Cancer Institute A national cancer institute
designated cancer center

The Genetics of Skin Cancer

Forty to 50 percent of Americans who live to the age of 65 will have skin cancer at least once. The most common types of skin cancer in the United States are basal cell and squamous cell carcinomas. These are referred to as nonmelanoma skin cancers and are generally the result of sun exposure.

Approximately one in 60 people will develop invasive, cutaneous melanoma during their lifetime. Malignant melanoma is a cancer that begins in the melanocytes, the pigment-producing cells in the skin. In fair-complexioned individuals worldwide, the majority of melanoma cases are related to environmental factors such as excessive ultraviolet radiation (sun exposure). However, about 5 percent to 10 percent of melanoma cases are inherited in an autosomal dominant fashion. In other words, parents with a defined genetic mutation have a 50/50 chance to pass on the susceptibility to each of their children regardless of gender.

One type of hereditary melanoma, called the familial atypical mole-melanoma syndrome (FAM-M syndrome), may be caused by mutations in the CDKN2A gene on chromosome 9, also known as the p16 mutation. This mutation may be present in up to 40 percent of the familial cases of melanoma, and testing for the p16 mutation should be considered in the setting of a strong family history of melanoma. Mutations in p16 result in unregulated cell growth. Persons with a p16 mutation have an increased lifetime risk of developing melanoma as well as a potentially increased risk of developing pancreatic cancer. At present, genetic testing for the p16 mutation should be performed only in the context of a clinical trial or through an established genetics clinic that allows for patient counseling and long term follow-up.

Stanford Medicine Resources:

Footer Links: