According to a study recently presented (abstract 1503) at the 2017 American Society of Clinical Oncology (ASCO) Annual Meeting, held June 2–6 in Chicago, women diagnosed with endometrial cancer are oftentimes not provided with genetic counseling referrals (GCR).
Many clinicians are familiar with Lynch syndrome, the hereditary genetic mutation syndrome also referred to as hereditary nonpolyposis colorectal cancer (HNPCC). Currently it is understood that the specific DNA mismatch repair (MMR) genes (genes responsible for repairing DNA errors during cell division) which affect those with HNPCC include the genes MLH1, MSH2, MSH6, PMS2, and EPCAM, leading to an increased risk in certain cancers at an earlier than average onset. Some of these cancers include stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder are also at an increased risk of ovarian and endometrial cancers.
Researchers addressed the relevance of genetic testing in certain populations of women diagnosed with endometrial cancer. Their aim was to gain a better understanding of genetic counseling referrals and genetic testing rates in this population.
Between 2012 and 2015, they identified women diagnosed with endometrial cancer (n = 447) and evaluated their risk factors. These included age, body mass index (BMI), family history of two or more Lynch-related cancer family members, and tumor MMR protein expression loss. Of the 447 women identified, gynecologic oncologists referred 107 women (24%) of these women based on their own discretion and included women who were younger and with a lower BMI. Of these referrals, 71 women (66%) went on to receive testing and eight women (11%) were found to have a germline mutation in one of the MMR genes.
Researchers are recommending that high-risk women with endometrial cancer receive genetic counseling referrals and testing to identify women at a higher than average risk for a germline mutation. The goal of capturing these Lynch-positive women is to adequately screen for other cancers in which they are also at risk for developing. Additionally, appropriate family member testing may also be recommended.