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RECQL5 : Another DNA helicase potentially involved in hereditary breast cancer susceptibility
Author(s) -
TaveraTapia Alejandra,
Hoya Miguel,
Calvete Oriol,
MartinGimeno Paloma,
Fernández Victoria,
Macías José Antonio,
Alonso Beatriz,
Pombo Luz,
Diego Carles,
Alonso Rosario,
Pita Guillermo,
Barroso Alicia,
Urioste Miguel,
Caldés Trinidad,
Newman Joseph A.,
Benítez Javier,
Osorio Ana
Publication year - 2019
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23732
Subject(s) - biology , genetics , exome sequencing , gene , in silico , exon , exome , helicase , intron , candidate gene , breast cancer , cancer , computational biology , mutation , rna
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.