BLM mutation is associated with increased tumor mutation burden and improved survival after immunotherapy across multiple cancers.

ABSTRACT:

Background

BLM encodes a RecQ DNA helicase that regulates genomic stability, and its mutations are associated with increased cancer susceptibility. Here, we show a multifaceted role of BLM mutations in tumorigenesis and immunotherapy.

Methods and results

A total of 10,967 cancer samples from the cancer genome atlas database were analyzed, 1.6% of which harbored BLM somatic mutations. BLM mutation was found to be associated with increased tumor mutation burden and more immune-active tumor microenvironment in these patients. Moreover, clinical data of 2785 patients from nine immunotherapy studies were analyzed to study BLM mutations' impact on immunotherapy. Among them, 69 patients harbored BLM mutations, and interestingly, they had significantly higher survival probability th

SUBMITTER: Shi H 

PROVIDER: S-EPMC10807622 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature