Update on familial cancer syndromes and the skin

Journal of the American Academy of Dermatology

Volumn 42, Issue 6, 2000, Pages 939-969

  Tsao, Hensin ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CANCER SUSCEPTIBILITY; FAMILIAL CANCER; GENE EXPRESSION; GENE INACTIVATION; GENE MUTATION; GENE TARGETING; GENETIC LINKAGE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SKIN CANCER; TUMOR LOCALIZATION; TUMOR SUPPRESSOR GENE;

EID: 0034090124     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1067/mjd.2000.104681     Document Type: Article

References (302)

1. Knudson A. Mutation and cancer: a statistical study. Proc Natl Acad Sci U S A 1971;68:820-3.
2. Happle R. Loss of heterozygosity in human skin. J Am Acad Dermatol 1999;41:143-61.
3. Collins FS. Positional cloning: let's not call it reverse anymore. Nature Genet 1992;1:3-6.
4. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-14.
5. Wallace MR, Marchuk DA, Anderson LB, Letcher R, Odeh HM, Saulino AM, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF 1 patients. Science 1990;249:181-6.
6. Cawthon RM, Weiss R, Xu G, Viskochil D, Culver M, Stevens J, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990;62:193-201.
7. Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, et al. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science 1992;258:1148-52.
8. Vogelstein B, Kinzler KW. The genetic basis of human cancer. New York: McGraw-Hill; 1998.
9. Strachan T, Read AP. Human molecular genetics. Oxford (UK): BIOS Scientific Publishers; 1996.
10. Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Hum Genet 1994;50:282-90.
11. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Hum Genet 1997;69:299-308.
12. Gorlin RJ. Nevoid basal cell carcinoma syndrome. Medicine 1987;66:98-110.
13. Evans DG, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 1991;64:959-61.
14. Wicking C, Berkman J, Wainwright B, Chenevix-Trench G. Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. Genomics 1994;22:505-11.
15. Gailani MR, Bale SJ, Leffell DJ, DiGiovanna JJ, Peck GL, Poliak S, et al. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992;69:111-7.
16. Farndon PA, Del Mastro RG, Evans DG, Kilpatrick MW. Location of gene for Gorlin syndrome. Lancet 1992;339:581-2.
17. Reis A, Kuster W, Linss G, Gebel E, Hamm H, Fuhrmann W, et al. Localisation of gene for the naevoid basal-cell carcinoma syndrome. Lancet 1992;339:617.
18. Goldstein AM, Stewart C, Bale AE, Bale SJ, Dean M. Localization of the gene for the nevoid basal cell carcinoma syndrome. Am J Hum Genet 1994;54:765-73.
19. Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996;272:1668-71.
20. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85:841-51.
21. Aszterbaum M, Rothman A, Johnson RL, Fisher M, Xie J, Bonifas JM, et al. Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. J Invest Dermatol 1998;110: 885-8.
22. Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, et al. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 1997;60:21-6.
23. Xie J, Johnson RL, Zhang X, Bare JW, Waldman FM, Cogen PH, et al. Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Res 1997;57:2369-72.
24. Raffel C, Jenkins RB, Frederick L, Hebrink D, Alderete B, Fults DW, et al. Sporadic medulloblastomas contain PTCH mutations. Cancer Res 1997;57:842-5.
25. Hooper JE, Scott MP. The Drosophila patched gene encodes a putative membrane protein required for segmental patterning. Cell 1989;59:751-65.
26. Stone DM, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL, et al. The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature 1996;384:129-34.
27. Xie J, Murone M, Luoh SM, Ryan A, Gu Q, Zhang C, et al. Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 1998,391:90-2.
28. Reifenberger J, Wolter M, Weber RG, Megahed M, Ruzicka T, Lichter P, et al. Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Res 1998;58:1798-803.
29. Tucker MA, Fraser MC, Goldstein AM, Elder DE, Guerry Dt, Organic SM. Risk of melanoma and other cancers in melanoma-prone families. J Invest Dermatol 1993;100(Suppl): 350S-355S.
30. Greene MH, Clark WHJ, Tucker MA, Kraemer KH, Elder DE, Fraser MC. High risk of malignant melanoma in melanoma-prone families with dysplastic nevi. Ann Intern Med 1985;102:458-65.
31. Goldstein AM, Fraser MC, Clark WHJ, Tucker MA. Age at diagnosis and transmission of invasive melanoma in 23 families with cutaneous malignant melanoma/dysplastic nevi. J Natl Cancer Inst 1994;86:1385-90.
32. Carey WP Jr, Thompson CJ, Synnestvedt M, Guerry D 4th, Halpern A, Schultz D, et al. Dysplastic nevi as a melanoma risk factor in patients with familial melanoma. Cancer 1994;74: 3118-25.
33. Bergman W, Watson P, de Jong J, Lynch HT, Fusaro RM. Systemic cancer and the FAMMM syndrome. Br J Cancer 1990;61:932-6.
34. INK4 mutations. N Engl J Med 1995;333:970-4.
35. Hille ETM, van Duijn E, Gruis NA, Rosendaal FR, Bergman W, Vandenbroucke JP. Excess cancer mortality in six Dutch pedigrees with the familial atypical multiple mole-melanoma syndrome from 1830 to 1994. J Invest Dermatol 1998;110:788-92.
36. Lynch HT, Fusaro RM, Pester J, Oosterhuis JA, Went LN, Rumke P, et al. Tumour spectrum in the FAMMM syndrome. Br J Cancer 1981;44:553-60.
37. Whelan AJ, Bartsch D, Goodfellow PJ. Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor suppressor gene. N Engl J Med 1995; 333:975-7.
38. Yarbrough WG, Aprelikova O, Pei H, Olshan AF, Liu ET. Familial tumor syndrome associated with a germline nonfunctional p16INK4a allele. J Natl Cancer Inst 1996;88:1489-91.
39. Bale SJ, Dracopoli NC, Tucker MA, Clark WH Jr, Fraser MC, Stanger BZ, et al. Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus syndrome to chromosome 1p. N Engl J Med 1989;320:1367-72.
40. van Haeringen A, Bergman W, Nelen MR, van der Kooij-Meijs E, Hendrikse I, Wijnen JT, et al. Exclusion of the dyplastic naevus syndrome (DNS) from the short arm of chromosome 1 by linkage studies in Dutch families. Genomics 1989;5:61-4.
41. Cannon-Albright LA, Goldgar DE, Wright EC, Turco A, Jost M, Meyer LJ, et al. Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome 1p36. Am J Hum Genet 1990;46:912-8.
42. Gruis NA, Bergman W, Frants RR. Locus for susceptibility to melanoma on chromosome 1p. N Engl J Med 1990;322:853-4.
43. Kefford RF, Salmon J, Shaw HM, Donald JA, McCarthy WH. Hereditary melanoma in Australia: variable association with dysplastic nevi and absence of genetic linkage to chromosome 1p. Cancer Genet Cytogenet 1991;51:45-55.
44. Nancarrow DJ, Palmer JM, Walters MK, Kerr BM, Hafner GJ, Garske L, et al. Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees. Genomics 1992;12:18-25.
45. Haluska FG, Hodi FS. Molecular genetics of familial cutaneous melanoma. J Clin Oncol 1998;16:670-82.
46. Kamb A, Gruis N, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, et al. A cell cycle regulator potentially involved in genesis of many tumor types. Science 1994;264:436-40.
47. Nobori T, Miura K, Wu DJ, Lois A, Takabayashi K, Carson DA. Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 1994;368:753-6.
48. Hussussian CJ, Struewing JP, Goldstein AM, Higgins PAT, Ally DS, Sheahan MD, et al. Germline p16 mutations in familial melanoma. Nature Genet 1994;8:15-21.
49. Gruis NA, van der Velden PA, Sandkuijl LA, Prins DE, Weaver-Feldhaus J, Kamb A, et al. Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nature Genet 1995;10:351-3.
50. Walker GJ, Hussussian CJ, Flores JF, Glendening JM, Haluska FG, Dracopoli NC, et al. Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. Hum Mol Genet 1995;4: 1845-52.
51. Hayward N, Flores J, Pollock P, Glendening JM, Lin A, Palmer J, et al. Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. Melanoma Res 1997;7(Suppl 1):S37.
52. Liu L, Lassam NJ, Slingerland JM, Bailey D, Cole D, Jenkins R, et al. Germline p16INK4A mutation and protein dysfunction in a family with inherited melanoma. Oncogene 1995;11:405-12.
53. Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis N, Ding W, et al. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet 1994;8:22-6.
54. FitzGerald MG, Harkin DP, Silva-Arrieta S, MacDonald DJ, Lucchina LC, Unsal H, et al. Prevalence of germ-line mutations in p16, p19ARF, and CDK4: analysis of a clinic-based population. Proc Natl Acad Sci U S A 1996;93:8541-5.
55. Ohta M, Nagai H, Shimizu M, Rasio D, Berd D, Mastrangelo M, et al. Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma. Cancer Res 1994;54:5269-72.
56. Borg A, Johansson U, Johannsson O, Hakansson S, Westerdahl J, Masback A, et al. Novel germline p16 mutation in familial malignant melanoma in southern Sweden. Cancer Res 1996; 56:2497-500.
57. Platz A, Hansson J, Mansson-Brahme E, Lagerlof B, Linder S, Lundqvist E, et al. Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. J Natl Cancer Inst 1997;89:697-702.
58. Holland EA, Becker TM, Kefford RF, Mann GJ. Mutation analysis of CDKN2A and CDK4 in familial melanoma. Melanoma Res 1997;7(Suppl 1):S133.
59. Serrano M, Hannon GJ, Beach D. A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK 4. Nature 1993;366:704-7.
60. Zhang Y, Xiong Y, Yarbrough WG. ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell 1998;92:725-34.
61. Pomerantz J, Schreiber-Agus N, Liegeois NJ, Silverman A, Alland L, Chin L, et al. The Ink4a tumor suppressor gene product, p19Arf, interacts with MDM2 and neutralizes MDM2's inhibition of p53. Cell 1998;92:713-23.
62. INK4a binding domain of CDK4 in familial melanoma. Nature Genet 1996;12:97-9.
63. INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. Science 1995;269:1281-4.
64. Tsao H, Benoit E, Sober AJ, Thiele C, Haluska FG. Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 (CDK4) gene. Cancer Res 1997;58:109-13.
65. Friend SH, Bernards HR, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, et al. A human DNA segment that predisposes to retinoblastoma and osteosarcoma. Nature 1986;323:643-6.
66. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson C, Kim DH, et al. Germline p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1991;250:1233-8.
67. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum:cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241-50.
68. Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JHJ. Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In: Vogelstein BV, Kinzler K, editors. The genetic basis of human cancer. New York: McGraw-Hill; 1998, p. 245-74.
69. Kraemer KH, Lee MM, Andrews AD, Lambert WC. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Arch Dermatol 1994;130:1018-21.
70. Kraemer KH, Lee MM, Scotto J. DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum. Carcinogenesis 1984;5:511-4.
71. Vivian AJ, Ellison DW, McGill JI. Ocular melanomas in xeroderma pigmentosum. Br J Ophthalmol 1993;77:597-8.
72. Mamada A, Miura K, Tsunoda K, Hirose I, Furuya M, Kondo S. Xeroderma pigmentosum variant associated with multiple skin cancers and a lung cancer. Dermatology 1992;184:177-81.
73. Swift M, Chase C. Cancer in families with xeroderma pigmentosum. J Natl Cancer Inst 1979;62:1415-21.
74. Aboussekhra A, Biggerstaff M, Shivji MK, Vilpo JA, Moncollin V, Podust VN, et al. Mammalian DNA nucleotide excision repair reconstituted with purified protein components. Cell 1995;80:859-68.
75. de Vries A, van Oostrom CT, Hofhuis FM, Dortant PM, Berg RJ, de Gruijl FR, et al. Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 1995;377:169-73.
76. Nakane H, Takeuchi S, Yuba S, Saijo M, Nakatsu Y, Murai H, et al. High incidence of ultraviolet-B or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene. Nature 1995;377:165-8.
77. Sands AT, Abuin A, Sanchez A, Conti CJ, Bradley A. High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC. Nature 1995;377:162-5.
78. Williams C, Ponten F, Ahmadian A, Ren ZP, Ling G, Rollman O, et al. Clones of normal keratinocytes and a variety of simultaneously present epidermal neoplastic lesions contain a multitude of p53 gene mutations in a xeroderma pigmentosum patient. Cancer Res 1998;58:2449-55.
79. Giglia G, Dumaz N, Drougard C, Avril MF, Daya-Grosjean L, Sarasin A. p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C. Cancer Res 1998;58:4402-9.
80. Daya-Grosjean L, Robert C, Drougard C, Suarez H, Sarasin A. High mutation frequency in ras genes of skin tumors isolated from DNA repair deficient xeroderma pigmentosum patients. Cancer Res 1993;53:1625-9.
81. Starink TM. Cowden's disease: analysis of fourteen new cases. J Am Acad Dermatol 1984;11:1127-41.
82. Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986;29:222-33.
83. Mallory SB, Stough DB. Genodermatoses with malignant potential. Dermatol Clin 1987;5:221-30.
84. Greene SL, Thomas JR, Doyle JA. Cowden's disease with associated malignant melanoma. Int J Dermatol 1984;23:466-7.
85. Camisa C, Bikowski JB, McDonald SG. Cowden's disease: association with squamous cell carcinoma of the tongue and perianal basal cell carcinoma. Arch Dermatol 1984;120:677-8.
86. O'Hare AM, Cooper PH, Parlette HL. Trichilemmomal carcinoma in a patient with Cowden's disease (multiple hamartoma syndrome). J Am Acad Dermatol 1997;36:1021-3.
87. Haibach H, Burns TW, Carlson HE, Burman KD, Deftos LJ. Multiple hamartoma syndrome (Cowden's disease) associated with renal cell carcinoma and primary neuroendocrine carcinoma of the skin (Merkel cell carcinoma). Am J Clin Pathol 1992;97:705-12.
88. Nuss DD, Aeling JL, Clemons DE, Weber WN. Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol 1978;114: 743-6.
89. Eng C, Parsons R. Cowden syndrome. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGraw-Hill; 1998.p.519-25.
90. Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC. Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol 1991;29:517-23.
91. Koch R, Scholz M, Nelen MR, Schwechheimer K, Epplen JT, Harders AG. Lhermitte-Duclos disease as a component of Cowden's syndrome: case report and review of the literature. J Neurosurg 1999;90:776-9.
92. Fargnoli MC, Orlow SJ, Semel-Concepcion J, Bolognia JL. Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. Arch Dermatol 1996;132:1214-8.
93. Higginbottom MC, Schultz P. The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors. Pediatrics 1982;69:632-4.
94. Zonana J, Rimoin DL, Davis DC. Macrocephaly with multiple lipomas and hemangiomas. J Pediatr 1976;89:600-3.
95. Heiss KF, Schaffner D, Ricketts RR, Winn K. Malignant risk in juvenile polyposis coli: increasing documentation in the pediatric age group. J Pediatr Surg 1993;28:1188-93.
96. Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis: a precancerous condition. Histopathology 1988;13:619-30.
97. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genet 1996;13:114-6.
98. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, et al. PTEN, a putative tyrosine phosphatase gene mutated in human brain, breast and prostate cancer. Science 1997;275:1943-7.
99. Steck PA, Pershouse MA, Jasser SA, Yung WKA, Lin H, Ligon AH, et al. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genet 1997;15:356-62.
100. Wang SI, Puc J, Li J, Bruce JN, Cairns P, Sidransky D, et al. Somatic mutations of PTEN in glioblastoma multiforme. Cancer Res 1997;57:4183-6.
101. Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genet 1997;16:64-7.
102. Risinger JI, Hayes AK, Berchuck A, Barrett JC. PTEN/MMAC1 mutations in endometrial cancers. Cancer Res 1997;57:4736-8.
103. Wang SI, Parsons R, Ittmann M. Homozygous deletion of the PTEN tumor suppressor gene in a subset of prostate adenocarcinomas. Clin Cancer Res 1998;4:811-5.
104. Whang YE, Wu X, Suzuki H, Reiter RE, Tran C, Vessella RL, et al. Inactivation of the tumor suppressor PTEN/MMAC1 in advanced human prostate cancer through loss of expression. Proc Natl Acad Sci U S A 1998;28:5246-50.
105. Obata K, Morland SJ, Watson RH, Hitchcock A, Chenevix-Trench G, Thomas EJ, et al. Frequent PTEN/MMAC mutations in endometrioid but not serous or mucinous epithelial ovarian tumors. Cancer Res 1998;58:2095-7.
106. Tsao H, Zhang X, Benoit E, Haluska FG. Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines. Oncogene 1998;16:3397-402.
107. Guldberg P, thor Straten P, Birck A, Ahrenkiel V, Kirkin AF, Zeuthen J. Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma. Cancer Res 1997;57:3660-3.
108. Marsh DJ, Dahia LM, Zheng Z, Liaw D, Parsons R, Gorlin RJ, et al. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nature Genet 1997;16:333-4.
109. Tok Celebi J, Chen FF, Zhang H, Ping XL, Tsou HC, Peacocke M. Identification of PTEN mutations in five families with Bannayan-Zonana syndrome. Exp Dermatol 1999;8:134-9.
110. Olschwang S, Serova-Sinilnikova OM, Lenoir GM, Thomas G. PTEN germ-line mutations in juvenile polyposis coli. Nature Genet 1998;18:12-4.
111. Li D, Sun H. TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor β. Cancer Res 1997;57:2124-9.
112. Myers MP, Pass I, Batty IH, Van der Kaay J, Stolarov JP, Hemmings BA, et al. The lipid phosphatase activity of PTEN is critical for its tumor suppressor function. Proc Natl Acad Sci U S A 1998;95:13513-8.
113. Maehama T, Dixon JE. The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate. J Biol Chem 1998;273:13375-8.
114. Di Cristofano A, Pesce B, Cordon-Cardo C, Pandolfi PP. Pten is essential for embryonic development and tumour suppression. Nature Genet 1998;19:348-55.
115. Podsypanina K, Ellenson LH, Nemes A, Gu J, Tamura M, Yamada KM, et al. Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systems. Proc Natl Acad Sci U S A 1999;96:1563-8.
116. Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, et al. Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell 1998;95:29-39.
117. Leppard B, Bussey HJ. Epidermoid cysts, polyposis coli and Gardner's syndrome. Br J Surg 1975;62:387-93.
118. Pujol RM, Casanova JM, Egido R, Pujol J, de Moragas JM. Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome? Pediatr Dermatol 1995;12:331-5.
119. Traboulsi El, Krush AJ, Gardner EJ, Booker SV, Offerhaus GJ, Yardley JH, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med 1987;316:661-7.
120. Hizawa K, Iida M, Mibu R, Aoyagi K, Yao T, Fujishima M. Desmoid tumors in familial adenomatous polyposis/Gardner's syndrome. J Clin Gastroenterol. 1997;25:334-7.
121. Jarvinen HJ, Peltokallio P, Landtman M, Wolf J. Gardner's stigmas in patients with familial adenomatosis coli. Br J Surg 1982;69:718-21.
122. Naylor EW, Gardner EJ. Penetrance and expressivity of the gene responsible for the Gardner syndrome. Clin Genet 1977;11:381-93.
123. MacDonald JM, Davis WC, Crago HR, Berk AD. Gardner's syndrome and periampullary malignancy. Am J Surg 1967;113: 425-30.
124. Pauli RM, Pauli ME, Hall JG. Gardner syndrome and periampullary malignancy. Am J Med Genet 1960;6:205-19.
125. Camiel MR, Mule JE, Alexander LL, Benninghoff DL. Thyroid carcinoma with Gardner's syndrome. N Engl J Med 1968;279:326.
126. Keshgegian AA, Enterline HT. Gardner's syndrome with duodenal adenomas, gastric adenomyoma and thyroid papillary - follicular adenocarcinoma. Dis Colon Rectum 1978;21: 255-60.
127. Naylor EW, Gardner EJ. Adrenal adenomas in a patient with Gardner's syndrome. Clin Genet 1981;20:67-73.
128. Marshall WH, Martin FI, Mackay IR. Gardner's syndrome with adrenal carcinoma. Australas Ann Med 1967;16:242-4.
129. Krush AJ, Traboulsi EI, Offerhaus JA, Maumenee IH, Yardley JH, Levin LS. Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. Am J Med Genet 1988;29:323-32.
130. Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg AA. Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet 1986;25:473-6.
131. Bodmer WF, Bailey CJ, Bodmer J, Bussey HJ, Ellis A, Gorman P, et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987;328:614-6.
132. Leppert M, Dobbs M, Scambler P, O'Connell P, Nakamura Y, Stauffer D, et al. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 1987;238:1411-3.
133. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
134. Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell. 1993;75:959-68.
135. Wallis YL, Macdonald F, Hulten M, Morton JE, McKeown CM, Neoptolemos JP, et al. Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis. Hum Genet 1994;94:543-8.
136. Davies DR, Armstrong JG, Thakker N, Horner K, Guy SP, Clancy T, et al. Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am J Hum Genet 1995;57:1151-8.
137. Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Boker T, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995;4:337-40.
138. Giardiello FM, Krush AJ, Petersen GM, Booker SV, Kerr M, Tong LL, et al. Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology 1994;106:1542-7.
139. Smits R, van der Houven van Oordt W, Luz A, Zurcher C, Jagmohan-Changur S, Breukel C, et al. Apc1638N: a mouse model for familial adenomatous polyposis-associated desmoid tumors and cutaneous cysts. Gastroenterology 1998; 114:275-83.
140. Berx G, Becker KF, Hofler H, van Roy F. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 1998;12:226-37.
141. Gumbiner BM. Signal transduction of beta-catenin. Curr Opin Cell Biol 1995;7:634-40.
142. Cohen PR, Kohn SR, Kurzrock R. Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. Am J Med 1991;90:606-13.
143. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.
144. Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997;89:1758-62.
145. Peltomaki P, Aaltonen LA, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993;260:810-2.
146. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027-38.
147. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993;75:1215-25.
148. Hall NR, Murday VA, Chapman P, Williams MA, Burn J, Finan PJ, et al. Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. Eur J Cancer 1994;30A:180-2.
149. Kolodner RD, Hall NR, Lipford J, Kane MF, Rao MR, Morrison P, et al. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics 1994;24:516-26.
150. Kruse R, Rutten A, Lamberti C, Hosseiny-Malayeri HR, Wang Y, Ruelfs C, et al. Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 1998;63:63-70.
151. Strand M, Prolla TA, Liskay RM, Petes TD. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 1993;365:274-6.
152. Honchel R, Halling KC, Schaid DJ, Pittelkow M, Thibodeau SN. Microsatellite instability in Muir-Torre syndrome. Cancer Res 1994;54:1159-63.
153. Hailing KC, Honchel R, Pittelkow MR, Thibodeau SN. Microsatellite instability in keratoacanthoma. Cancer 1995;76: 1765-71.
154. Peris K, Onorati MT, Keller G, Magrini F, Donati P, Muscardin L, et al. Widespread microsatellite instability in sebaceous tumours of patients with the Muir-Torre syndrome. Br J Dermatol 1997;137:356-60.
155. Darling TN, Skarulis MC, Steinberg SM, Marx SJ, Spiegel AM, Turner M. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol 1997;133:853-7.
156. Soga J, Yakuwa Y. Glucagonomas/diabetico-dermatogenic syndrome (DDS): a statistical evaluation of 407 reported cases. J Hepatobiliary Pancreat Surg 1998;5:312-9.
157. Skogseid B, Eriksson B, Lundqvist G, Lorelius LE, Rastad J, Wide L, et al. Multiple endocrine neoplasia type 1: a 10-year prospective screening study in four kindreds. J Clin Endocrinol Metab 1991;73:281-7.
158. Marx SJ. Multiple endocrine neoplasia 1. In: Vogelstein B, Kinzler K, editors. The genetic basis of human cancer. New York: McGraw-Hill; 1998. p. 489-506.
159. Scheithauer BW, Laws ER Jr, Kovacs K, Horvath E, Randall RV, Carney JA. Pituitary adenomas of the multiple endocrine neoplasia type I syndrome. Semin Diagn Pathol 1987;4:205-11.
160. Galbut DL, Markowitz AM. Insulinoma: diagnosis, surgical management and long-term follow-up: review of 41 cases. Am J Surg 1980;139:682-90.
161. Duh QY, Hybarger CP, Geist R, Gamsu G, Goodman PC, Gooding GA, et al. Carcinoids associated with multiple endocrine neoplasia syndromes. Am J Surg 1987;154:142-8.
162. Larsson C, Skogseid B, Oberg K, Nakamura Y, Nordenskjold M. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 1988;332:85-7.
163. Smith CM, Wells SA, Gerhard DS. Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine neoplasia type 1:identification of a new distal recombinant. Hum Genet 1995;96:377-87.
164. Courseaux A, Grosgeorge J, Gaudray P, Pannett AA, Forbes SA, Williamson C, et al. Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. Genomics 1996;37:345-53.
165. Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997; 276:404-7.
166. Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, et al. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet 1997;6:1169-75.
167. Pack S, Turner ML, Zhuang Z, Vortmeyer AO, Boni R, Skarulis M, et al. Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene. J Invest Dermatol 1998;110:438-40.
168. Bugalho MJ, Limbert E, Sobrinho LG, Clode AL, Soares J, Nunes JF, et al. A kindred with multiple endocrine neoplasia type 2A associated with pruritic skin lesions. Cancer 1992;70:2664-7.
169. Nunziata V, Giannattasio R, Di Giovanni G, D'Armiento MR, Mancini M. Hereditary localized pruritus in affected members of a kindred with multiple endocrine neoplasia type 2A (Sipple's syndrome). Clin Endocrinol 1989;30:57-63.
170. Kousseff BG, Espinoza C, Zamore GA. Sipple syndrome with lichen amyloidosis as a paracrinopathy: pleiotropy, heterogeneity, or a contiguous gene? J Am Acad Dermatol 1991;25:651-7.
171. Khairi MR, Dexter RN, Burzynski NJ, Johnston CCJ. Mucosal neuroma, pheochromocytoma and medullary thyroid carcinoma: multiple endocrine neoplasia type 3. Medicine 1975;54: 89-112.
172. Fryns JP, Chrzanowska K. Mucosal neuromata syndrome (MEN type IIb (III). J Med Genet 1988;25:703-6.
173. Dyck PJ, Carney JA, Sizemore GW, Okazaki H, Brimijoin WS, Lambert EH. Multiple endocrine neoplasia, type 2b: phenotype recognition; neurological features and their pathological basis. Ann Neurol 1979;6:302-14.
174. Ponder BAJ. Multiple endocrine neoplasia type 2. In: Vogelstein BV, Kinzler K, editors. The genetic basis of human cancer. New York: McGraw-Hill; 1998. p. 475-87.
175. Saad MF, Ordonez NG, Rashid RK, Guido JJ, Hill CSJ, Hickey RC, et al. Medullary carcinoma of the thyroid: a study of the clinical features and prognostic factors in 161 patients. Medicine 1984;63:319-42.
176. van Heerden JA, Kent RB 3d, Sizemore GW, Grant CS, ReMine WH. Primary hyperparathyroidism in patients with multiple endocrine neoplasia syndromes: surgical experience. Arch Surg 1983;118:533-6.
177. Carney JA, Go VL, Sizemore GW, Hayles AB. Alimentary-tract ganglioneuromatosis: a major component of the syndrome of multiple endocrine neoplasia, type 2b. N Engl J Med 1976;295: 1287-91.
178. Wu JS, Carson NL, Myers S, Pakstis AJ, Kidd JR, Castiglione CM, et al. The genetic defect in multiple endocrine neoplasia type 2A maps next to the centromere of chromosome 10. Am J Hum Genet 1990;46:624-30.
179. Mathew CG, Wakeling W, Jones E, Easton D, Fisher R, Strong C, et al. Regional localization of polymorphic markers on chromosome 10 by physical and genetic mapping. Ann Hum Genet 1990;54:121-9.
180. Goodfellow PJ, Myers S, Anderson LL, Brooks-Wilson AR, Simpson NE. A new DNA marker (D10S94) very tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus. Am J Hum Genet 1990;47:952-6.
181. Ishizaka Y, Itoh F, Tahira T, Ikeda I, Sugimura T, Tucker J, et al. Human ret proto-oncogene mapped to chromosome 10q11.2. Oncogene 1989;4:1519-21.
182. Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993;363:458-60.
183. Hofstra RM, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994;367:375-6.
184. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol
185. Jing S, Wen D, Yu Y, Holst PL, Luo Y, Fang M, et al. GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF. Cell 1996;85:1113-24.
186. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367:378-80.
187. Burwell RG, James NJ, Johnston DI. Cafe-au-lait spots in schoolchildren. Arch Dis Child 1982;57:631-2.
188. Riccardi VM, Powell PP. Neurofibrosarcoma as a complication of von Recklinghausen neurofibromatosis. Neurofibromatosis 1989;2:152-65.
189. Listernick R, Charrow J, Greenwald MJ, Esterly NB. Optic gliomas in children with neurofibromatosis type 1. J Pediatr 1989;114:788-92.
190. Listernick R, Darling C, Greenwald M, Strauss L, Charrow J. Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history. J Pediatr 1995;127:718-22.
191. Blatt J, Jaffe R, Deutsch M, Adkins JC. Neurofibromatosis and childhood tumors. Cancer 1986;57:1225-9.
192. Kibirige MS, Birch JM, Campbell RH, Gattamaneni HR, Blair V. A review of astrocytoma in childhood. Pediatr Hematol Oncol 1989;6:319-29.
193. Morier P, Merot Y, Paccaud D, Beck D, Frenk E. Juvenile chronic granulocytic leukemia, juvenile xanthogranulomas, and neurofibromatosis: case report and review of the literature. J Am Acad Dermatol 1990;22:962-5.
194. Stiller CA, Chessells JM, Fitchett M. Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCC-SG study. Br J Cancer 1994;70:969-72.
195. Diehl SR, Boehnke M, Erickson RP, Baxter AB, Bruce MA, Lieberman JL, et al. Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17. Genomics 1987;1:361-3.
196. Seizinger BR, Rouleau GA, Lane AH, Farmer G, Ozelius LJ, Haines JL, et al. Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17. Genomics 1987;1:346-8.
197. Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Faryniarz AG, Chao MV, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987;49:589-94.
198. Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon AG, Gusella JF, et al. Physical mapping of a translocation breakpoint in neurofibromatosis. Science 1989;244:1085-7.
199. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RM, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990;62:187-92.
200. Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991;11:931-40.
201. Xu GF, Lin B, Tanaka K, Dunn D, Wood D, Gesteland R, et al. The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell 1990;63:835-41.
202. Gregory PE, Gutmann DH, Mitchell A, Park S, Boguski M, Jacks T, et al. Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules. Somat Cell Mol Genet 1993;19:265-74.
203. Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nature Genet 1994;7:353-61.
204. Largaespada DA, Brannan CI, Jenkins NA, Copeland NG. Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. Nature Genet 1996;12:137-43.
205. Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 1994;52:450-61.
206. Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, et al. A clinical study of type 2 neurofibromatosis. Q J Med 1992; 84:603-18.
207. Mautner VF, Lindenau M, Baser ME, Kluwe L, Gottschalk J. Skin abnormalities in neurofibromatosis 2. Arch Dermatol 1997; 133:1539-43.
208. McKusick VA. Mendelian inheritance in man: catalogs of human genes and genetic disorders. 11th ed. Baltimore and London: Johns Hopkins University Press; 1994.
209. Bouzas EA, Freidlin V, Parry DM, Eldridge R, Kaiser-Kupfer MI. Lens opacities in neurofibromatosis 2: further significant correlations. Br J Ophthalmol 1993;77:354-7.
210. Mautner VF, Tatagiba M, Lindenau M, Funsterer C, Pulst SM, Baser ME, et al. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR Am J Roentgenol 1995;165:951-5.
211. Argenyi ZB, Thieberg MD, Hayes CM, Whitaker DC. Primary cutaneous meningioma associated with von Recklinghausen's disease. J Cutan Pathol 1994;21:549-56.
212. Seizinger BR, Martuza RL, Gusella JF. Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 1986;322:644-7.
213. Bijlsma EK, Brouwer-Mladin R, Bosch DA, Westerveld A, Hulsebos TJ. Molecular characterization of chromosome 22 deletions in schwannomas. Genes Chromosom Cancer 1992;5: 201-5.
214. Tommerup N, Warburg M, Gieselmann V, Hansen BR, Koch J, Petersen GB. Ring chromosome 22 and neurofibromatosis. Clin Genet 1992;42:171-7.
215. Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987;329:246-8.
216. Rouleau GA, Mere P, Lutchman M, Sanson M, Zucman J, Marineau C, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 1993;363:515-21.
217. Scoles DR, Huynh DP, Morcos PA, Coulsell ER, Robinson NG, Tamanoi F, et al. Neurofibromatosis 2 tumour suppressor schwannomin interacts with betall-spectrin. Nature Genet 1998;18:354-9.
