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Genetics and Health

Family History Key To Genetic Testing

by Hsien Hsien Lei, PhD on September 7th, 2005

Family history of breast or ovarian cancer is at the heart of new recommendations from the U.S. Preventive Services Task Force on genetic testing for mutations in the BRCA1 or BRCA2 genes, which increase the risk of both breast and ovarian cancers.

For women who are of Ashkenazi descent:

  • Two or more second-degree relatives on the same side of the family diagnosed with breast or ovarian cancer at any age.
  • One first-degree relative diagnosed with breast or ovarian cancer at any age.

For women who are not of Ashkenazi (Eastern European Jewish) descent:

  • Two first-degree relatives (mother, sister, daughter) with breast cancer, at least one of whom was diagnosed before age 50.
  • Three or more first- or second-degree (grandparent, aunt, cousin) relatives diagnosed with breast cancer at any age.
  • A first-degree relative with cancer in both breasts diagnosed at any age.
  • Two or more first- or second-degree relatives diagnosed with ovarian cancer at any age.
  • A male relative with breast cancer.

Approximately 1 in 50 American women have a family history of breast or ovarian cancer. In these women, only a small percentage carry a BRCA mutation. Carriers of a BRCA mutation have a 35 to 84 percent chance of developing breast cancer by age 70 and 10 to 50% chance of developing ovarian cancer.

Barbara Brenner, executive director of Breast Cancer Action in San Francisco, says, “This set of recommendations, which looks at all the research that’s available, says what we’ve been saying for a long time: The marketing of genetic testing is far too broad.

Makes you wonder what is driving the market for genetic testing - patients, healthcare providers, or corporate entities.

For more on the importance of knowing your family health history, please see my three-part series.

POSTED IN: Genetic Testing

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