Age-Specific Risk in Women with BRCA1 and BRCA2 Mutations

(June 30, 2017) Ten thousand women, most of whom are BRCA1 or BRCA2 positive, were analyzed by the University of Cambridge in order to find age specific risk for breast and ovarian cancers. The goal of the study, which was published in the Journal of the American Medical Association (JAMA), was to better enable clinicians to estimate the benefit of risk reducing or preventive strategies, and in the case of breast cancer, when to begin cancer screening.

After following the study group for several years, 426 of the women developed breast cancer, 109 developed ovarian cancer, and 245 developed contralateral breast cancer. They found that the cumulative ovarian cancer risk to 80 years of age of 44 percent for BRCA1 and 17 percent for BRCA2 carriers and that cancer risk varied by mutation location within the BRCA1 or BRCA2 gene.

“The results indicate that family history is a strong risk factor for mutation carriers and that cancer risks vary by mutation location, suggesting that individualized counseling should incorporate both family history profiles and mutation location,” state the authors of the study.

Here is a full list of findings and a summary of the study.

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