The Next-Generation Sequencing Data Revealed The Prevalence of Homologous Recombination–related Gene Mutations in Multiple Cancer Types


With the development of BRCA1/2 gene and the poly-ADP ribose polymerase (PARP) inhibitor in ovarian cancer, the role of homologous recombination DNA damage repair (HR-DDR) related gene has become apparent in recent years. The scientists of Georgetown University and Caris Life Sciences published a study to investigate the prevalence of HR-DDR related gene mutation in multiple cancer types. They analyzed 52,426 specimens across 21 cancers by next-generation sequencing technology. The results showed that HR-DDR gene mutations accounted for 17.4% of all samples, and the cancers with the highest frequencies of mutations in HR-DDR genes were endometrial (34.4%; n = 1,475), biliary tract (28.9%; n = 343) and bladder (23.9%; n = 201). The most commonly mutated genes were ARID1A (7.2%), BRCA2 (3.0%), and BRCA1 (2.8%). This study provided the prevalence of HR-DDR mutations across multiple cancer types and revealed a new path for developing new treatment strategies.


Heeke AL, et al., JCO Precis Oncol. 2018