A Loss-of-Function Variant Related to Telomere Maintenance May Predispose to Familial Melanoma

Investigators seek to identify new high-penetrance susceptibility genes.

The biology of telomeres appears to have taken on new importance in melanoma. Recently, a germline promoter variant in the telomerase (TERT) gene was found to confer strong familial risk for melanoma in a German family. Widespread somatic mutations in the same region have been identified in a high percentage of melanoma tissue specimens. Investigators of two recent studies report mutations in POT1, a component of the telomere-sheltering complex.

Around half of familial melanoma cases can be attributed to variants in known predisposition genes, principally CDKN2A. Robles-Espinoza and colleagues examined 184 melanoma cases from 105 families without melanoma-associated variants in CDKN2A and CDK4 to identify new high-penetrance susceptibility g…

Reviewing Author

Hensin Tsao, MD, PhD

Disclosures

Consultant / advisory board Lubax; WorldCare Clinical

EquityLubax

Grant / Research support NIH; Department of Defense; American Skin Association; Piramal

Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology

Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)