alexa Genetic Counseling and Testing for Hereditary Melanoma: An Updated Guide for Dermatologists
ISSN: 2161-1041

Hereditary Genetics: Current Research
Open Access

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Review Article

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

Marjan Champine*, Wendy Kohlmann and Sancy A Leachman

Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA

*Corresponding Author:
Marjan Champine, MS
Huntsman Cancer Institute
University of Utah
2000 Circle of Hope Dr
Salt Lake City, UT 84112, USA
E-mail: [email protected]

Received Date: April 04, 2013; Accepted Date: June 13, 2013; Published Date: June 24, 2013

Citation: Champine M, Kohlmann W, Leachman SA (2013) Genetic Counseling and Testing for Hereditary Melanoma: An Updated Guide for Dermatologists. Genetics S2:004. doi: 10.4172/2161-1041.S2-004

Copyright: © 2013 Champine M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



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.

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