Over time, new research can lead to changes in cancer screening recommendations for people who have pathogenic variants (also known as mutations) in genes linked to cancer. A recent example of this is the BARD1 gene.
Previous research suggested that pathogenic variants in the BARD1 gene could cause an increased risk for breast cancer. For a time, no specialized screening recommendations were available for people with BARD1 pathogenic variants because the link remained uncertain. Recent research has provided more evidence linking BARD1 and breast cancer risk, particularly for triple-negative (ER, PR, and HER-2) breast cancer.
In light of this new evidence, the National Comprehensive Cancer Network (NCCN) now recommends that those with a BARD1 pathogenic variant consider annual breast MRIs in addition to regular annual mammograms starting at age 40.
While this new information may change cancer screening recommendations for those with a BARD1 pathogenic variant, some uncertainty remains. More research is needed to better understand the lifetime breast cancer risk for people with BARD1 pathogenic variants.
If you would like to schedule an appointment with a genetic counselor to discuss how advances in cancer genetics may change your care or to discuss the option of genetic testing, please contact the Center for Cancer Risk Assessment at 617-724-1971.