RECQL5: another DNA helicase potentially involved in hereditary breast cancer susceptibility.

There is still around 50% of the familial breast cancer (BC) cases with an undefined genetic cause, here we have used Next Generation Sequencing (NGS) technology in order to identify new BC susceptibility genes. This approach has led to the identification of RECQL5, a member of RECQL-helicases family as a new BC susceptibility candidate, which deserves further study. We have used a combination of Whole Exome Sequencing (WES) in a family negative for mutations in BRCA1/2 throughout (BRCAX), in which we found a probably deleterious variant in RECQL5, and targeted NGS of the complete coding regions and exon-intron boundaries of the candidate gene in 699 BC Spanish BRCAX families and 665 controls. Functional characterization and in silico inference of pathogenicity were performed to evaluate deleterious effect of detected variants. We found at least seven deleterious or likely deleterious variants among the cases and only one in controls. These results prompt us to propose RECQL5 as a gene that would be worth to analyze in larger studies to explore its possible implication in BC susceptibility. This article is protected by copyright. All rights reserved.