Javier Benítez

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Publications in SciGraph latest 50 shown

  • 2019-12 Shared heritability and functional enrichment across six solid cancers in NATURE COMMUNICATIONS
  • 2019-01 Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-12 Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 in NATURE COMMUNICATIONS
  • 2018-12 E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium in SCIENTIFIC REPORTS
  • 2018-07 A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer in NATURE GENETICS
  • 2018-01 Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients in BREAST CANCER RESEARCH AND TREATMENT
  • 2017-12 Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study in BREAST CANCER RESEARCH
  • 2017-12 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer in NATURE GENETICS
  • 2017-11 A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis in GASTRIC CANCER
  • 2017-11 The wide spectrum of POT1 gene variants correlates with multiple cancer types in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-11 Association analysis identifies 65 new breast cancer risk loci in NATURE
  • 2017-09-26 Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes in BRITISH JOURNAL OF CANCER
  • 2017-06 Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk in NATURE GENETICS
  • 2017-05 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer in NATURE GENETICS
  • 2017-04 Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-03 FAS system deregulation in T-cell lymphoblastic lymphoma in CELL DEATH & DISEASE
  • 2017-02 Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene in BREAST CANCER RESEARCH AND TREATMENT
  • 2017-01 Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3 in BREAST CANCER RESEARCH AND TREATMENT
  • 2016-12 Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women in BREAST CANCER RESEARCH
  • 2016-12 Genetic predisposition to ductal carcinoma in situ of the breast in BREAST CANCER RESEARCH
  • 2016-12 Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 in BREAST CANCER RESEARCH
  • 2016-12 Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus in BREAST CANCER RESEARCH
  • 2016-12 Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups in BREAST CANCER RESEARCH
  • 2016-10 Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs) in SCIENTIFIC REPORTS
  • 2016-05 Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry in CANCER CAUSES & CONTROL
  • 2016-04-27 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer in NATURE COMMUNICATIONS
  • 2016-04 Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 in NATURE GENETICS
  • 2016-01 Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium in HUMAN GENETICS
  • 2015-12 A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families in NATURE COMMUNICATIONS
  • 2015-12 Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy in BREAST CANCER RESEARCH
  • 2015-12 An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers in BREAST CANCER RESEARCH
  • 2015-12 BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study in FAMILIAL CANCER
  • 2015-12 Common germline polymorphisms associated with breast cancer-specific survival in BREAST CANCER RESEARCH
  • 2015-11 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair in NATURE GENETICS
  • 2015-07 DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers in BREAST CANCER RESEARCH AND TREATMENT
  • 2015-06 Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X in JOURNAL OF GASTROENTEROLOGY
  • 2015-04 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer in NATURE GENETICS
  • 2015-02 Identification of six new susceptibility loci for invasive epithelial ovarian cancer in NATURE GENETICS
  • 2015-01 Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients in BREAST CANCER RESEARCH AND TREATMENT
  • 2014-12 Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia in BREAST CANCER RESEARCH
  • 2014-12 Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation in NATURE COMMUNICATIONS
  • 2014-12 Oxidative stress in susceptibility to breast cancer: study in Spanish population in BMC CANCER
  • 2014-10 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche in NATURE
  • 2014-06 Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study in BREAST CANCER RESEARCH
  • 2014-03 A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-02 FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium in BRITISH JOURNAL OF CANCER
  • 2013-12 ARF triggers senescence in Brca2-deficient cells by altering the spectrum of p53 transcriptional targets in NATURE COMMUNICATIONS
  • 2013-11 MicroRNA-based molecular classification of non-BRCA1/2 hereditary breast tumours in BRITISH JOURNAL OF CANCER
  • 2013-09 Short telomeres are frequent in hereditary breast tumors and are associated with high tumor grade in BREAST CANCER RESEARCH AND TREATMENT
  • 2013-08 The complex genetic landscape of familial breast cancer in HUMAN GENETICS
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