E-cadherin genetic screening and clinico-pathologic characteristics of early onset gastric cancer

摘要: Abstract Aim CDH1 germline alterations occur in about 40% of hereditary diffuse gastric cancer (HDGC) families. mutations are also documented few early onset patients (EODGC) without family history, but the real frequency this setting unknown. In these patients, advanced stage at time diagnosis remains a clinical burden due to poor long term survival. Methods The entire coding region and exon flanking sequences gene was analysed by direct sequencing 21 EODGC aged ⩽50 years. potential deleterious nature for new missense variant assessed cell–cell aggregation invasion assays. Somatic mutation, loss heterozigosity (LOH) promoter hypermethylation explored tumour from one mutation carrier. Results Two novel variants were identified cases, c.670C>T –63C>A. Functional analysis classified as non-pathogenic. somatic second hits failed demonstrate E-cadherin structural epigenetic sample. Conclusion Data present work systematic review literature revealed that occurred 7.2% EOGC invariably with mixed histology. From these, proved pathogenicity has been assigned only 2.3% cases who recurrently diagnosed before 35 years old. Germline remain genetic defect described type screening should be recommended characteristics.