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Lista de obras de Javier Benitez

1576PGENOME WIDE ASSOCIATION STUDY (GWAS) FOR IDENTIFICATION OF SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS) ASSOCIATED WITH INDIVIDUALS PRESENTING EXTREME PHENOTYPES OF TOBACCO INDUCED NON-SMALL CELL LUNG CANCER (NSCLC) RISK

A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer

artículo científico publicado en 2009

A Multiparametric Study of Malignant Lymphoma of Mucosa Associated Lymphoid Tissue (Malt)

scientific article published on 01 September 1992

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers

article

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

article

A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis

artículo científico publicado en 2017

A genetic origin for acid-base imbalance triggers the mitochondrial damage that explains the autoimmune response and drives to gastric neuroendocrine tumours

artículo científico publicado en 2019

A knockin mouse model for human ATP4aR703C mutation identified in familial gastric neuroendocrine tumors recapitulates the premalignant condition of the human disease and suggests new therapeutic strategies

artículo científico publicado en 2016

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

artículo científico publicado en 2010

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families

artículo científico publicado en 2015

A point mutation changes the polymorphisms pattern in a cystic fibrosis carrier family

artículo científico publicado el 1 de junio de 1992

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

artículo científico publicado en 2018

Allelic expression and quantitative RT-PCR study of TAp73 and DeltaNp73 in non-Hodgkin's lymphomas.

artículo científico publicado en 2005

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

artículo científico publicado en 2016

An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

artículo científico publicado en 2016

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci

artículo científico publicado en 2017

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy

artículo científico publicado en 2015

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

Association of ESR1 gene tagging SNPs with breast cancer risk

artículo científico publicado en 2009

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.

artículo científico publicado en 2016

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

artículo científico publicado en 2016

Association of p16 expression with prognosis varies across ovarian carcinoma histotypes: an Ovarian Tumor Tissue Analysis consortium study

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Autosomal dominant Retinitis Pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus

article

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

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

artículo científico publicado en 2015

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

artículo científico publicado en 2017

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

artículo científico publicado en 2015

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

scientific journal article

Body mass index and breast cancer survival: a Mendelian randomization analysis

artículo científico publicado en 2017

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

C-band pattern in patients with nervous system tumors

scientific article published on 01 July 1987

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

artículo científico publicado en 2013

Cancer epigenetics and methylation

artículo científico publicado en 2002

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

artículo científico publicado en 2017

Chromosomal patterns in human malignant astrocytomas

artículo científico publicado en 1987

Classifying early-onset colorectal cancer according to tumor location: new potential subcategories to explore

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Common germline polymorphisms associated with breast cancer-specific survival

artículo científico publicado en 2015

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

artículo científico publicado en 2019

Correlation between cytogenetic and molecular analysis of t(14;18) in follicular lymphomas

artículo científico publicado en 1992

Correlation between mutations in p53 gene and protein expression in human lymphomas

article

Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer

artículo científico publicado en 2015

Cytogenetic and molecular studies of siblings with ataxia telangiectasia followed for 7 years

Cytogenetic characterization reveals that the SAM-1 erythroid cell line is derived from K-562 cells

artículo científico publicado en 2002

Cytogenetic study of B-cell lymphoma of mucosa-associated lymphoid tissue

scientific article published on 01 September 1992

DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onset

artículo científico publicado en 2015

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis

artículo científico publicado en 2001

DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers

artículo científico publicado en 2015

De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19.

artículo científico

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

artículo científico publicado en 2018

Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting

artículo científico publicado en 2010

Development and validation of the gene-expression Predictor of high-grade-serous Ovarian carcinoma molecular subTYPE (PrOTYPE)

scientific article published on 17 June 2020

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

artículo científico publicado en 2017

E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.

artículo científico publicado en 2018

ECL-cell carcinoids and carcinoma in patients homozygous for an inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit

scientific article published on 06 May 2016

Epigenetic differences arise during the lifetime of monozygotic twins

artículo científico publicado en 2005

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

scholarly article published in Nature Genetics

Estrogen Receptor Status Could Modulate the Genomic Pattern in Familial and Sporadic Breast Cancer

Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation

artículo científico publicado en 2018

European multicenter study on LOH of APOC3 at 11q23 in 766 breast cancer patients: relation to clinical variables. Breast Cancer Somatic Genetics Consortium

artículo científico publicado en 1999

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

artículo científico publicado en 2017

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 2017

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

artículo científico publicado en 2002

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

artículo científico publicado en 2014

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients

artículo científico publicado en 2017

Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer

artículo científico publicado en 2017

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.

artículo científico publicado en 2015

Expression of CYP3A4 as a predictor of response to chemotherapy in peripheral T-cell lymphomas

artículo científico publicado en 2007

Expression profiling of T-cell lymphomas differentiates peripheral and lymphoblastic lymphomas and defines survival related genes.

artículo científico publicado en 2004

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

artículo científico publicado en 2015

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

artículo científico publicado en 2016

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

artículo científico publicado en 2016

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

artículo científico publicado en 2015

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

artículo científico publicado en 2016

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

artículo científico publicado en 2015

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

artículo científico publicado en 2009

Frequency of constitutional chromosome alterations in patients with hematologic neoplasias

artículo científico publicado en 1987

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk

artículo científico publicado en 2018

Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies

artículo científico publicado en 2008

Genetic and epigenetic profile of sporadic pheochromocytomas

artículo científico publicado en 2004

Genetic instability of microsatellites in hematological neoplasms

artículo científico publicado el 1 de junio de 1995

Genetic polymorphisms in DNA repair and oxidative stress pathways associated with malignant melanoma susceptibility

artículo científico publicado en 2011

Genetic predisposition to ductal carcinoma in situ of the breast

artículo científico publicado en 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

artículo científico publicado en 2014

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

artículo científico publicado en 2014

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

artículo científico publicado en 2014

Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

artículo científico publicado en 2016

Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

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

artículo científico publicado en 2013

Genome-wide association study identifies novel breast cancer susceptibility loci

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Genome-wide association study of germline variants and breast cancer-specific mortality

artículo científico publicado en 2019

Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X.

artículo científico publicado en 2014

Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

artículo científico publicado en 2007

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Genomic characterization of individuals presenting extreme phenotypes of high and low risk to develop tobacco-induced lung cancer.

artículo científico publicado en 2018

Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 1998

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

artículo científico publicado en 2019

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

artículo científico publicado en 2015

High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium

artículo científico publicado en 2016

Hypermethylation of a 5′ CpG island of p16 is a frequent event in non-Hodgkin’s lymphoma

article

Hypermethylation of p15/ink4b/MTS2 gene is differentially implicated among non-Hodgkin's lymphomas

artículo científico publicado en 1998

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

artículo científico publicado en 2016

Identification of novel genetic markers of breast cancer survival

artículo científico publicado en 2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

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

artículo científico publicado en 2017

In Reply

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

artículo científico

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

artículo científico publicado en 2016

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

artículo científico publicado en 2015

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

artículo científico publicado en 2014

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Leukemic transformation in patients with the 5q- alteration: analysis of the behavior of the 5q- clones in preleukemic to leukemic phases

artículo científico publicado en 1987

Linkage disequilibrium between cystic fibrosis locus and three DNA markers, XV-2c, KM19 and MP6d-9, in 43 Spanish families

scientific article published on 01 March 1990

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

article

Loss of heterozygosity at 11q23.1 and survival in breast cancer: Results of a large European study

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2016

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

MicroRNA deregulation in triple negative breast cancer reveals a role of miR-498 in regulating BRCA1 expression.

artículo científico publicado en 2016

MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated hereditary breast cancer in paraffin-embedded formalin-fixed breast tumors

artículo científico publicado en 2014

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

Mitotic catastrophe cell death induced by heat shock protein 90 inhibitor in BRCA1-deficient breast cancer cell lines

artículo científico publicado en 2008

Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families

artículo científico publicado en 1998

Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers

scientific article published on 22 March 2016

Molecular signature of response and potential pathways related to resistance to the HSP90 inhibitor, 17AAG, in breast cancer

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening

artículo científico publicado en 2017

MyD88 and TLR4 Expression in Epithelial Ovarian Cancer

artículo científico publicado en 2018

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

artículo científico publicado en 2009

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

artículo científico publicado en 1996

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Oxidative stress in susceptibility to breast cancer: study in Spanish population

artículo científico publicado en 2014

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

artículo científico publicado en 2016

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

artículo científico publicado en 2017

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Parental origin of chromosomal non-disjunction in a 49,XXXXY male using recombinant-DNA techniques

artículo científico publicado en 1989

Pathology and gene expression of hereditary breast tumors associated with BRCA1, BRCA2 and CHEK2 gene mutations

artículo científico publicado en 2006

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

artículo científico publicado en 2022

Performance of automated scoring of ER, PR, HER2, CK5/6 and EGFR in breast cancer tissue microarrays in the Breast Cancer Association Consortium

artículo científico publicado en 2014

Pharmacogenetic variants and response to neoadjuvant single-agent doxorubicin or docetaxel: a study in locally advanced breast cancer patients participating in the NCT00123929 phase 2 randomized trial

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Polymorphic variations in peripherin-RDS gene in the Spanish population

scientific article published on 01 January 1995

Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A

artículo científico publicado el 15 de abril de 2003

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

artículo científico publicado en 2015

Possible correlation between a specific alteration t(7;14) and the rearrangement of TCR observed in a Sézary's syndrome

artículo científico publicado en 1990

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

artículo científico publicado en 2005

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies.

artículo científico publicado en 2016

Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups

artículo científico publicado en 2016

Prognostic value of complex karyotypes in patients with simple refractory anemia

scientific article published on 01 June 1991

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

artículo científico publicado en 2018

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

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

artículo científico publicado en 2007

RAD51B in Familial Breast Cancer

artículo científico publicado en 2016

RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.

artículo científico publicado en 2015

RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility

artículo científico publicado en 2019

Rare mutations in XRCC2 increase the risk of breast cancer

artículo científico publicado en 2012

Rare variants in XRCC2 as breast cancer susceptibility alleles

artículo científico publicado en 2012

Recurrence of Down syndrome associated with microchromosome

artículo científico publicado el 23 de mayo de 1979

Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.

artículo científico publicado en 2017

Serial cytogenetic study of a human glioma cell line.

artículo científico publicado en 1983

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Somatic stability in chorionic villi samples and other Huntington fetal tissues

artículo científico publicado en 1995

Study of the parental origin of sexual aneuploidy in ten families using RFLPs.

artículo científico publicado en 1990

Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma

artículo científico publicado en 2004

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

artículo científico publicado en 2016

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

artículo científico publicado en 2018

The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features

article

The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients

artículo científico publicado en 2015

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

artículo científico publicado en 2009

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2009

The importance of replication in gene-gene interaction studies: multifactor dimensionality reduction applied to a two-stage breast cancer case-control study

article

The role of genetic breast cancer susceptibility variants as prognostic factors

artículo científico publicado en 2012

The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain

article

The wide spectrum of POT1 gene variants correlates with multiple cancer types.

artículo científico publicado en 2017

Translocation of a supernumerary Y to a 15: Study of six cases (three males and three females) in three generations

artículo científico publicado el 27 de abril de 1979

Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease

artículo científico publicado en 1994

Trisomy 14 in a case of sideroblastic refractory anemia

artículo científico publicado en 1994

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

artículo científico publicado en 2015

Two fertile Turner women in a family

scientific article published on 01 December 1984

Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer

article

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

artículo científico publicado en 2013

p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study

artículo científico publicado en 2023

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

artículo científico publicado en 2016