BRCA Gene Testing

 
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Genetic testing for hereditary breast and ovarian cancer looks for mutations in the BRCA1 and BRCA2 genes. This test provides a way to detect how vulnerable women are to certain inherited diseases or cancers.

“BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of each cell’s genetic material. When either of these genes is mutated or altered, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer,” according to the National Cancer Institute.

BRCA gene testing is a highly valuable resource for women who want to know their level of risk for breast and ovarian cancer. The National Cancer Institute reports that nearly 12% of women will develop breast cancer during their lifetime, and 55-65% of those with a BRCA1 mutation and 45% of women with a BRCA2 mutation will develop breast cancer. The information acquired from BRCA gene testing can give women and their doctors invaluable information regarding their health.

While just about everyone can undergo genetic testing, these tests are not recommended for everyone. It is important to note that most insurance providers will not cover the cost of BRCA gene testing unless you meet specific criteria:

  • A personal history of breast cancer, diagnosed before the age of 50
  • A family history of women who have had both breast and ovarian cancer
  • A personal history of triple-negative breast cancer diagnosed younger than 60
  • A personal history of bilateral breast cancer (cancer affecting both breasts)
  • A personal history of ovarian cancer
  • A personal history of both breast cancer and ovarian cancer
  • A male relative with breast cancer
  • A family member with bilateral breast cancer
  • A relative with a known BRCA1 or BRCA2 mutation
  • Eastern European Jewish ancestry, with a close relative who has breast, ovarian, or pancreatic cancer at any age

While these stipulations may lead you to believe that BRCA gene testing is a complicated process, the truth is that it involves a simple blood test.

Women who test positive for a gene mutation are not guaranteed to get cancer. It merely means that they have a greater risk than the general population. However, for those with a positive test for gene mutation, their physicians may suggest more frequent mammograms or screenings. Some women even choose to have an elected mastectomy or other surgical treatment to avoid the potential of cancer. This decision requires a lot of information, talking with your family members, and speaking with your doctor to understand the implications of a significant surgery.

At Marietta OB/GYN Affiliates, P.A., we take a strong, proactive approach when it comes to women’s health. We are committed to providing the tools, testing, and resources necessary to ensure that women have pertinent information regarding their health.

To learn more about BRCA gene testing, contact our practice.

Posted on behalf of Dr. Carlos Alarcon, Marietta OB-GYN Affiliates, P.A.