Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.

ABSTRACT: The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients enrolled in clinical trials as part of the United Kingdom's 100,000 Genomes Project. We identify an extended catalog of recurrent coding and noncoding genetic mutations that represents a source for future studies and provide the most complete high-resolution map of structural variants, copy number changes and global genome features including telomere length, mutational signatures and genomic complexity. We demonstrate the relationship of these features with clinical outcome and show that integration of 186 distinct recurrent genomic alterations defines five genomic subgroups that assoc

SUBMITTER: Robbe P 

PROVIDER: S-EPMC9649442 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature