The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: An international population-based study Journal Article
| Authors: | Berwick, M.; Orlow, I.; Hummer, A. J.; Armstrong, B. K.; Kricker, A.; Marrett, L. D.; Millikan, R. C.; Gruber, S. B.; Anton-Culver, H.; Zanetti, R.; Gallagher, R. P.; Dwyer, T.; Rebbeck, T. R.; Kanetsky, P. A.; Busam, K.; From, L.; Mujumdar, U.; Wilcox, H.; Begg, C. B. |
| Article Title: | The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: An international population-based study |
| 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 (SFM)]. 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. Copyright © 2006 American Association for Cancer Research. |
| Keywords: | adult; controlled study; aged; middle aged; unclassified drug; gene mutation; major clinical study; case-control studies; exons; cancer risk; united states; polymerase chain reaction; phenotype; demography; protein p16; melanoma; skin neoplasms; prevalence; introns; confidence interval; australia; chromatography, high pressure liquid; cyclin-dependent kinase inhibitor p16; canada; polymorphism, genetic; neoplasms, multiple primary; international agencies; germ-line mutation; heterozygote detection; population based case control study; geographic distribution; italy; protein cdkn2a |
| Journal Title: | Cancer Epidemiology Biomarkers and Prevention |
| Volume: | 15 |
| Issue: | 8 |
| ISSN: | 1055-9965 |
| Publisher: | American Association for Cancer Research |
| Date Published: | 2006-08-01 |
| Start Page: | 1520 |
| End Page: | 1525 |
| Language: | English |
| DOI: | 10.1158/1055-9965.epi-06-0270 |
| PUBMED: | 16896043 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 35" - "Export Date: 4 June 2012" - "CODEN: CEBPE" - "Source: Scopus" |
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