Next-generation sequencing reveals heterogeneous genetic alterations in key signaling pathways of mismatch repair deficient colorectal carcinomas

• Published in: Modern pathology Vol. 33; no. 12; pp. 2591 - 2601
• Main Authors: Wang, Jing, Li, Ruiyu, He, Yangzhige, Yi, Yuting, Wu, Huanwen, Liang, Zhiyong
• Format: Journal Article
• Language: English
• Published: New York Elsevier Inc 01.12.2020; Nature Publishing Group US; Elsevier Limited
• Subjects: 1-Phosphatidylinositol 3-kinase; 692/308/2056; 692/699/67/1504/1885; Adenomatous polyposis coli; Biomarkers, Tumor - genetics; BRCA2 protein; Clinical Decision-Making; Coexistence; Colorectal cancer; Colorectal carcinoma; Colorectal Neoplasms - genetics; Colorectal Neoplasms - pathology; Colorectal Neoplasms - therapy; Divergence; DNA damage; DNA Methylation; DNA Mismatch Repair; DNA Mutational Analysis; DNA repair; Gene Fusion; Genetic disorders; Genetic Heterogeneity; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing; Humans; Kinases; Laboratory Medicine; Medicine; Medicine & Public Health; Microsatellite instability; Mismatch repair; MLH1 protein; Mutation; MutL Protein Homolog 1 - genetics; Next-generation sequencing; p53 Protein; Pathology; Phenotype; Point mutation; Polyps; Precision Medicine; Predictive Value of Tests; Promoter Regions, Genetic; Protein-tyrosine kinase receptors; Retrospective Studies; Signal transduction; Signal Transduction - genetics; Tumors; Wnt protein

Colorectal carcinoma (CRC) with deficient mismatch repair (dMMR) is an etiologically heterogeneous molecular entity. We investigated the genetic profile, focusing on key signaling pathways and molecular diversity of dMMR CRCs. In this study, next-generation sequencing was applied to 156 consecutive...