Lynch syndrome: patients’ perception of cancer risk, uptake of risk reducing surgery, and screening practices

Objectives: Women with Lynch syndrome (LS) experience a lifetime risk of endometrial and colon cancer of up to 57%, and the risk is approximately equal for each LS gene. Little is known about how LS patients perceive and seek to manage their cancer risks. The objective of this study was to determine the perceived risk of endometrial (EC), ovarian (OC), and colon (CC) cancer among those with LS, to report adherence to EC and CC screening guidelines, and uptake of risk reducing surgical procedures. Methods: A survey instrument was developed using investigator generated items and queries adapted from the Health Information National Trends Survey. The anonymous, web-based survey was advertised on Lynch Syndrome International Facebook page from July 1st to August 1st of 2020. Items were reviewed by an expert panel and a patient advocate. Eligibility for cancer screening was defined as (1) EC screening: ≥35 years with no personal history of EC and an intact uterus, and age appropriate screening was defined as an endometrial biopsy within 1 year; (2) CC screening: ≥25 years with no personal history of CC and intact colon, and age appropriate screening was defined as a colonoscopy within 2 years. Results: Of 169 survey responses, 26 were excluded (2 declined, 4 no LS diagnosis, 11 incomplete, 9 men). Results are based on 143 women. The mean (SD) age was 47.3(11.4) years with 91% residing in North America and 68% college educated. Nearly all (99%) were diagnosed by genetic testing with the most common mutation being in MSH2 (40%). A prior cancer diagnosis was reported in 57% with 29% having EC, 21% CC, and 4% OC. Most women (63%) take a multidisciplinary approach to their LS care, including visits with a primary care provider (73%), GI specialist (93%), or gynecologist (70%). However, 37% prefer to receive advice from a single provider most commonly a PCP (35%) or GI (35%). Among women that retain the at-risk organ and do not have a personal history of cancer in that organ, over 90% accurately report their risk of EC, OC, and CC as being more likely than those without LS. However, significantly fewer rated their own likelihood of cancer as high (Table 1). Hysterectomy was common (78%) and more frequently performed for risk reduction in women Download : Download high-res image (96KB) Download : Download full-size image Conclusions: Women with LS appear to be knowledgeable of their increased risk of EC, OC, and CC compared to those without LS, but they may underestimate their personal risk of EC. There was a high uptake of risk reducing surgical procedures in this population, especially in those