Melanoma Associated with BRCA 1 and BRCA 2?


BRCA 1 and BRCA 2 are two very well known genetic variants when it comes to hereditary cancers. Mutation within these genes places a person at increased risk for breast and ovarian cancer. They have even been known to be one of the risk factors for prostate cancer. BRCA 1 and 2 are members of a class of tumor suppressor genes that preserve chromosome stability. In other words, cells that lack one or both of these genes are unable to repair breaks in the DNA via homologous recombination. The DNA can still be repaired, but not in the preferable way (homologous recombination.)

All of this means that patients with the BRCA 1 and/or BRCA 2 mutations lack the maintenance genes that are best utilized in fixing mistakes as the cells replicate. For these mutations, the problem manifests in genetic risks for breast cancer, ovarian cancer, and prostate cancer. However, some studies have shown that the BRCA 1 and/or BRCA 2 mutations may be associated with skin cancers.

Melanoma is the deadliest form of skin cancer. It begins in the melanocytes. Melanomas (tumors indicating the cancer type) typically form on the UV exposed chest and back. However, melanomas can form on any part of the body including the palms of the hands, soles of the feet, under nails, and even in the eyes or the genital area. The dangerous part about melanoma is that it is much more likely to spread to other parts of the body if not caught early.

Symptoms of melanoma include any change in the skin. Most notable of these changes include a new growth, a sore that doesn’t heal, or a change in a mole. A mole on its own is a small growth on the skin. These are normally benign and are either embraced as “beauty marks,” or they are removed for cosmetic reasons or in some cases to biopsy for signs of cancer. For any moles or growths on the skin that could be cancerous, they can have an irregular shape, uneven color, or even larger than normal. If the mole actually changes in size or shape over a period of weeks or months, that is also a sign for concern.

Typically, melanoma is genetically linked to a mutation of the CDKN2A gene. It is also a tumor suppressing gene. It is responsible for holding damaged cells during the cell cycle and allowing those cells to enter into DNA repair. BRCA 1 has only been associated with a few published cases of melanoma. BRCA 2 has a greater association, but still nothing yet definitive to suggest a link.

For patients that are determined to have a BRCA 1 and/or BRCA 2 variant, they will receive recommendations for all kinds of behaviors to mitigate the risk of breast cancer and ovarian/prostate cancer. Some may include surgical options such as a mastectomy or a hysterectomy. While considering these options, it is also suggested to consider monthly skin self exams and an increased effort for sun protection including staying in the shade more often and wearing sunscreen.

To determine if you are at a genetic risk for Hereditary Cancer, please ask your doctor about LabSolutions PREDICT today!