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The Role that Genetic Testing Plays in Early Breast Cancer Detection

What do I need to know about genetics and breast cancer? Should I get genetic testing? If you could find out your risk for breast or ovarian cancer by testing your genetic make-up, would you do it? Is genetic testing something every woman should have?

Susan Branton, MD, FACS, Medical Director and Renee Quarterman, MD, FACS, breast surgeons with Susquehanna Health’s Breast Health Center, offer suggestions to help you determine what’s best for your breast health.

Q: What role do genes play in breast cancer?

A: Knowing your family history helps you understand your risk for breast cancer. Every living being has a genetic code, a combination of their parents’ genes, which makes them unique. Mutations (changes) in certain genes can make it more likely for cells to become cancerous. Specific mutations of the BRCA1 and BRCA2 genes are linked to breast, ovarian and other types of cancer.

Q: Should everyone be tested for the BRCA1 and BRCA2 genes?

A: No, not everyone needs to be tested. Your family medical history is a good indicator of whether you have the gene mutation. WHO in your family had breast or ovarian cancer and their AGE at diagnosis are important. Try to get histories for three generations before you. Having ovarian cancer at any age raises the question of a genetic mutation. Other conditions possibly linked with genetic mutations include cancers of the pancreas, thyroid, colon, bones and soft tissue as well as melanoma.

The BRCA gene mutations are also more prevalent in people with Ashkenazi Jewish ancestry. Sometimes women are concerned about their risks if a female relative had breast cancer after menopause. Commonly, this history does not increase breast cancer risk and does not imply a genetic mutation, but it is still important to record. Also, cervical, endometrial and uterine cancers are important to keep track of, but are rarely suggestive of a genetic mutation.

Q: At what age should a woman think about her genetic risk for breast cancer?

A: At age 18, when a person becomes a legal adult, is the earliest age to consider breast cancer risk. See your doctor to discuss your details including your ethnicity, whether you’ve had any cancers and your family history. If your doctor believes it’s indicated, the next step is to talk to a genetic counselor about testing—a simple mouth swab or blood test. Older women, who have survived ovarian or breast cancer, may consider having genetic testing to make other relatives and younger generations aware of whether or not a genetic mutation exists.

Q: What if I have the BRCA1 or BRCA2 mutation?

A: Finding the genetic mutation is very rare, but if it is present, there are ways to reduce your cancer risks. The priority is eliminating the risk for ovarian cancer because it doesn’t produce symptoms until it is very advanced. For women who are through childbearing, removal of the ovaries and fallopian tubes is very effective—reducing your risks for ovarian cancer by 90 percent and for breast cancer by 50 percent. To reduce the risk of breast cancer, closely managed screenings every six months are very effective, as is the use of certain medications. Preventive mastectomy reduces the risk by 95 percent.

Q: If I test negative for the genes, or there’s no family history, do I even have to think about breast cancer?

A: Genetic mutations are responsible for just five percent of all breast cancer cases. There are other risk factors that can lead to the condition—age at menses, age at first childbirth, weight and lifestyle are all factors. The best way for women who do not have a family history to detect breast cancer at its earliest stage is through screening mammograms.