Diffuse gastric and lobular breast cancer (DGLBC) syndrome is an autosomal dominant disorder linked to pathogenic variants in the CDH1 gene. We performed a survey-based analysis of reproductive decision-making in 121 individuals with CDH1 variants, including 6 women who gave birth after prophylactic total gastrectomy (PTG). Approximately half of individuals reported that their CDH1 diagnosis impacted family planning, and they experienced guilt related to passing the CDH1 variant to offspring. Micronutrient deficiencies, inadequate weight gain, and worsening post-gastrectomy syndromes were common during pregnancy after PTG. Access to information and counseling about reproduction are needed to support individuals with DGLBC syndrome. (By Dr. Amber F. Gallanis, https://jmg.bmj.com/content/early/2025/06/20/jmg-2025-110857 )
Reproductive decision-making and pregnancy in germline CDH1 variant carriers
(Visited 10 times, 1 visits today)