According to new recommendations, more women should be assessed for BRCA1 and BRCA2 - the harmful mutations in the genes that can increase risk of certain cancers.
Previously, it was recommended for women who have a family history of breast, ovarian, tubal or peritoneal cancer to be assessed for harmful BRCA1 or BRCA2 mutations. But now it is recommended for women who personally have been diagnosed with breast, ovarian or tubal cancer in the past but completed treatment and are considered "cancer free," and those who have certain ancestries associated with BRCA1 or BRCA2 mutations, such as being of Ashkenazi Jewish descent. Routine risk assessment is not recommended for women whose personal history, family history or ancestry does not suggest the possible presence of harmful BRCA1 or BRCA2 mutations.
The final updated recommendation statement published in the medical journal JAMA on Tuesday.
It's important for women to realize that, even though breast cancer is the second-most common cancer in women, that these mutations are actually pretty rare. In the general population, BRCA1 and BRCA2 mutations occur in an estimated 1 in 300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases.
What Does The Screening Process Involve?
The updated recommendation notes that for women who are recommended for screening for BRCA1 or BRCA2 mutations, that genetic risk assessment and BRCA mutation testing is a multi-step process, which typically begins with assessing risk at a visit with a primary care doctor.
The risk assessment tool helps first to identify patients with family or personal histories of breast, ovarian, tubal or peritoneal cancer, or ancestry associated with harmful BRCA1 or BRCA2 mutations. That assessment helps to determine whether the patient should then undergo genetic counseling, which can further evaluate risk, followed by genetic testing.
Some women found to have harmful BRCA1 or BRCA2 mutations might then choose to take additional steps to lower their cancer risk, such as undergoing intensive screening, taking risk-reducing medications or undergoing risk-reducing surgeries.
Primary care clinicians should assess women with a personal or family history of breast, ovarian, tubal or peritoneal cancer for possible BRCA1 or BRCA2 mutations.