The Melanoma Comprehensive Panel examines 14 genes associated with an increased risk for melanoma. This test includes both well-established melanoma susceptibility genes, as well as candidate genes with limited evidence of an association.
Who is this test for?
Patients with a personal or family history suggestive of a hereditary melanoma syndrome. Red flags for hereditary cancer could include onset of cancer prior to the age of 50 years, more than one primary cancer in a single person, and multiple affected people within a family. The presence of more than one melanoma in first or second degree relatives, as well as the presence of astrocytoma or breast, colon, ovarian, pancreatic or prostate cancer in a patient’s clinical or family history indicate that genetic testing for a hereditary melanoma syndrome may be warranted (PubMed: 28283772). After consideration of a patient’s clinical and family history, this testing may be appropriate for some pediatric patients as preventative steps may be warranted in childhood. (If there are specific genes that you do NOT want included, please indicate this on the test requisition form.) This test is designed to detect individuals with a germline pathogenic variant, and is not validated to detect mosaicism below the level of 20%. It should not be ordered on tumor tissue.
What are the potential benefits for my patient?
Highly penetrant genes are responsible for approximately 45% of familial melanoma cases, with the remainder likely influenced by lower penetrant genes and environmental or other risk factors (PubMed: 28283772). Patients identified with a hereditary melanoma syndrome can benefit from increased surveillance and preventative steps to better manage their risk for cancer. Information obtained from candidate gene testing may potentially be helpful in guiding clinical management in the future. Also, if an inherited susceptibility is found, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.