Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria

摘要: Background The clinical phenotype of CDH1 pathogenic variant carriers has mostly been studied in families that fulfil criteria hereditary diffuse gastric cancer (HDGC). We aimed at determining and risk estimation among with variants not selected by HDGC criteria. Methods Patients were all consecutively identified from a laboratory tested multigene panel testing an academic genetics programme. Clinical demographic features, phenotypes genotype–phenotype correlations determined families. Age-specific cumulative risks (penetrance) calculated based on 38 available pedigrees. Results Within the 113 probands 476 relatives, had cancer, 177 breast 196 other cancers. Mean age diagnosis was 47 for 54 cancer. Forty-six per cent fulfilled HDGC. While 36% both cancers, but no cancers 16% Cumulative 80 37.2% 42.9% Conclusion In unselected carrier families, lower higher than previously reported pre-selected A substantial proportion did present any their limited to breast. Thus, should be widened, including only, consideration delayed prophylactic gastrectomy/surveillance evaluated.