Javier Benitez

researcher

Javier Benitez is …
instance of (P31):
humanQ5

External links are
P496ORCID iD0000-0002-0923-7202
P1053ResearcherIDH-5232-2015

P69educated atComplutense University of MadridQ219694
P108employerNational Center for Oncological ResearchQ5761421
P735given nameJavierQ1142232
JavierQ1142232
P106occupationresearcherQ1650915
P21sex or gendermaleQ6581097

Reverse relations

author (P50)
Q573059081576PGENOME 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
Q44276388A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer
Q60895684A Multiparametric Study of Malignant Lymphoma of Mucosa Associated Lymphoid Tissue (Malt)
Q59355837A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Q64040629A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers
Q57250674A common coding variant in CASP8 is associated with breast cancer risk
Q61937452A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis
Q93093179A genetic origin for acid-base imbalance triggers the mitochondrial damage that explains the autoimmune response and drives to gastric neuroendocrine tumours
Q37305896A 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
Q35089479A 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
Q35786931A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families
Q67518285A point mutation changes the polymorphisms pattern in a cystic fibrosis carrier family
Q57305942A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
Q54650046Allelic expression and quantitative RT-PCR study of TAp73 and DeltaNp73 in non-Hodgkin's lymphomas.
Q39134402Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene
Q36882665An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers
Q36073563An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression
Q35618307An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
Q42371458Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci
Q35242849Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers
Q35218520Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy
Q45979098Association analysis identifies 65 new breast cancer risk loci.
Q37292963Association of ESR1 gene tagging SNPs with breast cancer risk
Q36178189Association 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.
Q37684672Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
Q37268494Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry
Q56337548Association of p16 expression with prognosis varies across ovarian carcinoma histotypes: an Ovarian Tumor Tissue Analysis consortium study
Q35957703Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
Q35523236Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Q57056093Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis
Q63315268Autosomal dominant Retinitis Pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus
Q57239856BRCA1 CpG Island Hypermethylation Predicts Sensitivity to Poly(Adenosine Diphosphate)- Ribose Polymerase Inhibitors
Q37261138BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
Q40886401BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
Q38914005BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Q37002955BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Q28115349BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping
Q46115524Body mass index and breast cancer survival: a Mendelian randomization analysis
Q35940158Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Q69017311C-band pattern in patients with nervous system tumors
Q36998293COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration
Q44135480Cancer epigenetics and methylation
Q34963894Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
Q38614203Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.
Q44760395Chromosomal patterns in human malignant astrocytomas
Q35993186Classifying early-onset colorectal cancer according to tumor location: new potential subcategories to explore
Q36839777Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Q34394665Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction
Q36600605Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk
Q36856357Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls
Q35794653Common germline polymorphisms associated with breast cancer-specific survival
Q35870067Common 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
Q91090014Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers
Q43717555Correlation between cytogenetic and molecular analysis of t(14;18) in follicular lymphomas
Q61822365Correlation between mutations in p53 gene and protein expression in human lymphomas
Q30660858Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer
Q57221272Cytogenetic and molecular studies of siblings with ataxia telangiectasia followed for 7 years
Q44202319Cytogenetic characterization reveals that the SAM-1 erythroid cell line is derived from K-562 cells
Q60895691Cytogenetic study of B-cell lymphoma of mucosa-associated lymphoid tissue
Q64049502DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onset
Q21144874DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers
Q43829640DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis
Q38864434DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers
Q38485176De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19.
Q50416430Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.
Q28748212Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting
Q96590073Development and validation of the gene-expression Predictor of high-grade-serous Ovarian carcinoma molecular subTYPE (PrOTYPE)
Q43924266Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer.
Q55110745E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.
Q64048324ECL-cell carcinoids and carcinoma in patients homozygous for an inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit
Q24531005Epigenetic differences arise during the lifetime of monozygotic twins
Q57250672Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk
Q57272206Estrogen Receptor Status Could Modulate the Genomic Pattern in Familial and Sporadic Breast Cancer
Q51766497Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation.
Q36617728European multicenter study on LOH of APOC3 at 11q23 in 766 breast cancer patients: relation to clinical variables. Breast Cancer Somatic Genetics Consortium
Q33614244Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
Q37745041Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers
Q33894527Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium
Q35064451Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
Q37342144Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
Q40039502Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients
Q47726410Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer
Q46773237Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.
Q43793379Expression of CYP3A4 as a predictor of response to chemotherapy in peripheral T-cell lymphomas
Q54707035Expression profiling of T-cell lymphomas differentiates peripheral and lymphoblastic lymphomas and defines survival related genes.
Q35999309FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
Q37236216Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
Q36111237Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus
Q36087170Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Q35524465Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.
Q61230414Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes
Q39844032Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
Q36248936Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk
Q34903062Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.
Q37367871Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.
Q34979715Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium
Q63315280Frequency of constitutional chromosome alterations in patients with hematologic neoplasias
Q36124728Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Q36742577Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
Q62583319Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk
Q33395472Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies
Q35445014Genetic and epigenetic profile of sporadic pheochromocytomas
Q38294863Genetic instability of microsatellites in hematological neoplasms
Q53286130Genetic polymorphisms in DNA repair and oxidative stress pathways associated with malignant melanoma susceptibility.
Q35925620Genetic predisposition to ductal carcinoma in situ of the breast
Q35151684Genetic predisposition to in situ and invasive lobular carcinoma of the breast
Q35179897Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study
Q34378972Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade
Q49569666Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers.
Q36422109Genetic 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
Q30000080Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent
Q45024538Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.
Q28388497Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types
Q36842233Genome-wide association analysis identifies three new breast cancer susceptibility loci
Q35996692Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Q63681757Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Q24622610Genome-wide association studies identify four ER negative-specific breast cancer risk loci
Q24645441Genome-wide association study identifies novel breast cancer susceptibility loci
Q27008356Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
Q64040390Genome-wide association study of germline variants and breast cancer-specific mortality
Q53228400Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X.
Q33296082Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies
Q59566871Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility
Q38823212Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Q64975021Genomic characterization of individuals presenting extreme phenotypes of high and low risk to develop tobacco-induced lung cancer.
Q38741192Germline 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.
Q35114576Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer
Q34385784Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study
Q35382206Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Q57471595Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study
Q36276540Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization
Q37121271High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium
Q60895674Hypermethylation of a 5′ CpG island of p16 is a frequent event in non-Hodgkin’s lymphoma
Q47929820Hypermethylation of p15/ink4b/MTS2 gene is differentially implicated among non-Hodgkin's lymphomas
Q35102646Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
Q30252854Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Q36720814Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
Q36859142Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Q36086247Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Q36014067Identification of novel genetic markers of breast cancer survival
Q35541663Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Q46103372Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Q61822348In Reply
Q38610326Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Q37410472Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
Q35104068Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer
Q34898735Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors
Q57191573Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair
Q28267893Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
Q29416989Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Q68985163Leukemic transformation in patients with the 5q- alteration: analysis of the behavior of the 5q- clones in preleukemic to leukemic phases
Q68083808Linkage disequilibrium between cystic fibrosis locus and three DNA markers, XV-2c, KM19 and MP6d-9, in 43 Spanish families
Q63315266Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
Q59539067Loss of heterozygosity at 11q23.1 and survival in breast cancer: Results of a large European study
Q31043651Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
Q92860654Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Q37190254MicroRNA deregulation in triple negative breast cancer reveals a role of miR-498 in regulating BRCA1 expression.
Q59538857MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated hereditary breast cancer in paraffin-embedded formalin-fixed breast tumors
Q34497352MicroRNA related polymorphisms and breast cancer risk
Q39947753Mitotic catastrophe cell death induced by heat shock protein 90 inhibitor in BRCA1-deficient breast cancer cell lines
Q34474039Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families
Q37295507Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers
Q33710107Molecular signature of response and potential pathways related to resistance to the HSP90 inhibitor, 17AAG, in breast cancer
Q36897003Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Q49024646Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations.
Q50211868Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
Q52675313MyD88 and TLR4 Expression in Epithelial Ovarian Cancer.
Q37356243Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.
Q30374367No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Q37079859No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
Q60895676Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients
Q36280191Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
Q34610274Oxidative stress in susceptibility to breast cancer: study in Spanish population
Q28584533PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Q47143943PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
Q90065819POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas
Q34289136Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Q63315276Parental origin of chromosomal non-disjunction in a 49,XXXXY male using recombinant-DNA techniques
Q28265304Pathology and gene expression of hereditary breast tumors associated with BRCA1, BRCA2 and CHEK2 gene mutations
Q112572520Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
Q36873786Performance of automated scoring of ER, PR, HER2, CK5/6 and EGFR in breast cancer tissue microarrays in the Breast Cancer Association Consortium
Q58575585Pharmacogenetic 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
Q62583133Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Q71077279Polymorphic variations in peripherin-RDS gene in the Spanish population
Q73288941Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A
Q36066735Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression
Q68786748Possible correlation between a specific alteration t(7;14) and the rearrangement of TCR observed in a Sézary's syndrome
Q42481495Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype
Q36356727Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
Q36583004Prediction of breast cancer risk based on profiling with common genetic variants
Q36168475Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)
Q37221493Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies.
Q37350137Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups
Q70220417Prognostic value of complex karyotypes in patients with simple refractory anemia
Q55508030Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.
Q90242034Publisher Correction: Shared heritability and functional enrichment across six solid cancers
Q36512097RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
Q36009422RAD51B in Familial Breast Cancer
Q50931586RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.
Q64040197RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility
Q28730692Rare mutations in XRCC2 increase the risk of breast cancer
Q42672216Rare variants in XRCC2 as breast cancer susceptibility alleles
Q34397860Recurrence of Down syndrome associated with microchromosome
Q45951126Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.
Q55489337Serial cytogenetic study of a human glioma cell line.
Q61118451Shared heritability and functional enrichment across six solid cancers
Q64004349Shared heritability and functional enrichment across six solid cancers
Q45307519Somatic stability in chorionic villi samples and other Huntington fetal tissues
Q44037503Study of the parental origin of sexual aneuploidy in ten families using RFLPs.
Q45205328Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma
Q36921422The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin
Q49817640The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Q57306076The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features
Q36415308The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients
Q39893596The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer
Q37401496The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
Q57306216The importance of replication in gene-gene interaction studies: multifactor dimensionality reduction applied to a two-stage breast cancer case-control study
Q36142060The role of genetic breast cancer susceptibility variants as prognostic factors
Q57265670The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain
Q47884482The wide spectrum of POT1 gene variants correlates with multiple cancer types.
Q41684224Translocation of a supernumerary Y to a 15: Study of six cases (three males and three females) in three generations
Q45289222Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease
Q72458773Trisomy 14 in a case of sideroblastic refractory anemia
Q53474457Tumor microRNA expression profiling identifies circulating microRNAs for early breast cancer detection.
Q63315283Two fertile Turner women in a family
Q57463778Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer
Q34586198Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles
Q122925830p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study
Q37414133rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

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