218. McClatchey AI, Saotome I, Mercer K, Crowley D, Gusella JF, Bronson RT, et al. Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev 1998;12:1121-33.
219. Gomez MR. Tuberous sclerosis. 2nd ed. New York: Raven Press; 1988.
220. Fitzpatrick TB, Szabo G, Hori Y, Simone AA, Reed WB, Greenberg MH. White leaf-shaped macules: earliest visible sign of tuberous sclerosis. Arch Dermatol 1968;98:1-6.
221. Jozwiak S, Schwartz RA, Janniger CK, Michalowicz R, Chmielik J. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. Int J Dermatol 1998;37:911-7.
222. Webb DW, Clarke A, Fryer A, Osborne JP. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol 1996;135:1-5.
223. Sampson JR, Attwood D, al Mughery AS, Reid JS. Pitted enamel hypoplasia in tuberous sclerosis. Clin Genet 1992;42:50-2.
224. Harding CO, Pagon RA. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 1990; 37:443-6.
225. O'Callaghan FJ, Clarke AC, Joffe H, Keeton B, Martin R, Salmon A, et al. Tuberous sclerosis complex and Wolff-Parkinson-White syndrome. Arch Dis Child 1998;78:159-62.
226. Neumann HP, Schwarzkopf G, Henske EP. Renal angiomyolipomas, cysts, and cancer in tuberous sclerosis complex. Semin Pediatr Neurol 1998;5:269-75.
227. Cook JA, Oliver K, Mueller RF, Sampson J. A cross sectional study of renal involvement in tuberous sclerosis. J Med Genet 1996;33:480-4.
228. Al-Saleem T, Wessner LL, Scheithauer BW, Patterson K, Roach ES, Dreyer SJ, et al. Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex. Cancer 1998;83:2208-16.
229. Grether P, Carnevale A, Pasquel P. Wilms' tumor in an infant with tuberous sclerosis. Ann Genet 1987;30:183-5.
230. Verhoef S, van Diemen-Steenvoorde R, Akkersdijk WL, Bax NM, Ariyurek Y, Hermans CJ, et al. Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood. Eur J Pediatr 1999;158:284-7.
231. Mortensen LS, Rungby J. Tuberous sclerosis and parathyroid adenoma. J Clin Pathol 1991;44:961-2.
232. Fryer AE, Chalmers A, Connor JM, Fraser I, Povey S, Yates AD, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987;1:659-61.
233. Povey S, Burley MW, Attwood J, Benham F, Hunt D, Jeremiah SJ, et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet 1994;58:107-27.
234. Consortium ETS. Identification and characterization of the tuberous sclerosis gene on chromosome 16: the European Chromosome 16 Tuberous Sclerosis Consortium. Cell 1993;75:1305-15.
235. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277:805-8.
236. Ali JB, Sepp T, Ward S, Green AJ, Yates JR. Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. J Med Genet 1998;35:969-72.
237. van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, et al. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. J Med Genet 1999;36:285-9.
238. Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, et al. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999;64:1305-15.
239. Wienecke R, Konig A, DeClue JE. Identification of tuberin, the tuberous sclerosis-2 product: tuberin possesses specific Rap1GAP activity. J Biol Chem 1995;270:16409-14.
240. Plank TL, Yeung RS, Henske EP. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Res 1998;58:4766-70.
241. Cohen LE, Tanner DJ, Schaefer HG, Levis WR. Common and uncommon cutaneous findings in patients with ataxia-telangiectasia. J Am Acad Dermatol 1984;10:431-8.
242. Gatti RA. Ataxia telangiectasia. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGraw-Hill; 1998. p. 275-300.
243. Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 1986;77:89-92.
244. Taylor AM, Metcalfe JA, Thick J, Mak YF. Leukemia and lymphoma in ataxia telangiectasia. Blood 1996;87:423-38.
245. Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991;325:1831-6.
246. Borresen AL, Andersen TI, Tretli S, Heiberg A, Moller P. Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia. Genes Chromosom Cancer 1990;2:339-40.
247. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 1987;316:1289-94.
248. FitzGerald MG, Bean JM, Hegde SR, Unsal H, MacDonald DJ, Harkin DP, et al. Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 1997;15:307-10.
249. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988;336:577-80.
250. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-53.
251. Khanna KK, Keating KE, Kozlov S, Scott S, Gatei M, Hobson K, et al. ATM associates with and phosphorylates p53: mapping the region of interaction. Nat Genet 1998;20:398-400.
252. Banin S, Moyal L, Shieh S, Taya Y, Anderson CW, Chessa L, et al. Enhanced phosphorylation of p53 by ATM in response to DNA damage. Science 1998;281:1674-7.
253. Taylor AM, Harnden DG, Arlett CF, Harcourt SA, Lehmann AR, Stevens S, et al. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 1975;258:427-9.
254. German J, Ellis NA. Bloom syndrome. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGraw-Hill; 1998. p. 301-15.
255. German J, Roe AM, Leppert MF, Ellis NA. Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. Proc Natl Acad Sci U S A 1994;91:6669-73.
256. Ellis NA, Roe AM, Kozloski J, Proytcheva M, Falk C, German J. Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. Am J Hum Genet 1994;55:453-60.
257. Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995;83:655-66.
258. Bahr A, De Graeve F, Kedinger C, Chatton B. Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. Oncogene 1998;17:2565-71.
259. Neff NF, Ellis NA, Ye TZ, Noonan J, Huang K, Sanz M, et al. The DNA helicase activity of BLM is necessary for the correction of the genomic instability of Bloom syndrome cells. Mol Biol Cell 1999;10:665-76.
260. Kemmett D, Ellis J, Spencer MJ, Hunter JA. The Laugier-Hunziker syndrome: a clinical review of six cases. Clin Exp Dermatol 1990;15:111-4.
261. Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 1975;136:71-82.
262. Spigelman AD, Murday V, Phillips RK. Cancer and the Peutz-Jeghers syndrome. Gut 1989;30:1588-90.
263. Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998;128:896-9.
264. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987;316:1511-4.
265. Hemminki A, Tomlinson I, Markie D, Jarvinen H, Sistonen P, Bjorkqvist AM, et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 1997;15:87-90.
266. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998;18:38-43.
267. Westerman AM, Entius MM, de Baar E, Boor PP, Koole R, van Velthuysen ML, et al. Peutz-Jeghers syndrome: 78-year follow-up of the original family. Lancet 1999;353:1211-5.
268. Nakagawa H, Koyama K, Miyoshi Y, Ando H, Baba S, Watatani M, et al. Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. Hum Genet 1998;103:168-72.
269. Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, et al. Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet 1999;8:45-51.
270. Wang ZJ, Churchman M, Avizienyte E, McKeown C, Davies S, Evans DG, et al. Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients. J Med Genet 1999;36:365-8.
271. Tiainen M, Ylikorkala A, Makela TP. Growth suppression by Lkb1 is mediated by a G(1) cell cycle arrest. Proc Natl Acad Sci U S A 1999;96:9248-51.
272. Atherton DJ, Pitcher DW, Wells RS, MacDonald DM. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br J Dermatol 1980;103:421-9.
273. Stratakis CA, Carney JA, Lin JP, Papanicolaou DA, Karl M, Kastner DL, et al. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. J Clin Invest 1996;97:699-705.
274. Shenoy BV, Carpenter PC, Carney JA. Bilateral primary pigmented nodular adrenocortical disease: rare cause of the Cushing syndrome. Am J Surg Pathol 1984;8:335-44.
275. Carney JA, Headington JT, Su WPD. Cutaneous myxomas: a major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Arch Dermatol 1986; 122:790-8.
276. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VLW. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine 1985;64:270-83.
277. Stratakis CA, Courcoutsakis NA, Abati A, Filie A, Doppman JL, Carney JA, et al. Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex). J Clin Endocrinol Metab. 1997;82:2037-43.
278. Utiger CA, Headington JT. Psammomatous melanotic schwannoma: a new cutaneous marker for Carney's complex. Arch Dermatol 1993;129:202-4.
279. Carney JA. Psammomatous melanotic schwannoma: a distinctive, heritable tumor with special associations, including cardiac myxoma and Cushing syndrome. Am J Surg Pathol 1990;14:206-22.
280. Basson CT, MacRae CA, Korf B, Merliss A. Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex). Am J Cardiol 1997;79:994-5.
281. Casey M, Mah C, Merliss AD, Kirschner LS, Taymans SE, Denio AE, et al. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 1998;98:2560-6.
282. Drouin CA, Mongrain E, Sasseville D, Bouchard HL, Drouin M. Rothmund-Thomson syndrome with osteosarcoma. J Am Acad Dermatol 1993;28:301-5.
283. Starr DG, McClure JP, Connor JM. Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. Clin Genet 1985;27:102-4.
284. Ying KL, Oizumi J, Curry CJR. Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. J Med Genet 1990;27: 258-60.
285. Lindor NM, Devries EMG, Michels VV, Schad CR, Jalal SM, Donovan KM, et al. Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. Clin Genet 1996;49: 124-9.
286. Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999;22:82-4.
287. Sternberg N, Golan J, Sternberg I, Ben-Hur N. Werner's syndrome as a cause of chronic leg ulcers. J Dermatol Surg Oncol 1982;8:293-5.
288. Reed R, Seville RH, Tattersall RN. Werner's syndrome. Br J Dermatol 1953;65:165-76.
289. Murata K, Nakashima H. Werner's syndrome: twenty-four cases with a review of the Japanese medical literature. J Am Geriatr Soc 1982;30:303-8.
290. Epstein CJ, Martin GM, Schultz AL, Motulsky AG. Werner's syndrome: a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine 1966;45:177-221.
291. Goto M, Horiuchi Y, Tanimoto K, Ishii T, Nakashima H. Werner's syndrome: analysis of 15 cases with a review of the Japanese literature. J Am Geriatr Soc 1978;26:341-7.
292. Goto M, Tanimoto K, Horiuchi Y, Sasazuki T. Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet 1981;19:8-15.
293. Nakura J, Wijsman EM, Miki T, Kamino K, Yu CE, Oshima J, et al. Homozygosity mapping of the Werner syndrome locus (WRN). Genomics 1994;23:600-8.
294. Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, et al. Positional cloning of the Werner's syndrome gene. Science 1996;272:258-62.
295. Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, et al. The Werner syndrome protein is a DNA helicase. Nat Genet 1997;17:100-3.
296. Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR. Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet 1994;7:189-94.
297. Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 1992;71:939-53.
298. Spillare EA, Robles AI, Wang XW, Shen JC, Yu CE, Schellenberg GD, et al. p53-mediated apoptosis is attenuated in Werner syndrome cells. Genes Devel 1999;13:1355-60.
299. Kinzler KW, Vogelstein B. Familial cancer syndromes: the role of caretakers and gatekeepers. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGraw-Hill; 1998. p. 241-2.
300. Korge BP, Krieg T. The molecular basis for inherited bullous diseases. J Mol Med 1996;74:59-70.
301. Lindor NM, Greene MH. The concise handbook of family cancer syndromes: Mayo Familial Cancer Program. J Natl Cancer Inst 1998;90:1039-71.
302. National Institutes of Health Consensus Development Conference. Neurofibromatosis. Conference statement. Arch Neurol 1988;45:575-8.