Genetic Testing

Does my family have a melanoma gene?

Genetic testing allows us to test a person’s blood to see if they carry a mutation in their genes which puts them and their family at higher risk for melanoma skin cancer.

Approximately 10% of all melanomas are caused by a genetic mutation in a person’s genome. The most commonly tested mutation is CDKN2A. If you have this mutation, you carry about a 40% chance of developing a melanoma skin cancer.

Genetic Testing Recommended- YES 3 melanomas in 1 person
YES 3 cases melanoma between 1st or 2nd degree relatives
YES 2 cases melanoma and 1 case of pancreatic cancer between 1st or 2nd degree relatives
YES 1 case of melanoma and 2 cases of pancreatic cancer between 1st or 2nd degree relatives

www.genetests.org

Do I really have melanoma?

Sometimes it can be difficult to diagnoses melanoma based on the pathology results alone.
CGH (Comparative Genetic Hybridization) and Fluorescence In Situ Hybridization (FISH) are genetic tests that can be performed on a melanoma tumor to help make the correct diagnosis.
Sixty four percent of melanomas lose a part of their DNA located at the 9p location; while 37% of melanomas gain DNA at the 6p part of their DNA.
Looking for these extra or lost copies of DNA can help to tell melanoma apart from a mole.

These tests can be performed by specialty laboratories and must be ordered by a physician. It may be reasonable to order this extra testing if your diagnosis is in question.

A diagnosis may be in question especially when it is diagnosed in a child or even a young adult. One of the procedures used to stage a melanoma involves checking the lymph nodes for spread of the melanoma (sentinel lymph node biopsy). This procedure is safe, but patients can have complications including infection, delayed healing, and permanent lymphedema or swelling of a limb. For these reasons, we would want to avoid this procedure in a child or young adult unless absolutely necessary.