Journal
BREAST CANCER RESEARCH AND TREATMENT
Volume 161, Issue 3, Pages 597-604Publisher
SPRINGER
DOI: 10.1007/s10549-016-4058-7
Keywords
ATM; Germline pathogenic variant; Hereditary breast and ovarian cancer; Whole exome sequencing
Categories
Funding
- National Centre for Genomic Analysis (CNAG)
- Spanish Ministry of Economy and Competitiveness (MINECO) [SAF2014-57680-R]
- Spanish Network on Rare Diseases (CIBERER) by the Health Ministry [PI12/00070]
- FEDER
- BRIDGES Project [634935]
- FIS [15/00059]
- La-Caixa foundation
- Ministry of Science and Innovation of Spain [PTQ-12-05350]
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There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX). A case-control association study was performed to establish its prevalence in Spanish population, in a series of 1477 BRCAX families and 589 controls further screened, and NGS panels were used for ATM mutational screening in a cohort of 392 HBOC Spanish BRCAX families and 350 patients affected with diseases not related to breast cancer. Although the interrogated mutation was not prevalent in case-control association study, a comprehensive mutational analysis of the ATM gene revealed 1.78% prevalence of mutations in the ATM gene in HBOC and 1.94% in breast cancer-only BRCAX families in Spanish population, where data about ATM mutations were very limited. ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility.
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