List of works - Javier Benitez

Epigenetic differences arise during the lifetime of monozygotic twins

scientific article

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

A common coding variant in CASP8 is associated with breast cancer risk

article

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

scientific article published on July 2005

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 2013

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Association analysis identifies 65 new breast cancer risk loci

scientific article published on 23 October 2017

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis

scientific article published in December 2001

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

scientific article published on 16 October 2007

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

scientific article published on 27 March 2013

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Rare mutations in XRCC2 increase the risk of breast cancer

scientific article (publication date: 6 April 2012)

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping

scientific journal article

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

BRCA1 CpG Island Hypermethylation Predicts Sensitivity to Poly(Adenosine Diphosphate)- Ribose Polymerase Inhibitors

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Tumor microRNA expression profiling identifies circulating microRNAs for early breast cancer detection

scientific article published on 8 June 2015

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

scientific article

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer

scientific article

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Cancer epigenetics and methylation

scientific article published in September 2002

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

scientific article

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

scientific article

Association of ESR1 gene tagging SNPs with breast cancer risk

scientific article published on 06 January 2009

The role of genetic breast cancer susceptibility variants as prognostic factors

scientific article

Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk

scientific article published on 27 March 2012

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls

scientific article published on 27 March 2013

Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer.

scientific article published on 12 October 2017

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer

scientific article

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin

scientific article published on May 2016

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

scientific article

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

List of works by Javier Benitez

Epigenetic differences arise during the lifetime of monozygotic twins

Genome-wide association study identifies novel breast cancer susceptibility loci

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

A common coding variant in CASP8 is associated with breast cancer risk

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Association analysis identifies 65 new breast cancer risk loci

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

Prediction of breast cancer risk based on profiling with common genetic variants

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis

Genome-wide association analysis identifies three new breast cancer susceptibility loci

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Rare mutations in XRCC2 increase the risk of breast cancer

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

BRCA1 CpG Island Hypermethylation Predicts Sensitivity to Poly(Adenosine Diphosphate)- Ribose Polymerase Inhibitors

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

Tumor microRNA expression profiling identifies circulating microRNAs for early breast cancer detection

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Cancer epigenetics and methylation

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

Association of ESR1 gene tagging SNPs with breast cancer risk

The role of genetic breast cancer susceptibility variants as prognostic factors

Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls

Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer.

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS