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Nearly Half of Diagnosed Women at High Risk for Abnormal BRCA Genes Not Sent for Testing

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A study has found that only 53% of women newly diagnosed with breast cancer who were at high risk of having an abnormal BRCA1 or BRCA2 gene were recommended to be tested for the abnormal genes. The women were at high risk for an abnormal BRCA gene because of age, cancer diagnosis, and family history of breast or ovarian cancer.

The study was presented at the 2013 American Association for Cancer Research Annual Meeting. Read the abstract of “Are physician recommendations for BRCA1/2 testing among breast cancer patients appropriate? A population based study.”

Most inherited cases of breast cancer are associated with one of two abnormal genes: BRCA1 (BReast CAncer gene one) or BRCA2 (BReast CAncer gene two).

Women with a BRCA1 or BRCA2 genetic mutation:

  • have up to a 72% lifetime risk of developing breast cancer
  • have a much higher-than-average lifetime risk of ovarian cancer; estimates range from 17% to 44%

U.S. guidelines say that BRCA testing should be considered when:

  • many women in a family have been diagnosed with breast and/or ovarian cancer, particularly if the women were younger than 50 when diagnosed
  • some women in a family have been diagnosed with cancer in both breasts
  • there is both breast and ovarian cancer in a family
  • men in a family have been diagnosed with breast cancer
  • there is breast cancer in a family and either male relatives on the same side of the family have been diagnosed with prostate cancer at a young age or relatives on the same side of the family have been diagnosed with gastrointestinal cancers, such as pancreas, gall bladder, or stomach cancer
  • a family is of Ashkenazi (Eastern European) Jewish descent

In this study, 2,258 Pennsylvania women ages 18 to 64 who were diagnosed with breast cancer in 2007 filled out a survey on family history of cancer, their doctors’ treatment recommendations, and genetic testing for abnormal BRCA1 and BRCA2 genes.

Base on their age when they were diagnosed with breast cancer and their family history, the women were classified as high, moderate, or low risk for having abnormal BRCA1 or BRCA2 genes. Nearly 25% of the women were considered to be at high risk.

Still, only 53% of these women said that their doctors had referred them for genetic testing. Women were less likely to be referred for genetic testing if they were older, had a low income level, and had a job.

These results suggest that many high-risk women who should have genetic testing aren't having that screening done. This is troubling. Women with an abnormal breast cancer gene have a number of options to reduce breast cancer risk and the risk of breast cancer coming back (recurrence), as well as ways to detect any cancer that develops early, when it's most treatable. These risk reduction steps include:

  • a more aggressive screening plan starting at an earlier age
  • hormonal therapy to block the effect of estrogen on breast tissue or reduce the amount of estrogen in the body
  • removing the healthy breasts (prophylactic mastectomy)

Some women with an abnormal BRCA1 or BRCA2 gene also may consider having healthy ovaries removed because of the increase in ovarian cancer risk. Removing the ovaries also dramatically lowers estrogen levels and lower estrogen levels can reduce the risk of hormone-receptor-positive breast cancer.

Knowing that a woman has an abnormal BRCA1 or BRCA2 gene also is important information for the other women and men in her immediate family to have; they also may be carriers and at a higher risk of cancer.

The Gail score is a standard breast cancer risk assessment tool that assesses breast cancer risk based on a series of personal health questions that women and their doctors answer together. The questions ask about risk factors such as age, child-bearing history, family history of breast cancer, and breast biopsy results. The Gail score estimates the risk of developing invasive breast cancer in the next 5 years. If you think you may be at high risk for breast cancer, you might want to talk to your doctor about your personal and family medical history. You may want to ask your doctor to consider calculating your Gail score and then talk about what it means. You also may want to ask your doctor if genetic testing or a referral to a genetic counselor makes sense for you.

For more information, visit the Genetic Testing pages.

Editor’s Note: This article was updated on Jan. 24, 2019, with updated information on cancer risk associated with BRCA mutations.

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