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 5-10% 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. Learn more about melanoma.
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% 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.
Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. As a Stanford Health Care patient, you may have access to the latest, advanced clinical trials.
Open trials refer to studies currently accepting participants. Closed trials are not currently enrolling, but may open in the future.