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The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study.
- Source :
-
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology [Cancer Epidemiol Biomarkers Prev] 2006 Aug; Vol. 15 (8), pp. 1520-5. - Publication Year :
- 2006
-
Abstract
- Germ-line mutations of CDKN2A have been identified as strong risk factors for melanoma in studies of multiple-case families. However, an assessment of their relative risk for melanoma in the general population has been difficult because they occur infrequently. We addressed this issue using a novel population-based case-control study design in which "cases" have incident second- or higher-order melanomas [multiple primary melanoma (MPM)] and "controls" have incident first primary melanoma [single primary melanoma (SPM)]. Participants were ascertained from nine geographic regions in Australia, Canada, Italy, and United States. In the 1,189 MPM cases and 2,424 SPM controls who were eligible and available for analysis, the relative risk of a subsequent melanoma among patients with functional mutations who have an existing diagnosis of melanoma, after adjustments for age, sex, center, and known phenotypic risk factors, is estimated to be 4.3 (95% confidence interval, 2.3-7.7). The odds ratio varied significantly depending on the type of mutation involved. The results suggest that the relative risk of mutation carriers in the population may be lower than currently believed and that different mutations on the CDKN2A gene may confer substantially different risks of melanoma.
- Subjects :
- Aged
Australia epidemiology
Canada epidemiology
Case-Control Studies
Chromatography, High Pressure Liquid
Exons genetics
Female
Humans
International Agencies
Introns genetics
Italy epidemiology
Male
Melanoma epidemiology
Middle Aged
Neoplasms, Multiple Primary epidemiology
Polymerase Chain Reaction
Polymorphism, Genetic
Skin Neoplasms epidemiology
United States epidemiology
Cyclin-Dependent Kinase Inhibitor p16 genetics
Germ-Line Mutation
Melanoma genetics
Neoplasms, Multiple Primary genetics
Skin Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1055-9965
- Volume :
- 15
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
- Publication Type :
- Academic Journal
- Accession number :
- 16896043
- Full Text :
- https://doi.org/10.1158/1055-9965.EPI-06-0270