BRCA Mutations More Prevalent in Postmenopausal Women Than Previously Thought

An interesting breast cancer study published in JAMA, The Journal of the American Medical Association in March of this year and conducted by Allison W. Kurian from Stanford, showed that 3.55% of postmenopausal women in their study – who had no previous history of breast cancer in their families that would warrant a genetic test – tested positive for a gene mutation.

I first read about this on breastcancer.org, BRCA Mutations More Common Than Thought in Older Women Diagnosed With Breast Cancer. Of the 4,517 women in the breast cancer analysis (who were part of the Women’s Healthy Initiative of over 161,000 women), 2,195 were diagnosed during the WHI study and 2,322 were not. Of the women who were diagnosed, genetic mutations were found in 241 women of which 148 had been diagnosed with breast cancer – which translates into 3.55% vs. 1.29% who had not been diagnosed.

Results from Kurian’s study (Kurian, 2020):

These data on the prevalence of PVs [pathogenic variants] in breast cancer susceptibility genes among postmenopausal women should inform testing guidelines. Among postmenopausal patients with breast cancer, PV prevalence may be high enough to warrant testing even in the absence of early diagnosis age or family history.

Why is this study important?

Not everyone who has breast cancer needs to be genetically tested for a genetic link. Not all women with breast cancer meet the NCCN guidelines for genetic assessment (pdf link). But, this study shows that women who have no previous link to breast cancer to warrant a genetic test, indeed tested positive to a pathological variant. Perhaps guidelines for genetic screening may open up to more women in the future, or like women susceptible in the study, so they may make more informed choices about their type of cancer and cancer recurrences.

Image from Unsplash.com.

Sources and the full abstract of the research:

DePolo, Jamie. “BRCA Mutations More Common Than Thought in Older Women Diagnosed With Breast Cancer.” Breastcancer.org, Breastcancer.org, 20 Mar. 2020, www.breastcancer.org/research-news/brca-mutations-more-common-in-older-dx-women.

Kurian AW, Bernhisel R, Larson K, et al. Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer. JAMA. 2020;323(10):995–997. doi:10.1001/jama.2020.0229