Study Suggests Importance of Screening For BRCA Gene Mutations

Its a drastic step to have surgery to remove ones breasts or ovaries solely because of a genetic risk of developing the disease in the future. So obviously, women and their doctors want to know exactly what benefits those preventative surgeries are likely to bring.

A new study of women with BRCA1 or BRCA2 gene mutations which raise the lifetime risk of breast cancer to between 56% and 84% and of ovarian cancer to anywhere from 10% to 63% found that those who had their ovaries and fallopian tubes removed were less likely to die over the course of the study. (Median follow-up was around four years.) BRCA-positive women who had mastectomies had a lower risk of developing breast cancer than women who didnt.

Heres the Dow Jones Newswires story on the study, which was published in JAMA.

The findings underscore the importance of identifying women who are eligible to be screened for the mutations, write two breast cancer specialists in the editorial accompanying the study. Thats particularly important given that the new research shows that the earlier these procedures are performed, the better, they write. (Removing ovaries to reduce cancer risk is usually done after a woman finishes having children.)

Most of the time we see patients who have already been diagnosed with breast cancer, Virginia Kaklamani, co-author of the editorial and an associate professor and director of translational breast cancer research at Northwestern University, tells the Health Blog. Primary care doctors need to be aware of the red flags that indicate referral to a genetic counselor, she says.

If she has a family history of breast and/or ovarian cancer, especially if family members were diagnosed at a young age, shes a candidate for further discussion of testing, says Kaklamani. (The U.S. Preventive Services Task Force has a more detailed guide to family history patterns associated with BRCA mutations.)

Up until now, theres a sense that not all primary-care docs have been convinced of the benefits of hereditary risk assessment, the editorial says. Kaklamani says that in addition, patients or their family members are sometimes scared of being stigmatized.

Women who have BRCA mutations have options they can take the prophylactic surgery route or choose more intense surveillance, i.e. breast screening every six months, alternating mammography and ultrasound. High-risk women can also be screened for ovarian cancer using ultrasound and CA 125 testing, but those are of limited value, the editorial says. Still, information, says Kaklamani, can lead to more informed choices.

The reason we recommend testing is because theres something we can do about it, she says.

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This entry was posted on Monday, August 30th, 2010 at 12:38 am and is filed under Health Care. You can leave a response, or trackback from your own site.


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