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.
QIMR Home Page
GenEpi Home Page
Publications
Contacts
Research
Staff Index
Collaborators
Software Tools
Computing Resources
Studies
Search
GenEpi Intranet
PMID
12883368
TITLE
Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study.
ABSTRACT
Germline variants in the melanocortin 1 receptor gene (MC1R) and the p16 gene (CDKN2A) are associated with an increased risk of cutaneous melanoma. The frequency of these germline variants was examined in a population-based, incident series of 62 ocular melanoma cases and ethnicity-matched population controls. In both cases and controls, 59% of individuals carried at least one MC1R variant and there were no significant differences in the frequency of any of the five most common variants of MC1R. We also found no significant differences between cases and controls in the frequency of any of the four most common variants of CDKN2A, and no melanoma case carried a deleterious germline CDKN2A mutation. Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma.
DATE PUBLISHED
2003 Aug
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2003/07/29 05:00
medline 2003/12/03 05:00
entrez 2003/07/29 05:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Vajdic C Vajdic C C National Centre for HIV Epidemiology and Clinical Research, Darlinghurst, NSW, Australia.
Kricker A Kricker A A
Duffy DL Duffy D L DL
Aitken JF Aitken J F JF
Stark M Stark M M
ter Huurne JA ter Huurne J A C JA
Martin NG Martin N G NG
Armstrong BK Armstrong B K BK
Hayward NK Hayward N K NK
INVESTIGATORS
JOURNAL
VOLUME: 13
ISSUE: 4
TITLE: Melanoma research
ISOABBREVIATION: Melanoma Res.
YEAR: 2003
MONTH: Aug
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0960-8931
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Melanoma Res
COUNTRY: England
ISSNLINKING: 0960-8931
NLMUNIQUEID: 9109623
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
CA88363 NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Aged
Case-Control Studies
Chi-Square Distribution
DNA, Neoplasm genetics
Eye Neoplasms genetics
Genes, p16 genetics
Genetics, Population genetics
Germ-Line Mutation genetics
Humans genetics
Melanoma genetics
Middle Aged genetics
Polymorphism, Genetic genetics
Prevalence genetics
Receptor, Melanocortin, Type 1 genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 DNA, Neoplasm
0 Receptor, Melanocortin, Type 1
OTHER ID's