title: Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.
abstract: Autosomal dominantly inherited tumor-prone syndromes are a substantial health problem and are amenable to epidemiologic studies by combining cancer surveillance registries with a genetic register (GR)-based approach. Knowledge of the frequency of the conditions provides a basis for appropriate health-resources allocations. GRs for five tumor-prone syndromes were established in the Manchester region of North West England in 1989 and 1990. Mapping birth dates of affected individuals from families onto regional birth rates has allowed an estimate of birth incidence, disease prevalence, and de novo mutation rates. Disease prevalence in order of frequency were for neurofibromatosis type 1 (NF1): 1 in 4,560; familial adenomatous polyposis (FAP): 1 in 18,976; nevoid basal cell carcinoma [Gorlin syndrome (GS)]: 1 in 30,827; neurofibromatosis type 2 (NF2) 1 in 56,161; and von Hippel Lindau (VHL) 1 in 91,111. Best estimates for birth incidence were: 1 in 2,699; 1 in 8,619; 1 in 14,963, 1 in 33,000; and 1 in 42,987, respectively. The proportions due to de novo mutation were: 42% (NF1); 16% (FAP); 26% (GS); 56% (NF2); and 21% (VHL). Estimates for NF1, NF2, FAP, and VHL are in line with previous estimates, and we provide the first estimates of birth incidence and de novo mutation rate for GS.
authors.affiliation: Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester, UK. gareth.evans@cmmc.nhs.uk
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
authors.forename: E
authors.initials: E
authors.lastname: Howard
authors.forename: C
authors.initials: C
authors.lastname: Giblin
authors.forename: T
authors.initials: T
authors.lastname: Clancy
authors.forename: H
authors.initials: H
authors.lastname: Spencer
authors.forename: S M
authors.initials: SM
authors.lastname: Huson
authors.forename: F
authors.initials: F
authors.lastname: Lalloo
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics; D001478:Basal Cell Nevus Syndrome / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D015994:Incidence; D009154:Mutation; D009369:Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000235:genetics; D015995:Prevalence; D012042:Registries; D013577:Syndrome; D006113:United Kingdom; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000235:genetics
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein