My note on paper: Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer
Paper: Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer (doi: 10.1038/ng.2983) Abstract: Gastric cancer- diverse histological subtypes diverse molecular subtypes Method- Whole genome sequencing on **100 tumor-normal ** DNA copy number profile **gene expression profile **methylation profile Results- Tumor subtype relates to **genetic perturbation **epigenetic perturbation **unique mutational signatures Found driver genes: TP53, ARID1A, CDH1 (previously known) MUC6, CTNNA2, GLI3, RNF43 and others (newly found) Found RHOA (Ras Homolog Family Member A, member of the Rho family of small GTPases) mutation mostly in diffuse-type tumors (14.3%) not in intestinal-type tumors In recurrent hotspots; *clustered mutation in functional domains that affect RHOA signaling, promoting escape from anoikis (a programmed cell death induced upon cell detachment from extracellular matrix) in organoid cultu...