Genodermatoses with Cutaneous Tumors and Internal Malignancies

Dermatologic Clinics

Volumn 26, Issue 1, 2008, Pages 69-87

  Somoano, Brian ^a   Tsao, Hensin ^b  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BASAL CELL NEVUS SYNDROME; BIRT HOGG DUBE SYNDROME; CANCER SUSCEPTIBILITY; CHROMOSOME 10Q; CHROMOSOME 16P; CHROMOSOME 17P; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME 2P; CHROMOSOME 5Q; CHROMOSOME 9P; CHROMOSOME 9Q; CLINICAL FEATURE; COWDEN SYNDROME; DISEASE ASSOCIATION; GARDNER SYNDROME; GENE TECHNOLOGY; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENODERMATOSIS; HUMAN; LEIOMYOMATOSIS; MALIGNANT NEOPLASTIC DISEASE; MEDICAL EDUCATION; MELANOMA; MOLECULAR GENETICS; MORBIDITY; MUIR TORRE SYNDROME; NEUROFIBROMATOSIS; ODONTOGENIC KERATOCYST; PATHOGENICITY; PRIORITY JOURNAL; REVIEW; SKIN CANCER; SKIN TUMOR; TUBEROUS SCLEROSIS; XERODERMA PIGMENTOSUM;

HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY; SKIN NEOPLASMS;

EID: 36048970767     PISSN: 07338635     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.det.2007.08.011     Document Type: Review

References (159)

1. Tsai K.Y., and Tsao H. Primer on the human genome. J Am Acad Dermatol 56 5 (2007) 719-735
2. Somoano B., Niendorf K.B., and Tsao H. Hereditary cancer syndromes of the skin. Clin Dermatol 23 1 (2005) 85-106
3. Evans D.G., Ladusans E.J., Rimmer S., et al. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30 6 (1993) 460-464
4. Shanley S., Ratcliffe J., Hockey A., et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Hum Genet 50 (1994) 282-290
5. Chiritescu E., and Maloney M.E. Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. J Am Acad Dermatol 44 5 (2001) 789-794
6. van Ruth S., Jansman F.G., and Sanders C.J. Total body topical 5-fluorouracil for extensive non-melanoma skin cancer. Pharm World Sci 28 3 (2006) 159-162
7. Chapas A.M., and Gilchrest B.A. Broad area photodynamic therapy for treatment of multiple basal cell carcinomas in a patient with nevoid basal cell carcinoma syndrome. J Drugs Dermatol 5 2 Suppl (2006) 3-5
8. Vogt A., Chuang P.T., Hebert J., et al. Immunoprevention of basal cell carcinomas with recombinant hedgehog-interacting protein. J Exp Med 199 6 (2004) 753-761
9. Kolm I., Puig S., Iranzo P., et al. Dermoscopy in Gorlin-Goltz syndrome. Dermatol Surg 32 6 (2006) 847-851
10. Gorlin R.J. Nevoid basal cell carcinoma syndrome. Medicine 66 (1987) 98-110
11. Wilson L.C., Ajayi-Obe E., Bernhard B., et al. Patched mutations and hairy skin patches: a new sign in Gorlin syndrome. Am J Med Genet A 140 23 (2006) 2625-2630
12. Kimonis V.E., Goldstein A.M., Pastakia B., et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Hum Genet 69 (1997) 299-308
13. Evans D.G., Farndon P.A., Burnell L.D., et al. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 64 (1991) 959-961
14. Thrum K., Gajda M., and Settmacher U. Large mediastinal sarcoma in a patient with Gorlin-Goltz syndrome. Thorac Cardiovasc Surg 54 6 (2006) 437-439
15. Tsao H. Update on familial cancer syndromes and the skin. J Am Acad Dermatol 42 6 (2000) 939-969 [quiz 970-932]
16. Klein R.D., Dykas D.J., and Bale A.E. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med 7 9 (2005) 611-619
17. Rivers J.K. Melanoma. Lancet 347 9004 (1996) 803-806
18. Puig S., Malvehy J., Badenas C., et al. Role of the CDKN2A locus in patients with multiple primary melanomas. J Clin Oncol 23 13 (2005) 3043-3051
19. Goldstein A.M., Fraser M.C., Struewing J.P., et al. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 333 (1995) 970-974
20. Hille E.T.M., van Duijn E., Gruis N.A., et al. Excess cancer mortality in six Dutch pedigrees with the familial atypical multiple mole-melanoma syndrome from 1830 to 1994. J Invest Dermatol 110 (1998) 788-792
21. Debniak T., Gorski B., Huzarski T., et al. A common variant of CDKN2A (p16) predisposes to breast cancer. J Med Genet 42 10 (2005) 763-765
22. Debniak T., Scott R.J., Huzarski T., et al. CDKN2A common variant and multi-organ cancer risk-a population-based study. Int J Cancer 118 12 (2006) 3180-3182
23. Orlow I., Begg C.B., Cotignola J., et al. CDKN2A germline mutations in individuals with cutaneous malignant melanoma. J Invest Dermatol 127 5 (2007) 1234-1243
24. Cannon-Albright L.A., Goldgar D.E., Meyer L.J., et al. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science 258 (1992) 1148-1152
25. Kamb A. A cell cycle regulator potentially involved in genesis of many tumor types. Science 264 (1994) 436-439
26. Nobori T., Miura K., Wu D.J., et al. Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 368 (1994) 753-756
27. Hussussian C.J., Struewing J.P., Goldstein A.M., et al. Germline p16 mutations in familial melanoma. Nat Genet 8 (1994) 15-21
28. Miller A.J., and Mihm Jr. M.C. Melanoma. N Engl J Med 355 1 (2006) 51-65
29. Pjanova D., Engele L., Randerson-Moor J.A., et al. CDKN2A and CDK4 variants in Latvian melanoma patients: analysis of a clinic-based population. Melanoma Res 17 3 (2007) 185-191
30. Gillanders E., Hank Juo S.H., Holland E.A., et al. Localization of a novel melanoma susceptibility locus to 1p22. Am J Hum Genet 73 2 (2003) 301-313
31. Bishop D.T., Demenais F., Goldstein A.M., et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 94 12 (2002) 894-903
32. Begg C.B., Orlow I., Hummer A.J., et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst 97 20 (2005) 1507-1515
33. Chaudru V., Chompret A., Bressac-de Paillerets B., et al. Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families. J Natl Cancer Inst 96 10 (2004) 785-795
34. Box N.F., Duffy D.L., Chen W., et al. MC1R genotype modifies risk of melanoma in families segregating cdkn2a mutations. Am J Hum Genet 69 4 (2001) 765-773
35. Kefford R.F., Newton Bishop J.A., Bergman W., et al. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium. J Clin Oncol 17 10 (1999) 3245-3251
36. Goldstein A.M., Struewing J.P., Chidambaram A., et al. Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations. J Natl Cancer Inst 92 12 (2000) 1006-1010
37. Goldstein A.M., and Tucker M.A. Screening for CDKN2A mutations in hereditary melanoma. J Natl Cancer Inst 89 (1997) 676-677
38. Cleaver J.E., and Kraemer K.H. Xeroderma pigmentosum and cockayne syndrome. In: Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds). The metabolic and molecular bases of inherited disease vol. 3 (1995), McGraw-Hill, New York 4393-4419
39. Kraemer K.H., Lee M.M., and Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 123 2 (1987) 241-250
40. Kraemer K.H., Lee M.M., Andrews A.D., et al. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Arch Dermatol 130 8 (1994) 1018-1021
41. Bootsma D., Kraemer K.H., Cleaver J.E., et al. Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In: Vogelstein B.V., and Kinzler K. (Eds). The genetic basis of human cancer (1998), McGraw Hill, New York 245-274
42. Shao L., Newell B., and Quintanilla N. Atypical fibroxanthoma and squamous cell carcinoma of the conjunctiva in xeroderma pigmentosum. Pediatr Dev Pathol 10 2 (2007) 149-152
43. Kraemer K.H., Patronas N.J., Schiffmann R., et al. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 145 4 (2007) 1388-1396
44. Ohto T., Iwasaki N., Okubo H., et al. Life-threatening vocal cord paralysis in a patient with group A xeroderma pigmentosum. Pediatr Neurol 30 3 (2004) 222-224
45. Kraemer K.H., Lee M.M., and Scotto J. DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum. Carcinogenesis 5 4 (1984) 511-514
46. Kiyohara C., and Yoshimasu K. Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis. Int J Med Sci 4 2 (2007) 59-71
47. Yang G., Curley D., Bosenberg M.W., et al. Loss of xeroderma pigmentosum C (Xpc) enhances melanoma photocarcinogenesis in ink4a-arf-deficient mice. Cancer Res 67 12 (2007) 5649-5657
48. Nelen M.R., Kremer H., Konings I.B., et al. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet 7 3 (1999) 267-273
49. Schrager C.A., Schneider D., Gruener A.C., et al. Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 29 1 (1998) 47-53
50. Starink T.M., van der Veen J.P., Arwert F., et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 29 (1986) 222-233
51. Brownstein M.H., Wolf M., and Bikowski J.B. Cowden's disease: a cutaneous marker of breast cancer. Cancer 41 6 (1978) 2393-2398
52. Eng C., and Parsons R. Cowden syndrome. In: Vogelstein B., and Kinzler K.W. (Eds). The genetic basis of human cancer (1998), McGraw Hill, New York 519-525
53. Pilarski R., and Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 41 5 (2004) 323-326
54. Bosserhoff A.K., Grussendorf-Conen E.I., Rubben A., et al. Multiple colon carcinomas in a patient with Cowden syndrome. Int J Mol Med 18 4 (2006) 643-647
55. Robinson S., and Cohen A.R. Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. Neurosurg Focus 20 1 (2006) E6
56. Nelen M.R., Padberg G.W., Peeters E.A., et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13 (1996) 114-116
57. Li J., Yen C., Liaw D., et al. PTEN, a putative tyrosine phosphatase gene mutated in human brain, breast and prostate cancer. Science 275 (1997) 1943-1947
58. Steck P.A., Pershouse M.A., Jasser S.A., et al. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 15 (1997) 356-362
59. Liaw D., Marsh D.J., Li J., et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16 (1997) 64-67
60. Zhou X.P., Waite K.A., Pilarski R., et al. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet 73 2 (2003) 404-411
61. Sarquis M.S., Agrawal S., Shen L., et al. Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Hum Genet 79 1 (2006) 23-30
62. Ponti G., Losi L., Pedroni M., et al. Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. J Invest Dermatol 126 10 (2006) 2302-2307
63. Lynch H.T., Fusaro R.M., and Lynch P.M. Sebaceous skin lesions as clues to hereditary non-polyposis colorectal cancer. J Invest Dermatol 126 10 (2006) 2158-2159
64. Cohen P.R., Kohn S.R., and Kurzrock R. Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. Am J Med 90 (1991) 606-613
65. Akhtar S., Oza K.K., Khan S.A., et al. Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. J Am Acad Dermatol 41 5 Pt 1 (1999) 681-686
66. Hall N.R., Murday V.A., Chapman P., et al. Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. Eur J Cancer 30A (1994) 180-182
67. Kruse R., Rutten A., Lamberti 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. [published erratum appears in Am J Hum Genet 1998 Oct;63(4):1252]. Am J Hum Genet 63 1 (1998) 63-70
68. Umar A., Boland C.R., Terdiman J.P., et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96 4 (2004) 261-268
69. Ponti G., Losi L., Di Gregorio C., et al. Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. Cancer 103 5 (2005) 1018-1025
70. Mangold E., Pagenstecher C., Leister M., et al. A genotype-phenotype correlation in HNPCC: strong predominance of MSH2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 41 7 (2004) 567-572
71. Leppard B., and Bussey H.J. Epidermoid cysts, polyposis coli and Gardner's syndrome. Br J Surg 62 (1975) 387-393
72. Bilkay U., Erdem O., Ozek C., et al. Benign osteoma with Gardner syndrome: review of the literature and report of a case. J Craniofac Surg 15 3 (2004) 506-509
73. Burt R.W. Colon cancer screening. Gastroenterology 119 3 (2000) 837-853
74. Bell B., and Mazzaferri E.L. Familial adenomatous polyposis (Gardner's syndrome) and thyroid carcinoma. A case report and review of the literature. Dig Dis Sci 38 1 (1993) 185-190
75. Herve R., Farret O., Mayaudon H., et al. [Association of Gardner syndrome and thyroid carcinoma]. Presse Med 24 8 (1995) 415 [in French]
76. Lynch H.T., and Fitzgibbons Jr. R. Surgery, desmoid tumors, and familial adenomatous polyposis: case report and literature review. Am J Gastroenterol 91 12 (1996) 2598-2601
77. Coffin C.M., Hornick J.L., Zhou H., et al. Gardner fibroma: a clinicopathologic and immunohistochemical analysis of 45 patients with 57 fibromas. Am J Surg Pathol 31 3 (2007) 410-416
78. Traboulsi E.I., Krush A.J., Gardner E.J., et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med 316 (1987) 661-667
79. Carl W., and Herrera L. Dental and bone abnormalities in patients with familial polyposis coli. Semin Surg Oncol 3 2 (1987) 77-83
80. Groden J., Thliveris A., Samowitz W., et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66 (1991) 589-600
81. Bisgaard M.L., Fenger K., Bulow S., et al. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 3 2 (1994) 121-125
82. Powell S.M., Petersen G.M., Krush A.J., et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 329 27 (1993) 1982-1987
83. Michils G., Tejpar S., Thoelen R., et al. Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat 25 2 (2005) 125-134
84. Aretz S., Stienen D., Uhlhaas S., et al. Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet 42 2 (2005) 185-192
85. Wallis Y.L., Morton D.G., McKeown C.M., et al. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 36 1 (1999) 14-20
86. Speake D., Evans D.G., Lalloo F., et al. Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. Br J Surg (2007) [epub ahead of print]
87. Osborne J.P., Fryer A., and Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 615 (1991) 125-127
88. Roach E.S., Gomez M.R., and Northrup H. Tuberous Sclerosis Complex Consensus Conference: revised clinical diagnostic criteria. J Child Neurol 13 12 (1998) 624-628
89. Webb D.W., Clarke A., Fryer A., et al. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol 135 1 (1996) 1-5
90. Crino P.B., Nathanson K.L., and Henske E.P. The tuberous sclerosis complex. N Engl J Med 355 13 (2006) 1345-1356
91. Jozwiak S., Schwartz R.A., Janniger C.K., et al. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. Int J Dermatol 37 12 (1998) 911-917
92. Sparling J.D., Hong C.H., Brahim J.S., et al. Oral findings in 58 adults with tuberous sclerosis complex. J Am Acad Dermatol 56 5 (2007) 786-790
93. Webb D.W., Fryer A.E., and Osborne J.P. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol 38 2 (1996) 146-155
94. Thiele E.A. Managing epilepsy in tuberous sclerosis complex. J Child Neurol 19 9 (2004) 680-686
95. Wiznitzer M. Autism and tuberous sclerosis. J Child Neurol 19 9 (2004) 675-679
96. Ewalt D.H., Sheffield E., Sparagana S.P., et al. Renal lesion growth in children with tuberous sclerosis complex. J Urol 160 1 (1998) 141-145
97. Shepherd C.W., Gomez M.R., Lie J.T., et al. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 66 8 (1991) 792-796
98. Gibbs J.L. The heart and tuberous sclerosis. An echocardiographic and electrocardiographic study. Br Heart J 54 6 (1985) 596-599
99. Smith H.C., Watson G.H., Patel R.G., et al. Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value. Arch Dis Child 64 2 (1989) 196-200
100. Jozwiak S., Kawalec W., Dluzewska J., et al. Cardiac tumours in tuberous sclerosis: their incidence and course. Eur J Pediatr 153 3 (1994) 155-157
101. Fryer A.E., Chalmers A., Connor J.M., et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1 (1987) 659-661
102. Povey S., Burley M.W., Attwood J., et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet 58 Pt 2 (1994) 107-127
103. Sancak O., Nellist M., Goedbloed M., et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet 13 6 (2005) 731-741
104. Lammert M., Friedman J.M., Kluwe L., et al. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 141 1 (2005) 71-74
105. Gutmann D.H., Aylsworth A., Carey J.C., et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278 1 (1997) 51-57
106. Boulanger J.M., and Larbrisseau A. Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience. Can J Neurol Sci 32 2 (2005) 225-231
107. Alper J.C., and Holmes L.B. The incidence and significance of birthmarks in a cohort of 4641 newborns. Pediatr Dermatol 1 1 (1983) 58-68
108. Kopf A.W., Levine L.J., Rigel D.S., et al. Congenital-nevus-like nevi, nevi spili, and cafe-au-lait spots in patients with malignant melanoma. J Dermatol Surg Oncol 11 3 (1985) 275-280
109. Neurofibromatosis-conference statement. Arch Neurol 45 (1988) 575-578
110. Huson S.M., Harper P.S., and Compston D.A. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 111 Pt 6 (1988) 1355-1381
111. Friedman J.M., and Birch P.H. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1728 patients. Am J Med Genet 70 2 (1997) 138-143
112. Barringer C.B., Gorse S.J., Rigby H.S., et al. Multiple malignant melanomas in association with neurofibromatosis type 1. J Plast Reconstr Aesthet Surg 59 12 (2006) 1359-1362
113. Walker L., Thompson D., Easton D., et al. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer 95 2 (2006) 233-238
114. Evans D.G., Baser M.E., McGaughran J., et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 39 5 (2002) 311-314
115. Anghileri M., Miceli R., Fiore M., et al. Malignant peripheral nerve sheath tumors: prognostic factors and survival in a series of patients treated at a single institution. Cancer 107 5 (2006) 1065-1074
116. Blatt J., Jaffe R., Deutsch M., et al. Neurofibromatosis and childhood tumors. Cancer 57 6 (1986) 1225-1229
117. Stiller C.A., Chessells J.M., and Fitchett M. Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study. Br J Cancer 70 (1994) 969-972
118. Lewis R.A., and Riccardi V.M. Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata. Ophthalmology 88 4 (1981) 348-354
119. Wallace M.R., Marchuk D.A., Anderson L.B., et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF 1 patients. Science 249 (1990) 181-186
120. Cawthon R.M., Weiss R., Xu G., et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62 (1990) 193-201
121. Lee M.J., and Stephenson D.A. Recent developments in neurofibromatosis type 1. Curr Opin Neurol 20 2 (2007) 135-141
122. Messiaen L.M., Callens T., Mortier G., et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15 6 (2000) 541-555
123. Mattocks C., Baralle D., Tarpey P., et al. Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. J Med Genet 41 4 (2004) E48
124. Mensink K.A., Ketterling R.P., Flynn H.C., et al. Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. J Med Genet 43 2 (2006) E8
125. Upadhyaya M., Huson S.M., Davies M., et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 80 1 (2007) 140-151
126. Evans D.G., Moran A., King A., et al. Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol 26 1 (2005) 93-97
127. Parry D.M., Eldridge R., Kaiser-Kupfer M.I., et al. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52 (1994) 450-461
128. Evans D.G., Huson S.M., Donnai D., et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet 29 12 (1992) 847-852
129. Ruggieri M., Iannetti P., Polizzi A., et al. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics 36 1 (2005) 21-34
130. MacCollin M., Chiocca E.A., Evans D.G., et al. Diagnostic criteria for schwannomatosis. Neurology 64 11 (2005) 1838-1845
131. Mautner V.F., Lindenau M., Baser M.E., et al. Skin abnormalities in neurofibromatosis 2. Arch Dermatol 133 12 (1997) 1539-1543
