Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas

ConclusionsWe find that bi-allelic alterations are infrequent in TCGA but most frequently occur inBRCA1/2 and MMR genes. Our results support the idea that bi-allelic alteration is required for germline variation to influence tumor mutational profile. Overall, we demonstrate that integrating germline, somatic, and epigenetic alterations provides new understanding of somatic mutational profiles.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research