Examining Patients' Medical And Psychosocial Experiences Following Detection Of A Cdh1 Variant With Multiplex Genetic Testing

1583Background: Germline CDH1 mutations are associated with hereditary diffuse gastric cancer and lobular breast cancer. We conducted a cross-sectional, self-report survey to understand genetic testing experiences, medical management, and psychosocial adaptation among patients with a CDH1 variant. Methods: We recruited participants from the Prospective Registry of Multiplex Testing (PROMPT), an online genetic registry. We invited individuals with a CDH1 variant to complete a survey of validated and investigator-designed items. We computed descriptive statistics, and used t tests and chi-square tests to compare responses of individuals with pathogenic variants (PV) or variants of uncertain significance (VUS). Results: Data were available from 55 individuals (96% female, 89% white, 75% college graduate, age 32-78) with a CDH1 PV (n = 16; 3 with a family history of gastric cancer) or VUS (n = 39; 12 with a family history of gastric cancer). Overall, 82% had received genetic counseling, 73% felt sufficiently ...