132. National Institutes of Health Consensus Development Conference statement on acoustic neuroma, December 11-13, 1991. The Consensus Development Panel. Arch Neurol 51 (1994) 201-207
133. Slattery III W.H., Fisher L.M., Iqbal Z., et al. Vestibular schwannoma growth rates in neurofibromatosis type 2 natural history consortium subjects. Otol Neurotol 25 5 (2004) 811-817
134. Evans D.G., Birch J.M., Ramsden R.T., et al. Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet 43 4 (2006) 289-294
135. Mautner V.F., Tatagiba M., Lindenau M., et al. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR Am J Roentgenol 165 (1995) 951-955
136. Evans D.G., Huson S.M., Donnai D., et al. A clinical study of type 2 neurofibromatosis. Q J Med 84 (1992) 603-618
137. Evans D.G., Watson C., King A., et al. Multiple meningiomas: differential involvement of the NF2 gene in children and adults. J Med Genet 42 1 (2005) 45-48
138. Bouzas E.A., Freidlin V., Parry D.M., et al. Lens opacities in neurofibromatosis 2: further significant correlations. Br J Ophthalmol 77 (1993) 354-357
139. Seizinger B.R., Martuza R.L., and Gusella J.F. Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 322 (1986) 644-647
140. Rouleau G.A., Wertelecki W., Haines J.L., et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329 (1987) 246-248
141. Rouleau G.A., Mere P., Lutchman M., et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363 (1993) 515-521
142. McClatchey A.I., and Giovannini M. Membrane organization and tumorigenesis-the NF2 tumor suppressor, merlin. Genes Dev 19 19 (2005) 2265-2277
143. Kluwe L., Mautner V., Heinrich B., et al. Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 40 2 (2003) 109-114
144. Wallace A.J., Watson C.J., Oward E., et al. Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis. Genet Test 8 4 (2004) 368-380
145. Kluwe L., Nygren A.O., Errami A., et al. Screening for large mutations of the NF2 gene. Genes Chromosomes Cancer 42 4 (2005) 384-391
146. Birt A.R., Hogg G.R., and Dube W.J. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 113 12 (1977) 1674-1677
147. Toro J.R., Pautler S.E., Stewart L., et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome. Am J Respir Crit Care Med 175 10 (2007) 1044-1053
148. Zbar B., Alvord W.G., Glenn G., et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev 11 4 (2002) 393-400
149. Pavlovich C.P., Grubb III R.L., Hurley K., et al. Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome. J Urol 173 5 (2005) 1482-1486
150. Schmidt L.S., Nickerson M.L., Warren M.B., et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 76 6 (2005) 1023-1033
151. Schmidt L.S., Warren M.B., Nickerson M.L., et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 69 4 (2001) 876-882
152. Khoo S.K., Bradley M., Wong F.K., et al. Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene 20 37 (2001) 5239-5242
153. Nickerson M.L., Warren M.B., Toro J.R., et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2 2 (2002) 157-164
154. Wei M.H., Toure O., Glenn G.M., et al. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 43 1 (2006) 18-27
155. Alam N.A., Barclay E., Rowan A.J., et al. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 141 2 (2005) 199-206
156. Grubb III R.L., Franks M.E., Toro J., et al. Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. J Urol 177 6 (2007) 2074-2079 [discussion 2079-80]
157. Launonen V., Vierimaa O., Kiuru M., et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A 98 6 (2001) 3387-3392
158. Tomlinson I.P., Alam N.A., Rowan A.J., et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30 4 (2002) 406-410
159. Pithukpakorn M., Wei M.H., Toure O., et al. Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 43 9 (2006) 755-762