Patterns of family communication and preferred resources for sharing information among families with a Lynch syndrome diagnosis

Lynch syndrome is a hereditary cancer syndrome that substantially increases risk of developing colorectal and endometrial cancer, as well as elevating the risk of developing cancer of the stomach, ovaries, urinary tract, brain, and small bowel [1,2]. Lynch syndrome is caused by a germline pathogenic variant (i.e., disease-associated mutation) in one of four mismatch repair genes: MLH1, MSH2, MSH6, and PMS2. Pathogenic variants in MSH2 and MLH1 are associated with up to 74% and 54% lifetime risks for colorectal and endometrial cancer, respectively, while PMS2 and MSH6 are associated with up to 22% and 26% lifetime risks for colorectal and endometrial cancers, respectively.

Source: Patient Education and Counseling - July 26, 2018 Category: International Medicine & Public Health Authors: Jenna Petersen, Cathryn Koptiuch, Yelena P. Wu, Ryan Mooney, Ashley Elrick, Kathryn Szczotka, Megan Keener, Lisa Pappas, Priyanka Kanth, Andrew Soisson, Wendy Kohlmann, Kimberly A. Kaphingst Source Type: research