Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
25787093
TITLE
Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases.
ABSTRACT
NlmCategory: UNASSIGNED
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.
DATE PUBLISHED
2015 Mar 19
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2015/03/20 06:00
pubmed 2015/03/20 06:00
medline 2015/03/20 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Aoude LG Aoude Lauren G LG QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
Gartside M Gartside Michael M QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
Johansson P Johansson Peter P QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
Palmer JM Palmer Jane M JM QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
Symmons J Symmons Judith J QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
Montgomery GW Montgomery Grant W GW QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
Hayward NK Hayward Nicholas K NK QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: Twin research and human genetics : the official journal of the International Society for Twin Studies
ISOABBREVIATION: Twin Res Hum Genet
YEAR: 2015
MONTH: Mar
DAY: 19
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1832-4274
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Twin Res Hum Genet
COUNTRY: England
ISSNLINKING: 1832-4274
NLMUNIQUEID: 101244624
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
JOURNAL ARTICLE
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
KEYWORD
germline mutation
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
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