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|
| PMID |
|
|
| TITLE |
|
| BRAF polymorphisms and risk of melanocytic neoplasia. |
|
| ABSTRACT |
|
|
|
| Somatic mutations of the BRAF gene are common in melanomas and nevi but the contribution of polymorphisms in this gene to melanoma or nevus susceptibility remains unclear. An Australian melanoma case-control sample was typed for 16 single nucleotide polymorphisms (SNP) within the BRAF gene, and five SNP in three neighboring genes. The sample comprised 755 melanoma cases from 740 families stratified by family history of melanoma and controls from 635 unselected twin families (2,239 individuals). Ancestry of the cases and controls was recorded, and the twins had undergone skin examination to assess total body nevus count, degree of freckling, and pigmentation phenotype. Genotyping was carried out via primer extension followed by matrix-assisted laser desorption ionization-time of flight mass spectrometry. SNP in the BRAF gene were found to be weakly associated with melanoma status but not with development of nevi or freckles. The estimated proportion of attributable risk of melanoma due to variants in BRAF is 1.6%. This study shows that BRAF polymorphisms predispose to melanoma but the causal variant has yet to be determined. The burden of disease associated with this variant is greater than that associated with the major melanoma susceptibility locus CDKN2A, which has an estimated attributable risk of 0.2%. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| pubmed |
2005/12/16 09:00 |
| medline |
2006/01/27 09:00 |
| entrez |
2005/12/16 09:00 |
|
| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| James MR |
|
James |
Michael R |
MR |
|
Queensland Institute of Medical Research, Brisbane, Australia. michaelJ@qimr.edu.au |
| Roth RB |
|
Roth |
Richard B |
RB |
|
|
| Shi MM |
|
Shi |
Michael M |
MM |
|
|
| Kammerer S |
|
Kammerer |
Stefan |
S |
|
|
| Nelson MR |
|
Nelson |
Matthew R |
MR |
|
|
| Stark MS |
|
Stark |
Mitchell S |
MS |
|
|
| Dumenil T |
|
Dumenil |
Troy |
T |
|
|
| Montgomery GW |
|
Montgomery |
Grant W |
GW |
|
|
| Hayward NK |
|
Hayward |
Nicholas K |
NK |
|
|
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
|
| Braun A |
|
Braun |
Andreas |
A |
|
|
| Duffy DL |
|
Duffy |
David L |
DL |
|
|
|
| INVESTIGATORS |
|
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| JOURNAL |
|
| VOLUME: 125 |
| ISSUE: 6 |
| TITLE: The Journal of investigative dermatology |
| ISOABBREVIATION: J. Invest. Dermatol. |
| YEAR: 2005 |
| MONTH: Dec |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Print |
| ISSN: 0022-202X |
| ISSNTYPE: Print |
|
| MEDLINE JOURNAL |
|
| MEDLINETA: J Invest Dermatol |
| COUNTRY: United States |
| ISSNLINKING: 0022-202X |
| NLMUNIQUEID: 0426720 |
|
| PUBLICATION TYPE |
|
| PUBLICATIONTYPE TEXT |
| Journal Article |
| Research Support, N.I.H., Extramural |
| Research Support, Non-U.S. Gov't |
|
| COMMENTS AND CORRECTIONS |
|
|
| GRANTS |
|
| GRANTID |
AGENCY |
COUNTRY |
| CA88363 |
NCI NIH HHS |
United States |
|
| GENERAL NOTE |
|
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| KEYWORDS |
|
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| MESH HEADINGS |
|
| DESCRIPTORNAME |
QUALIFIERNAME |
| Diseases in Twins |
genetics |
| Exons |
genetics |
| Female |
genetics |
| Gene Frequency |
genetics |
| Genes, p16 |
genetics |
| Humans |
genetics |
| Introns |
genetics |
| Male |
genetics |
| Melanocytes |
pathology |
| Melanoma |
genetics |
| Polymorphism, Genetic |
genetics |
| Polymorphism, Single Nucleotide |
genetics |
| Proto-Oncogene Proteins B-raf |
genetics |
| Risk |
genetics |
| Sex Characteristics |
genetics |
| Skin Neoplasms |
genetics |
|
| SUPPLEMENTARY MESH |
|
|
| GENE SYMBOLS |
|
|
| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| EC 2.7.11.1 |
BRAF protein, human |
| EC 2.7.11.1 |
Proto-Oncogene Proteins B-raf |
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| OTHER ID's |
|
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|
