Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers.

ABSTRACT: Clonal hematopoiesis of indeterminate potential (CHIP) is characterized by detectable hematopoietic-associated gene mutations in a person without evidence of hematologic malignancy. We sought to identify additional cancer-presenting mutations useable for CHIP detection by performing a data mining analysis of 48 somatic mutation studies reporting mutations at diagnoses of 7,430 adult and pediatric patients with hematologic malignancies. Following extraction of 20,141 protein-altering mutations, we identified 434 significantly recurrent mutation hotspots, 364 of which occurred at loci confidently assessable for CHIP. We then performed an additional large-scale analysis of whole exome sequencing data from 4,538 persons belonging to three non-cancer cohorts for clonal mutations. We found the c

SUBMITTER: Feusier JE 

PROVIDER: S-EPMC8133376 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature