RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility

Human Mutation
Alejandra Tavera-TapiaAna Osorio

Abstract

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 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 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 the 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.

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Citations

Feb 13, 2020·International Journal of Molecular Sciences·Davide AngeliGianluca Tedaldi
Jan 12, 2021·Current Genetics·Nafees AhamadYong-Jie Xu
Nov 3, 2020·DNA Repair·Srijita DharRobert M Brosh
May 8, 2021·Current Genetics·Robert H SimmonsMatthew L Bochman
Jun 25, 2021·Frontiers in Oncology·Mahnaz NorouziMohammad Amin Tabatabaiefar

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