Approximately 1 in 75 people in North America will develop melanoma, and the presence of 1 or more of the following increases the risk 10-fold: atypical moles, more than 100 typical moles, or a family history of 2 first-degree relatives with melanoma. Five percent to 12% of melanomas occur in individuals with a familial predisposition, but not all are part of a hereditary melanoma syndrome. Two genes, cyclin-dependent kinase (CDK) inhibitor 2A and CDK4, account for up to half the cases of hereditary melanoma. Mutations in these genes are associated with a substantial lifetime risk of melanoma.
Bottom line. High-risk families can be offered referral for genetic counseling. Although genetic testing is available, there is a lack of consensus on how results should alter clinical recommendations. Melanoma prevention and surveillance recommendations should be based on the patient’s personal and family history.
The complete Gene Messenger—Familial Melanoma by the GenetiKit research team is available on CFPlus.* Past Gene Messenger articles can be accessed on-line at www.cfp.ca. On the home page, click on Collections in the left-hand menu, then click on Genetics.
Acknowledgments
Funding was provided by the Canadian Institutes of Health Research.
Footnotes
Competing interests
None declared
The GenetiKit research team, a group of family physicians, genetic counselors and geneticists, designed the Gene Messenger series to provide practical information to help family physicians and their patients make informed choices about rapidly emerging genetic discoveries. The series is a collection of up-to-date, definitive, short reviews on genetics topics that have made headlines, and offers recommendations regarding referral for genetic services or testing.
The Gene Messenger on familial melanoma is available at www.cfp.ca. Go to the full text of this article on-line, then click on CFPlus in the menu at the top right-hand side of the page.