Combined analysis of chromatin accessibility, promoter interactions and whole genome sequencing solved the missing heritability in gastric cancer
C. São José,
M. Ferreira,
L. Cordova
et al.
Abstract:Missing heritability in hereditary diffuse gastric cancer (HDGC) ranges from 60 to 90%. These HDGC-like families, despite complying with HDGC clinical criteria, lack CDH1 and CTNNA1 actionable germline variants, and are not offered HDGC-targeted life-saving disease prevention measures. Herein, we explored novel HDGC predisposition mechanisms affecting the CDH1-regulatory network. We called single-nucleotide (SNV) and copy-number variants (CNV) from 19 HDGC-like probands from whole-genome sequencing data and pe… Show more
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