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Javier Benitez
Instituto de Salud Carlos III
603Publications
75H-index
27.9kCitations
Publications 581
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Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for...
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#1Xia Jiang (KI: Karolinska Institutet)H-Index: 6
#2Hilary K. Finucane (Broad Institute)H-Index: 29
Last.Sara Lindstroem (UW: University of Washington)H-Index: 46
view all 333 authors...
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#1Xia Jiang (KI: Karolinska Institutet)H-Index: 6
#2Hilary K. Finucane (Broad Institute)H-Index: 29
Last.Sara Lindstroem (UW: University of Washington)H-Index: 46
view all 333 authors...
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#1Xia Jiang (KI: Karolinska Institutet)H-Index: 6
#2Hilary K. Finucane (Broad Institute)H-Index: 29
Last.Sara Lindstroem (UW: University of Washington)H-Index: 46
view all 333 authors...
Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic cor...
9 CitationsSource
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer (PCa). We evaluated whether PSVs in BRCA1/2 were associated with risk of overall PCa or high grade (Gleason 8+) PCa using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with PCa, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without PCa. PSVs in the 39 region of BRCA2 (c.7914+) were significantly associated with elevated risk of PCa compared w...
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In recent years, high-throughput next-generation sequencing technology has allowed a rapid increase in diagnostic capacity and precision through different bioinformatics processing algorithms, tools and pipelines. The identification, annotation and classification of sequence variants within different target regions are now considered a gold standard in clinical genetic diagnosis. However, this procedure lacks the ability to link regulatory events such as differential splicing to diseases. RNA-se...
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#1Pooja Middha Kapoor (DKFZ: German Cancer Research Center)H-Index: 1
#2Sara Lindstroem (UW: University of Washington)H-Index: 46
Last.Argyrios Ziogas (UCI: University of California, Irvine)H-Index: 62
view all 150 authors...
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#1Haoyu Zhang (Johns Hopkins University)H-Index: 3
#2Thomas U. Ahearn (NIH: National Institutes of Health)H-Index: 11
Last.Nilanjan Chatterjee (Johns Hopkins University)H-Index: 74
view all 276 authors...
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study (GWAS) including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth fac...
1 CitationsSource
#1Xia JiangH-Index: 6
#2Hilary K. FinucaneH-Index: 29
Last.Sara LindstroemH-Index: 46
view all 333 authors...
textabstractAn amendment to this paper has been published and can be accessed via a link at the top of the paper.
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#1Oriol CalveteH-Index: 5
#2Pablo García-Pavía (Universidad Francisco de Vitoria)H-Index: 6
Last.Javier BenitezH-Index: 75
view all 14 authors...
Background Mutations in the POT1 gene explain abnormally long telomeres and multiple tumors including cardiac angiosarcomas (CAS). However, the link between long telomeres and tumorigenesis is poor...
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