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Genetics and Breast Cancer: What you need to know

Posted by Allison DiPasquale, MD on May 26, 2016 3:32:35 PM


It’s been 20 years since scientists discovered the BRCA1 gene and its link to breast cancer. In the decades that followed, we’ve learned so much more about genes that are associated with the disease. This knowledge is helping patients — women and men — better understand their risk for breast and other forms of cancer.

In this blog, I’ll be explaining the genetic link to breast and other forms of cancer and dispelling some common myths often associated with it. In the next blog, I’ll describe surgical options for breast cancer and the latest advancement in technology that improves cosmetic outcomes.

Beyond BRCA

While most of us have heard of the BRCA1 and BRCA2 genes that are associated with breast cancer, there are actually dozens more including genes like PALB2, ATM, and CHEK1/2. This means patients have to give their primary care doctor or gynecologist a complete family history of cancers that run the in the family, not just breast or ovarian cancers. Men too.

The BRCA2 gene, for example, is linked to early onset prostate and breast cancer in men. It’s as important for men with these diseases to get tested because they can pass the gene on to their children.

Who should get genetic testing

After a diagnosis of cancer, patients should be tested if they have any of the following:

  1. Known BRCA gene deleterious mutation in the family
  2. Personal history of breast cancer diagnosed at or before 45 years old
  3. Personal history of breast cancer diagnosed at or before 50 years old with:
    1. An additional breast cancer at the same time (both breasts have cancer or 2 separate areas in the same breast)
    2. 1st degree relative with breast cancer diagnosed at or before age 50
    3. 2 or more 1st degree relatives with breast cancer at any age
    4. 1st degree relative with prostate cancer
    5. An UNKNOWN family history
  4. Personal history of breast cancer and Ashkenazi Jewish heritage (central or eastern European)
  5. Triple-negative breast cancer in a patient younger than 60
  6. Personal or family history of ovarian cancer
  7. Personal or family history of male breast cancer

There are some occasions when insurance carriers will pay for genetic testing for someone who has not been diagnosed with cancer. This includes women with a strong family history of breast cancer seen in multiple first degree relatives, or if all the family members that have had cancer have already passed away leaving only the unaffected individual to be tested. The important message here is to make sure to discuss your family history with your physician.

What you do if you have breast cancer and a genetic mutation

The type of surgery depends on the type of mutation and type of cancer as well as the extent of disease seen at diagnosis.

BRCA. The type of cancer associated with BRCA mutations is usually aggressive and has a higher risk of being in both breasts and possibly recurring in the future.

 Patients could choose to remove both breasts and have breast reconstruction surgery.

  • Patients who prefer breast-conservation surgery would qualify for high-risk monitoring — an imaging scan every six months, alternating between a mammogram and an MRI scan — which is an effective way to catch a return of the cancer in an early stage when it’s curable.

Because the BRCA gene is highly linked to ovarian cancer and there is no reliable screening for finding the disease in an early stage, thus there are guidelines that recommend surgically removing or ablating the ovaries after the patient is finished having children. (Ovarian ablation stops the ovaries from producing estrogen and lowers estrogen levels in the body.)

Other genes. BRCA and some of the genes associated with the BRCA gene are the only genes that have data that clearly show a benefit to removing both breasts.

With other gene mutations, there is no data that shows that removal of the cancerous breast will help patients live longer, and the benefit of removing the noncancerous breast is low. These women could choose breast-conservation surgery combined with high-risk monitoring.

Let’s dispel some common myths

You are a genetic carrier for breast cancer if your mom had breast cancer.
FALSE. Many patients think that because their mom had breast cancer, they must carry the gene for cancer. This isn’t true. Only about 5 percent to 10 percent of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child.

If you have breast cancer, you have to remove both breasts.
FALSE. Only people who truly have a genetic mutation for BRCA benefit from removing both breasts. In fact, if a patient is negative for BRCA, the benefit to removing both breasts is low, and there is no data to show that a mastectomy will help a patient live longer.

You live longer if you remove both breasts.
FALSE. There is no medical data that shows patients live longer when both breasts are removed. High-risk monitoring has shown to be an effective way to screen women who are at high risk for developing breast cancer.

Methodist Charlton Breast Center

Texas law prohibits hospitals from practicing medicine. The physicians on the Methodist Health System medical staff are independent practitioners who are not employees or agents of Methodist Health System.

DiPasquale.pngDr. DiPasquale is dedicated to the treatment and cure of breast cancer. Her commitment is personal having experienced her own family members being affected by the disease. As a result, she sought fellowship training to specialize in breast surgical oncology and practices oncoplastic reconstruction of the breast to leave both the patient and the breast with minimal reminders of cancer. Dr. DiPasquale's research interests include triple negative breast cancer, intraoperative radiation, and leading-edge techniques to improve the appearance of the breast after surgery. Dr. DiPasquale is board certified in general surgery. She completed the Surgical Society of Oncology Breast Fellowship at City of Hope National Cancer Center in Duarte, California; her residency in general surgery at Lahey Clinical Hospital in Burlington, Massachusetts, where she was chief resident and chief of curriculum; and her medical degree at St. George’s University School of Medicine.


Topics: Wellness

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