Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms.

ABSTRACT: There is growing evidence indicating the implication of germline variation in cancer predisposition and prognostication. Here, we describe an analysis of likely disruptive rare variants across the genomes of 726 patients with B-cell lymphoid neoplasms. We discovered a significant enrichment for two genes in rare dysfunctional variants, both of which participate in the regulation of oxidative stress pathways (CHMP6 and GSTA4). Additionally, we detected 1675 likely disrupting variants in genes associated with cancer, of which 44.75% were novel events and 7.88% were protein-truncating variants. Among these, the most frequently affected genes were ATM, BIRC6, CLTCL1A, and TSC2. Homozygous or germline double-hit variants were detected in 28 cases, and c

SUBMITTER: Mosquera Orgueira A 

PROVIDER: S-EPMC8001490 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature