Hereditary Diffuse Gastric Cancer: The Decision-Making Process for Individuals

Moniba Sabar, Nida Qamar, Arifa Iqbal


Hereditary diffuse gastric cancer (HDGC) is caused by mutations in the CDH1 gene. Individuals who carry mutations in the CDH1 gene have as high as an 80% lifetime risk for gastric cancer. To reduce the high lifetime risk of gastric cancer, CDH1 mutation carriers are recommended to undergo a prophylactic total gastrectomy (TG). Individuals within this at-risk population face a difficult task of deciding whether to have genetic testing for the CDH1 mutation and to have a prophylactic TG. Currently, there is little research that examines the factors influencing decision-making for this population and their specific informational and support needs. We conducted semi-structured telephone interviews on 26 individuals at different points of this decision-making process. Participants were recruited from the No Stomach for Cancer online support group and other social media websites. To be included in the study, the participants had to be 18 years or older, have a family history of hereditary diffuse gastric cancer, and have not had clinical symptoms of HDGC. A family history of HDGC was defined as having one or more first or second degree relatives who 1) had diffuse gastric cancer and/or 2) tested positive for a CDH1 mutation. Eleven participants had already undergone a TG, nine were identified as CDH1 mutation carriers but were currently evaluating their prophylactic options, and six had a family history of CDH1 but had not yet pursued genetic testing. The interviews were analysed using grounded theory to determine themes. These interviews illuminated that the four main factors influencing decision-making were the avoidance of cancer, family, the inadequacies of endoscopic surveillance, and viewing a post-TG family member’s experience. Additionally, many participants were frustrated with the lack of awareness for the condition and were concerned they had to become their own advocate for their healthcare. The results of this study can provide insight to genetic counselors and other medical professionals of how to help facilitate this decision-making process and how to provide appropriate psychosocial support for this population.


Hereditary diffuse gastric cancer, prophylactic total gastrectomy, patients

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