Prevalence of germline BAP1, CDKN2A, and CDK4 mutations in an australian population-based sample of cutaneous melanoma cases

Aoude, Lauren G., Gartside, Michael, Johansson, Peter, Palmer, Jane M., Symmons, Judith, Martin, Nicholas G., Montgomery, Grant W. and Hayward, Nicholas K. (2015) Prevalence of germline BAP1, CDKN2A, and CDK4 mutations in an australian population-based sample of cutaneous melanoma cases. Twin Research and Human Genetics, 18 2: 126-133. doi:10.1017/thg.2015.12


Author Aoude, Lauren G.
Gartside, Michael
Johansson, Peter
Palmer, Jane M.
Symmons, Judith
Martin, Nicholas G.
Montgomery, Grant W.
Hayward, Nicholas K.
Title Prevalence of germline BAP1, CDKN2A, and CDK4 mutations in an australian population-based sample of cutaneous melanoma cases
Journal name Twin Research and Human Genetics   Check publisher's open access policy
ISSN 1839-2628
1832-4274
Publication date 2015-04-01
Year available 2015
Sub-type Article (original research)
DOI 10.1017/thg.2015.12
Open Access Status Not yet assessed
Volume 18
Issue 2
Start page 126
End page 133
Total pages 8
Place of publication Cambridge, United Kingdom
Publisher Cambridge University Press
Language eng
Subject 2735 Pediatrics, Perinatology, and Child Health
2729 Obstetrics and Gynaecology
2716 Genetics (clinical)
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.
Keyword BAP1
CDK4
CDKN2A
Cutaneous melanoma
Germline mutation
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
 
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