Science. 274:1996;2057-2059.
127. Radford DM, Phillips NJ, Fair KL, Ritter JH, Holt M, Donis-Keller H. Allelic loss and the progression of breast cancer. Cancer Res. 55:1995;5180.
128. Wick W, Petersen I, Schmutzler RK, Wolfarth B, Lenartz D, Bierhoff E, Hummerich J, Muller DJ, Stangl AP, Schramm J, Wiestler OD, von Deimling A. Evidence for a novel tumor suppressor gene on chromosome 15 associated with progression to a metastatic stage in breast cancer. Oncogene. 12:1996;973-978.
129. +tumor cells. Cell. 75:1993;1227-1236.
130. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 260:1993;816-819.
131. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeat sequences reveal a new mechanism for colorectal carcinogenesis. Nature. 363:1993;558-561.
132. Peltomaki P, Lothe RA, Aaltonen LA, Pylkkanen L, Nystromlahti M, Seruca R, David L, Holm R, Ryberg D, Haugen A, Brogger A, Borresen AL, De La Chapelle A. Microsatellite instability is associated with tumors that characterize the heredity non-polyposis colorectal carcinoma syndrome. Cancer Res. 53:1993;5853-5855.
133. Glebov OK, Mckenzie KE, White CA, Sukumar S. Frequent p53 gene mutations and novel alleles in familial breast cancer. Cancer Res. 54:1994;3703-3709.
134. Rhyu MG, Park WS, Meltzer SJ. Microsatellite instability occurs frequently in human gastric carcinoma. Oncogene. 9:1994;29-32.
135. Shridhar V, Siegfried J, Hunt J, Alonso M, Smith DI. Genetic instability of microsatellite sequences in many non-small-cell lung carcinomas. Cancer Res. 54:1994;2084-2087.
136. Wooster R, Cleton-Jansen AM, Collins N, Mangion J, Cornelis RS, Cooper CS, Gusterson BA, Ponder BAJ, Vondeimling A, Wiestler OD, Cornelisse CJ, Devilee P, Stratton MR. Instability of short tandem repeats (microsatellites) in human cancers. Nat Genet. 6:1994;152-156.
137. Mecklin JP, Jarvinen HJ. Tumor spectrum in cancer family syndrome (heredity non-polyposis colorectal cancer). Cancer. 68:1991;1109-1112.
138. Aldaz CM, Chen T, Sahin A, Cunningham J, Bondy M. Comparative allelotype of in situ and invasive human breast cancer: high frequency of microsatellite instability in lobular breast carcinomas. Cancer Res. 55:1995;3976-3981.
139. Karnik P, Plummer S, Casey G, Myles J, Tubbs R, Growe J, Williams BR. Microsatellite instability at a single locus (D11S988) on chromosome 11p1 5.5 as a late event in mammary tumorigenesis. Hum Mol Genet. 4:1995;1889-1894.
140. Jonsson M, Johannsson O, Borg A. Infrequent occurrence of microsatellite instability in sporadic and familial breast cancer. Eur J Cancer. 31A:1995;2330-2334.
141. Toyama T, Iwase H, Yamashita H, Iwata H, Yamashita T, Ito K, Hara Y, Suchi M, Kato T, Nakamura T, Kobayashi S. Microsatellite instability in sporadic human breast cancers. Int J Cancer. 68:1996;447-451.
142. Huiping C, Johannsdottir JT, Arason A, Olafsdottir GH, Eiriksdottir G, Egilsson V, Ingvarsson S. Replication error in human breast cancer: comparison with clinical variables and family history of cancer. Oncol Rep. 6:1999;117-122.
143. Bergthorsson JT, Egilsson V, Gudmundsson J, Arason A, Ingvarsson S. Identification of a breast tumor with microsatellite instability in a carrier of the hereditary non-polyposis colon cancer trait. Clin Genet. 47:1995;305-310.
144. Borg A, Tandon AK, Sigurdsson H, Clark GM, Ferno M, Fuqua SA, Killander D, McGuire WL. HER-2/neu amplification predicts poor survival in node-positive breast cancer. Cancer Res. 50:1990;4332-4337.
145. Paterson MC, Dietrich KD, Danyluk J, Paterson AH, Lees AW, Jamil N, Hanson J, Jenkins H, Krause BE, McBlain WA et al. Correlation between c-erbB-2 amplification and risk of recurrent disease in node-negative breast cancer. Cancer Res. 51:1991;556-567.
146. Thorlacius S, Borresen AL, Eyfjord JE. Somatic p53 mutations in human breast carcinomas in an Icelandic population: a prognostic factor. Cancer Res. 53:1993;1637-1641.
147. Falette N, Paperin MP, Treilleux I, Gratadour AC, Peloux N, Mignotte H, Tooke N, Lofman E, Inganas M, Bremond A, Ozturk M, Puisieux A. Prognostic value of p53 gene mutations in a large series of node-negative breast cancer patients. Cancer Res. 58:1998;1451-1455.
148. Bieche I, Nogues C, Rivoilan S, Khodja A, Latil A, Lidereau R. Prognostic value of loss of heterozygosity at BRCA2 in human breast carcinoma. Br J Cancer. 76:1997;1416-1418.
149. Lipponen P, Saarelainen E, Aaltomaa S, Syrjanen K. Expression of E-cadherin (E-CD) is related to other prognostic factors and survival in breast cancer. J Pathol. 174:1994;101-109.
150. Charpin C, Garcia S, Bonnier P, Martini F, Andrac L, Choux R, Lavaut MN, Allasia C. Reduced E-cadherin immunohistochemical expression in node-negative breast carcinomas correlates with 10-year survival. Am J Clin Pathol. 109:1998;431-438.