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| PMID |
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| TITLE |
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| Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases. |
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| ABSTRACT |
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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. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| entrez |
2015/03/20 06:00 |
| pubmed |
2015/03/20 06:00 |
| medline |
2015/03/20 06:00 |
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| AUTHORS |
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| 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 |
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QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia. |
| Symmons J |
|
Symmons |
Judith |
J |
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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. |
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| INVESTIGATORS |
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| JOURNAL |
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| 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 |
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| MEDLINE JOURNAL |
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| MEDLINETA: Twin Res Hum Genet |
| COUNTRY: England |
| ISSNLINKING: 1832-4274 |
| NLMUNIQUEID: 101244624 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| JOURNAL ARTICLE |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GENERAL NOTE |
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| KEYWORDS |
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| KEYWORD |
| germline mutation |
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| MESH HEADINGS |
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| SUPPLEMENTARY MESH |
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| GENE SYMBOLS |
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| CHEMICALS |
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