Two Genes May Link Lynch Syndrome and Breast Cancer
Posted: Wednesday, February 14, 2018
A recent study determined that two genes known to cause Lynch syndrome—MSH6 and PMS2—may be associated with an increased risk for breast cancer. In fact, investigators from Columbia University Irving Medical Center and New York-Presbyterian claim that having one of these genes may double a woman’s risk of developing breast cancer by age 60. This study was published in Genetics in Medicine.
“People with Lynch syndrome aren’t thinking they may also be at risk for breast cancer,” stated Wendy K. Chung, MD, PhD, of Columbia University, in a press release. “Given the fact that genomic analysis is becoming more common in patients with a personal or family history of cancer, we have an opportunity to do more targeted breast cancer screening in women who carry any of the genes associated with risk for this disease.”
The investigators studied a database of more than 50,000 women who had had multigene hereditary cancer testing from 2013 to 2015. They performed a retrospective review of the personal and family histories of 423 of these women who had a mutation in 1 of 4 genes that cause Lynch syndrome: MLH1, MSH2, MSH6, or PMS2.
The age-standardized breast cancer risks for MSH6 and PMS2 were linked to a statistically significant risk for breast cancer; however, no such association was reported for MLH1 or MSH2. Dr. Chung and colleagues predicted that between 31% and 38% of women with pathogenic variants in MSH6 and PMS2 will develop breast cancer, compared with approximately 15% of women in the general population.
