Genetic testing for breast cancer

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Genetic testing for breast cancer

Events in personal lives of celebrities make news and often bring issues to the forefront for the rest of us; Angelina Jolie’s prophylactic bilateral mastectomy certainly did this.  Fortunately, advances in medical technology enable us to better identify those at risk for certain diseases.  This includes identification of women at elevated risk over the general population for breast cancer.

Breast cancer touches all of our lives in some way.  One in 8 women develop breast cancer and over 230,000 cases of invasive breast cancer are diagnosed annually in the United States.  Five to 10% of these breast cancers are linked to an inherited genetic mutation. BRCA-1 and BRCA-2 (BReast CAncer 1 and 2) are the best-known  genes linked to breast cancer.  Two tumor suppressor genes, BRCA1 and BRCA2 (BReast CAncer 1 and 2), are the best-known genes linked to breast cancer.  Mutations of these genes permit uncontrolled cell growth.

Carrying one of these two harmful mutation increases a women’s risk of developing breast cancer by about 5 times.  Approximately 60% of these women develop breast cancer in their lifetime.

However, genetic testing is recommended only for those with:*

  • A personal history of breast cancer and a known individual within the family positive for BRCA 1or 2
  • A personal history of breast cancer at age 50 or younger
  • A personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2/neu receptor-negative
  • A personal or family history of cancer in both breasts or two separate cancers in the same breast
  • A personal history of breast cancer and one or more close relatives with breast cancer at age 50 or younger or with ovarian cancer at any age, or two or more close relatives with breast cancer and/or pancreatic cancer at any age
  • One or more first- or second-degree relative diagnosed with breast cancer at age 45 or younger
  • One or more relatives form the same side of the family diagnosed with ovarian cancer
  • A family history of both breast and ovarian cancers on the same side of the family (either mother’s or father’s side of the family)
  • Ashkenazi Jewish heritage and a family history of breast or ovarian cancer
  • A personal history of ovarian cancer
  • A personal or family history of male breast cancer

Genetic counseling is recommended to explore family history, assess personal risk and determine if direct testing for BRCA mutations is needed. Those identified at elevated risk for breast cancer should seek consultation with a medical oncologist to examine risk reduction strategies. These include chemoprevention – using drugs including tamoxifen, raloxifene or exemestane to lower the risk – increased surveillance (imaging), and prophylactic mastectomy.

Many health insurance plans cover the cost of genetic counseling and testing.  The Affordable Care Act (health care reform) requires coverage of these costs when recommended by a provider.  It also requires coverage of counseling to help with decision making for those found to have a BRCA1 or BRCA2 mutation.

Federal and state laws provide protection against discrimination in employment or health insurance based on results of genetic testing.  However, this protection does not extend to life insurance, disability insurance or long-term care insurance.

*From the National Comprehensive Cancer Network (NCCN). NCCN Clinical Practice Guidelines in Oncology: Genetic/familial high-risk assessment: Breast and ovarian, Version 2.2013, 2013.



About the Author:

Dr. Lepine earned her medical degree from the University of California at San Diego and completed her residency at the same institution in 1994. After residency, she pursued her interests in public health and international medicine through a fellowship in the Epidemic Intelligence Service at the Centers for Disease Control and Prevention. Education and advocacy for women, particularly the under-served, has always been at the heart of her work. She has participated in both public health and clinical work in the developing world, including Rwanda, Kenya, Mexico, Bangladesh, Honduras, and Nicaragua.

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