期刊
HUMAN MUTATION
卷 40, 期 5, 页码 566-577出版社
WILEY
DOI: 10.1002/humu.23732
关键词
breast cancer; germline pathogenic variant; RECQL5; whole exome sequencing
资金
- National Centre for Genomic Analysis [300]
- Boehringer Ingelheim
- Ontario Ministry of Economic Development and Innovation
- Ministry of Economy and Competitiveness [SAF2014-57680-R]
- Canada Foundation for Innovation
- Pfizer
- Sao Paulo Research Foundation-FAPESP
- Health Ministry [PI12/00070]
- Genome Canada
- Novartis Pharma AG
- FIS [15/00059]
- AbbVie
- Eshelman Institute for Innovation, University of North Carolina
- La Caixa Foundation
- Innovative Medicines Initiative [(EU/EFPIA) [ULTRA-DD 115766]]
- H2020
- BRIDGES project [634935]
- Takeda
- Janssen
- Merk Co
- Bayer
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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