human | Q5 |
P496 | ORCID iD | 0000-0002-0923-7202 |
P1053 | ResearcherID | H-5232-2015 |
P69 | educated at | Complutense University of Madrid | Q219694 |
P108 | employer | National Center for Oncological Research | Q5761421 |
P735 | given name | Javier | Q1142232 |
Javier | Q1142232 | ||
P106 | occupation | researcher | Q1650915 |
P21 | sex or gender | male | Q6581097 |
Q57305908 | 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 |
Q44276388 | A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer |
Q60895684 | A Multiparametric Study of Malignant Lymphoma of Mucosa Associated Lymphoid Tissue (Malt) |
Q59355837 | A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk |
Q64040629 | A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers |
Q57250674 | A common coding variant in CASP8 is associated with breast cancer risk |
Q61937452 | A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis |
Q93093179 | A genetic origin for acid-base imbalance triggers the mitochondrial damage that explains the autoimmune response and drives to gastric neuroendocrine tumours |
Q37305896 | 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 |
Q35089479 | 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 |
Q35786931 | A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families |
Q67518285 | A point mutation changes the polymorphisms pattern in a cystic fibrosis carrier family |
Q57305942 | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer |
Q54650046 | Allelic expression and quantitative RT-PCR study of TAp73 and DeltaNp73 in non-Hodgkin's lymphomas. |
Q39134402 | Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene |
Q36882665 | An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers |
Q36073563 | An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression |
Q35618307 | An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers |
Q42371458 | Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci |
Q35242849 | Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers |
Q35218520 | Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy |
Q45979098 | Association analysis identifies 65 new breast cancer risk loci. |
Q37292963 | Association of ESR1 gene tagging SNPs with breast cancer risk |
Q36178189 | 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. |
Q37684672 | Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. |
Q37268494 | Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry |
Q56337548 | Association of p16 expression with prognosis varies across ovarian carcinoma histotypes: an Ovarian Tumor Tissue Analysis consortium study |
Q35957703 | Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer |
Q35523236 | Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers |
Q57056093 | Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis |
Q63315268 | Autosomal dominant Retinitis Pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus |
Q57239856 | BRCA1 CpG Island Hypermethylation Predicts Sensitivity to Poly(Adenosine Diphosphate)- Ribose Polymerase Inhibitors |
Q37261138 | BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk |
Q40886401 | BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study. |
Q38914005 | BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer |
Q37002955 | BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers |
Q28115349 | BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping |
Q46115524 | Body mass index and breast cancer survival: a Mendelian randomization analysis |
Q35940158 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. |
Q69017311 | C-band pattern in patients with nervous system tumors |
Q36998293 | COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration |
Q44135480 | Cancer epigenetics and methylation |
Q34963894 | Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers |
Q38614203 | Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes. |
Q44760395 | Chromosomal patterns in human malignant astrocytomas |
Q35993186 | Classifying early-onset colorectal cancer according to tumor location: new potential subcategories to explore |
Q36839777 | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers |
Q34394665 | Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction |
Q36600605 | Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk |
Q36856357 | Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls |
Q35794653 | Common germline polymorphisms associated with breast cancer-specific survival |
Q35870067 | 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 |
Q91090014 | Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers |
Q43717555 | Correlation between cytogenetic and molecular analysis of t(14;18) in follicular lymphomas |
Q61822365 | Correlation between mutations in p53 gene and protein expression in human lymphomas |
Q30660858 | Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer |
Q57221272 | Cytogenetic and molecular studies of siblings with ataxia telangiectasia followed for 7 years |
Q44202319 | Cytogenetic characterization reveals that the SAM-1 erythroid cell line is derived from K-562 cells |
Q60895691 | Cytogenetic study of B-cell lymphoma of mucosa-associated lymphoid tissue |
Q64049502 | DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onset |
Q21144874 | DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers |
Q43829640 | DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis |
Q38864434 | DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers |
Q38485176 | De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19. |
Q50416430 | Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1. |
Q28748212 | Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting |
Q96590073 | Development and validation of the gene-expression Predictor of high-grade-serous Ovarian carcinoma molecular subTYPE (PrOTYPE) |
Q43924266 | Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer. |
Q55110745 | E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium. |
Q64048324 | ECL-cell carcinoids and carcinoma in patients homozygous for an inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit |
Q24531005 | Epigenetic differences arise during the lifetime of monozygotic twins |
Q57250672 | Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk |
Q57272206 | Estrogen Receptor Status Could Modulate the Genomic Pattern in Familial and Sporadic Breast Cancer |
Q51766497 | Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation. |
Q36617728 | European multicenter study on LOH of APOC3 at 11q23 in 766 breast cancer patients: relation to clinical variables. Breast Cancer Somatic Genetics Consortium |
Q33614244 | Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers |
Q37745041 | Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers |
Q33894527 | 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 |
Q35064451 | Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation |
Q37342144 | Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation |
Q40039502 | Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients |
Q47726410 | Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer |
Q46773237 | Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour. |
Q43793379 | Expression of CYP3A4 as a predictor of response to chemotherapy in peripheral T-cell lymphomas |
Q54707035 | Expression profiling of T-cell lymphomas differentiates peripheral and lymphoblastic lymphomas and defines survival related genes. |
Q35999309 | FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor |
Q37236216 | Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). |
Q36111237 | Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus |
Q36087170 | Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers |
Q35524465 | Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. |
Q61230414 | Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes |
Q39844032 | Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer |
Q36248936 | Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk |
Q34903062 | Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. |
Q37367871 | Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. |
Q34979715 | Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium |
Q63315280 | Frequency of constitutional chromosome alterations in patients with hematologic neoplasias |
Q36124728 | Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus |
Q36742577 | Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers |
Q62583319 | Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk |
Q33395472 | Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies |
Q35445014 | Genetic and epigenetic profile of sporadic pheochromocytomas |
Q38294863 | Genetic instability of microsatellites in hematological neoplasms |
Q53286130 | Genetic polymorphisms in DNA repair and oxidative stress pathways associated with malignant melanoma susceptibility. |
Q35925620 | Genetic predisposition to ductal carcinoma in situ of the breast |
Q35151684 | Genetic predisposition to in situ and invasive lobular carcinoma of the breast |
Q35179897 | Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study |
Q34378972 | Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade |
Q49569666 | Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers. |
Q36422109 | 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 |
Q30000080 | Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent |
Q45024538 | Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21. |
Q28388497 | Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types |
Q36842233 | Genome-wide association analysis identifies three new breast cancer susceptibility loci |
Q35996692 | Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer |
Q63681757 | Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer |
Q24622610 | Genome-wide association studies identify four ER negative-specific breast cancer risk loci |
Q24645441 | Genome-wide association study identifies novel breast cancer susceptibility loci |
Q27008356 | Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk |
Q64040390 | Genome-wide association study of germline variants and breast cancer-specific mortality |
Q53228400 | Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. |
Q33296082 | Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies |
Q59566871 | Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility |
Q38823212 | Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk |
Q64975021 | Genomic characterization of individuals presenting extreme phenotypes of high and low risk to develop tobacco-induced lung cancer. |
Q38741192 | 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. |
Q35114576 | Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer |
Q34385784 | Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study |
Q35382206 | Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers |
Q57471595 | Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study |
Q36276540 | Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization |
Q37121271 | High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium |
Q60895674 | Hypermethylation of a 5′ CpG island of p16 is a frequent event in non-Hodgkin’s lymphoma |
Q47929820 | Hypermethylation of p15/ink4b/MTS2 gene is differentially implicated among non-Hodgkin's lymphomas |
Q35102646 | Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk |
Q30252854 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer |
Q36720814 | Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk |
Q36859142 | Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer |
Q36086247 | Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus |
Q36014067 | Identification of novel genetic markers of breast cancer survival |
Q35541663 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer |
Q46103372 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer |
Q61822348 | In Reply |
Q38610326 | Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility |
Q37410472 | Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women |
Q35104068 | Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer |
Q34898735 | Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors |
Q57191573 | Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair |
Q28267893 | Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair |
Q29416989 | Large-scale genotyping identifies 41 new loci associated with breast cancer risk |
Q68985163 | Leukemic transformation in patients with the 5q- alteration: analysis of the behavior of the 5q- clones in preleukemic to leukemic phases |
Q68083808 | Linkage disequilibrium between cystic fibrosis locus and three DNA markers, XV-2c, KM19 and MP6d-9, in 43 Spanish families |
Q63315266 | Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q |
Q59539067 | Loss of heterozygosity at 11q23.1 and survival in breast cancer: Results of a large European study |
Q31043651 | Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. |
Q92860654 | Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers |
Q37190254 | MicroRNA deregulation in triple negative breast cancer reveals a role of miR-498 in regulating BRCA1 expression. |
Q59538857 | MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated hereditary breast cancer in paraffin-embedded formalin-fixed breast tumors |
Q34497352 | MicroRNA related polymorphisms and breast cancer risk |
Q39947753 | Mitotic catastrophe cell death induced by heat shock protein 90 inhibitor in BRCA1-deficient breast cancer cell lines |
Q34474039 | Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families |
Q37295507 | Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers |
Q33710107 | Molecular signature of response and potential pathways related to resistance to the HSP90 inhibitor, 17AAG, in breast cancer |
Q36897003 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer |
Q49024646 | Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations. |
Q50211868 | Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening. |
Q52675313 | MyD88 and TLR4 Expression in Epithelial Ovarian Cancer. |
Q37356243 | Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. |
Q30374367 | No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. |
Q37079859 | No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing |
Q60895676 | Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients |
Q36280191 | Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers |
Q34610274 | Oxidative stress in susceptibility to breast cancer: study in Spanish population |
Q28584533 | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS |
Q47143943 | PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. |
Q90065819 | POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas |
Q34289136 | Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche |
Q63315276 | Parental origin of chromosomal non-disjunction in a 49,XXXXY male using recombinant-DNA techniques |
Q28265304 | Pathology and gene expression of hereditary breast tumors associated with BRCA1, BRCA2 and CHEK2 gene mutations |
Q112572520 | Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes |
Q36873786 | Performance of automated scoring of ER, PR, HER2, CK5/6 and EGFR in breast cancer tissue microarrays in the Breast Cancer Association Consortium |
Q58575585 | 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 |
Q62583133 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes |
Q71077279 | Polymorphic variations in peripherin-RDS gene in the Spanish population |
Q73288941 | Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A |
Q36066735 | Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression |
Q68786748 | Possible correlation between a specific alteration t(7;14) and the rearrangement of TCR observed in a Sézary's syndrome |
Q42481495 | Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype |
Q36356727 | Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores |
Q36583004 | Prediction of breast cancer risk based on profiling with common genetic variants |
Q36168475 | Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS) |
Q37221493 | Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies. |
Q37350137 | Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups |
Q70220417 | Prognostic value of complex karyotypes in patients with simple refractory anemia |
Q55508030 | Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. |
Q90242034 | Publisher Correction: Shared heritability and functional enrichment across six solid cancers |
Q36512097 | RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies |
Q36009422 | RAD51B in Familial Breast Cancer |
Q50931586 | RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families. |
Q64040197 | RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility |
Q28730692 | Rare mutations in XRCC2 increase the risk of breast cancer |
Q42672216 | Rare variants in XRCC2 as breast cancer susceptibility alleles |
Q34397860 | Recurrence of Down syndrome associated with microchromosome |
Q45951126 | Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study. |
Q55489337 | Serial cytogenetic study of a human glioma cell line. |
Q61118451 | Shared heritability and functional enrichment across six solid cancers |
Q64004349 | Shared heritability and functional enrichment across six solid cancers |
Q45307519 | Somatic stability in chorionic villi samples and other Huntington fetal tissues |
Q44037503 | Study of the parental origin of sexual aneuploidy in ten families using RFLPs. |
Q45205328 | Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma |
Q36921422 | The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin |
Q49817640 | The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. |
Q57306076 | The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features |
Q36415308 | The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients |
Q39893596 | The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer |
Q37401496 | The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers |
Q57306216 | The importance of replication in gene-gene interaction studies: multifactor dimensionality reduction applied to a two-stage breast cancer case-control study |
Q36142060 | The role of genetic breast cancer susceptibility variants as prognostic factors |
Q57265670 | The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain |
Q47884482 | The wide spectrum of POT1 gene variants correlates with multiple cancer types. |
Q41684224 | Translocation of a supernumerary Y to a 15: Study of six cases (three males and three females) in three generations |
Q45289222 | Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease |
Q72458773 | Trisomy 14 in a case of sideroblastic refractory anemia |
Q53474457 | Tumor microRNA expression profiling identifies circulating microRNAs for early breast cancer detection. |
Q63315283 | Two fertile Turner women in a family |
Q57463778 | Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer |
Q34586198 | Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles |
Q122925830 | p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study |
Q37414133 | rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk |
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