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New breast cancer genes discovered in Lynch syndrome study
During a study of Lynch syndrome risks, researchers identified two genes that, when mutated, can double a woman’s risk for developing breast cancer by the age of 60, according to a study published in Genetics in Medicine.
Wendy K. Chung, MD, PhD, of the department of epidemiology at Columbia University, and colleagues wrote that investigators have long suspected an association between breast cancer and Lynch syndrome, an inherited condition that raises risk for colorectal, ovarian, stomach and endometrial cancer. However, not enough data had been collected to address the question for each of the Lynch syndrome genes individually.
“People with Lynch syndrome aren’t thinking they may also be at risk for breast cancer,” Chung said in a press release. “Given the fact that genomic analysis is becoming more common in patients with a personal history 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.”
Investigators analyzed a database of more than 50,000 women who had undergone multi-gene hereditary cancer testing between 2013 and 2015. They found 423 women with a mutation in one of the four genes that cause Lynch syndrome. Women with a mutation in two specific Lynch syndrome genes, MSH6 and PMS2, were twice as likely (31%) to be at risk for breast cancer compared with women in the general population (15%), according to the study.
“The new study suggests MSH6 and PMS2 should be added to the list of genes to screen for when there is a history of breast cancer,” Chung said in the release. “Screening for these genes would also give these families potentially life-saving information to prevent colon cancer by encouraging individuals with the genes to increase the frequency of their colonoscopies.” – by Alex Young
Disclosures: The study was funded by GeneDx. The authors report no other relevant financial disclosures.