Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 327-332

  Evans, D G ^a,b   Howard, E ^a,b   Giblin, C ^a,b   Clancy, T ^a,b   Spencer, H ^a,b   Huson, S M ^a,b   Lalloo, F ^a,b  

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

De novo; FAP; Gorlin syndrome; Incidence; NF1; NF2; Prevalence; vHL

Indexed keywords

ADENOMATOUS POLYP; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASAL CELL NEVUS SYNDROME; BIRTH RATE; CONTROLLED STUDY; FAMILIAL POLYPOSIS; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MORBIDITY; MUTATION RATE; NEUROFIBROMATOSIS; PREVALENCE; PRIORITY JOURNAL; REGISTER; UNITED KINGDOM; VON HIPPEL LINDAU DISEASE;

ADENOMATOUS POLYPOSIS COLI; BASAL CELL NEVUS SYNDROME; DNA MUTATIONAL ANALYSIS; GREAT BRITAIN; HUMANS; INCIDENCE; MUTATION; NEOPLASMS; NEUROFIBROMATOSIS 2; PREVALENCE; REGISTRIES; SYNDROME; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 75449091572     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33139     Document Type: Article

References (37)

1. Antinheimo J, Sankila R, Carpén O, Pukkala E, Sainio M, Jääskeläinen J. 2000. Population-based analysis of sporadic and type 2 neuro-fibromatosis-associated meningiomas and schwannomas. Neurology 54:71-76.
2. Baser ME, Friedman JM, Aeschilman D, Joe H, Wallace AJ, Ramsden RT, Evans DGR. 2002a. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet 71:715-723.
3. Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, Evans DGR. 2002b. Evaluation of diagnosticcriteria for neurofibromatosis 2. Neurology 59:1759-1765.
4. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. 1994. Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate. Hum Mutat 3:121-125.
5. Björk J, Akerbrant H, Iselius L, Alm T, Hultcrantz R. 1999. Epidemiology of familial adenomatous polyposis in Sweden: Changes over time and differences in phenotype between males and females. Scand J Gastroenterol 34:1230-1235.
6. Boutet N, Bignon YJ, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, Gorry P. 2003. Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol 121:478-481.
7. Brems H, Chmara M,SahbatouM,Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. 2007. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 39:1120-1126.
8. Bülow S. 2003. Results of national registration of familial adenomatous polyposis. Gut 52:742-746.
9. Bülow S, Faurschou Nielsen T, Bülow C, Bisgaard ML, Karlsen L, Moesgaard F. 1996. The incidence rate of familial adenomatous polyposis. Results from the Danish Polyposis Register. Int J Colorectal Dis 11:88-91.
10. Bussey HJR. 1975. Familial polyposis coli. Family studies, histopathology, differential diagnosis and results of treatment. Baltimore: The Johns Hopkins University Press.
11. Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. 1996. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res 56:4599-4601.
12. Cowan R, Hoban P, Kelsey A, Birch JM, Evans DGR. 1997. The gene for the Naevoid Basal Cell Carcinoma (Gorlin) syndrome acts as a tumor suppressor gene in medulloblastoma. Br J Cancer 76:141-145.
13. Evans DGR, Farndon PA. 2009. Nevoid Basal Cell Carcinoma Syndrome. in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. Available at http://www.geneclinics.org.
14. Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R. 1992a. A genetic study of type 2 neurofibromatosis: I prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity. J Med Genet 29:841-846.
15. Evans DGR, Huson S, Donnai D, Neary W, Blair V, Newton V, Harris R. 1992b. A clinical study of type 2 neurofibromatosis. Q J Med 84:603-618.
16. Evans DGR, Ladusans E, Rimmer S, Burnell LD, Thakker N, Farndon PA. 1993. Complications of the Naevoid Basal Cell Carcinoma Syndrome: Results of a population based study. J Med Genet 30:460-464.
17. Evans DGR, Baser ME, McGaughran J, Sharif S, Donnelly B, Moran A. 2002. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 39:311-314.
18. Evans DGR, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R. 2005. 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 26:93-97.
19. Garty BZ, Laor A, Danon YL. 1994. Neurofibromatosis type 1 in Israel: Survey of young adults. J Med Genet 31:853-857.
20. Heiskanen I, Luostarinen T, Järvinen HJ. 2000. Impact of screening examinations on survival in familial adenomatous polyposis. Scand J Gastroenterol 35:1284-1287.
21. Huson SM, Compston DA, Clark P, Harper PS. 1989.Agenetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 26:704-711.
22. Järvinen HJ. 1992. Epidemiology of familial adenomatous polyposis in Finland: Impact of family screening on the colorectal cancer rate and survival. Gut 33:357-360.
23. Lammert M, Friedman JM, Kluwe L, Mautner VF. 2005. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 141:71-74.
24. Maddock I, Moran A, Teare D, Norman A, Lavin M, Dodd C, Whitehouse R, Super M, Harris R, Evans DGR. 1996.A genetic register for von Hippel Lindau disease. J Med Genet 33:120-127.
25. Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA, Morton N. 1991. Von Hippel-Lindau disease: A genetic study. J Med Genet 28:443-447.
26. McCaughan JA, Holloway SM, Davidson R, Lam WW. 2007. Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1. J Med Genet 44:463-466.
27. Mulvihill JJ, ParryDM,Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R, NIH conference. 1990. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med 113:39-52.
28. National Institutes of Health Consensus Development Conference. 1988. Neurofibromatosis conference statement. Arch Neurol 45:575-578.
29. Nugent KP, Spigelman AD, Phillips RK. 1993. Life expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum 36:1059-1062.
30. Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, SoufirN, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. 2009. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet 46:425-430.
31. Porter DE, Prasad V, Foster L, Dall GF, Birch R, Grimer RJ. 2009. Survival in malignant peripheral nerve sheath tumours: A comparison between sporadic and neurofibromatosis type 1-associated tumours. Sarcoma 756395. Epub 2009 Apr 7.
32. Rodenhiser DI, Coulter-Mackie MB, Jung JH, Singh SM. 1991. A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage. J Med Genet 28:746-751.
33. Soufir N, Gerard B, Portela M, Brice A, Liboutet M, Saiag P, Descamps V, Kerob D, Wolkenstein P, Gorin I, Lebbe C, Dupin N, Crickx B, Basset-Seguin N, Grandchamp B. 2006. PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: A French study. Br J Cancer 95:548-553.
34. Spurlock G, Bennett E, Chuzhanova N,Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M. 2009. SPRED1 mutations (Legius syndrome): Another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet 46:431-437.
35. Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. 2007. An absence of cutaneous neurofibromas associated with a 3-bp in-frame 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 80:140-151.
36. Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Järvinen H, Mecklin JP,Møller P, Myrhøi T, Nagengast FM, Parc Y, Phillips R, Clark SK, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J. 2008. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57:704-713.
37. Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G. 1997. 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 60:21-26.