遗传遗传学：当前研究

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Genetic Counseling and Testing for Hereditary Melanoma: An Updated Guide for Dermatologists

Marjan Champine, Wendy Kohlmann and Sancy A Leachman

Melanoma is a multifactorial disease with environmental exposure, phenotype, and in rare cases, cancer predisposition genes each contributing to an individual's risk. Approximately 10% of melanomas occur in familial clusters, and germline mutations in CDKN2A account for 20-40% of families at high risk for this cancer. Dermatologists play a key role in identifying patients who may have an inherited risk for melanoma and in offering them appropriate genetic counseling and testing services. Identifying high-risk families permits patients and their at-risk relatives to benefit from tailored screening recommendations and risk reducing strategies. Incorporating risk assessment and appropriate pre- and post-test counseling into routine clinical practice can be challenging; therefore, partnerships with genetic counseling resources are necessary. Genetic counselors are trained to assess cancer risk, provide personalized risk assessment and management recommendations, and counsel patients regarding the ethical and psychosocial implications of genetic testing. This review will provide an updated guide for dermatologists regarding factors to consider in melanoma risk assessment including environmental exposure, phenotype, and genetic status. We will also discuss the process and potential outcomes of genetic testing for hereditary melanoma in high-risk families.