Young people’s experiences of a CDH1 pathogenic variant: Decision‐making about gastric cancer risk management

Abstract

Individuals with a CDH1 germline pathogenic variant (PV) have a significantly increased lifetime risk of diffuse gastric cancer and lobular breast cancer (Blair et al., 2020). The cumulative risk of diffuse gastric cancer for individuals with a CDH1 PV by age 80 years has been previously reported to be 70% for men and 56% for women (Hansford et al., 2015). More recently, consideration of the ascertainment of CDH1 PVs and the penetrance of phenotype has resulted in revised estimates of gastric cancer risks of 42% for males and 33% for fe-

Decision-making and regret in patients with germlineCDH1variants undergoing prophylactic total gastrectomy

“…The high risk of developing a notoriously aggressive cancer is anxiety-provoking and likely to have a major influence on decision-making. Our results indicate that the decision to pursue PTG was often based on family history of gastric cancer, which was anticipated and is consistent with prior qualitative interview-based reports 16 17. However, we observed significant differences in decision-making based on extent of family history of gastric cancer.…”

“…The paucity of high-level data to inform individual gastric cancer risk, the chronic sequelae of prophylactic gastrectomy and the undetermined safety profile of enhanced cancer surveillance results in a complex decision-making process for individuals with germline CDH1 variants. Qualitative investigations have probed individuals’ thought processes through interviews and surveys to understand patient-specific circumstances that lead to a decision to proceed with PTG 13–17. However, quantitative data examining factors that influence the decision-making process are unknown.…”