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Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases.
- Source :
-
Twin research and human genetics : the official journal of the International Society for Twin Studies [Twin Res Hum Genet] 2015 Apr; Vol. 18 (2), pp. 126-33. Date of Electronic Publication: 2015 Mar 19. - Publication Year :
- 2015
-
Abstract
- Mutations in Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A) and Cyclin-Dependent Kinase 4 (CDK4) contribute to susceptibility in approximately 40% of high-density cutaneous melanoma (CMM) families and about 2% of unselected CMM cases. BRCA-1 associated protein-1 (BAP1) has been more recently shown to predispose to CMM and uveal melanoma (UMM) in some families; however, its contribution to CMM development in the general population is unreported. We sought to determine the contribution of these genes to CMM susceptibility in a population-based sample of cases from Australia. We genotyped 1,109 probands from Queensland families and found that approximately 1.31% harbored mutations in CDKN2A, including some with novel missense mutations (p.R22W, p.G35R and p.I49F). BAP1 missense variants occurred in 0.63% of cases but no CDK4 variants were observed in the sample. This is the first estimate of the contribution of BAP1 and CDK4 to a population-based sample of CMM and supports the previously reported estimate of CDKN2A germline mutation prevalence.
- Subjects :
- Australia epidemiology
Female
Follow-Up Studies
Humans
Male
Melanoma epidemiology
Prevalence
Skin Neoplasms epidemiology
Cyclin-Dependent Kinase 4 genetics
Cyclin-Dependent Kinase Inhibitor p16 genetics
Melanoma genetics
Mutation
Skin Neoplasms genetics
Tumor Suppressor Proteins genetics
Ubiquitin Thiolesterase genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1832-4274
- Volume :
- 18
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Twin research and human genetics : the official journal of the International Society for Twin Studies
- Publication Type :
- Academic Journal
- Accession number :
- 25787093
- Full Text :
- https://doi.org/10.1017/thg.2015.12