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
16354196
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%.
DATE PUBLISHED
2005 Dec
HISTORY
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
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
KEYWORDS
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
OTHER ID's