| human | Q5 |
| P227 | GND ID | 133801624 |
| P496 | ORCID iD | 0000-0002-9458-0282 |
| P1053 | ResearcherID | J-8620-2012 |
| P214 | VIAF ID | 2123160791858102860005 |
| P108 | employer | Hannover Medical School | Q911561 |
| P106 | occupation | biochemist | Q2919046 |
| P21 | sex or gender | male | Q6581097 |
| Q36016386 | 11q13 is a susceptibility locus for hormone receptor positive breast cancer |
| Q37169873 | 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium |
| Q62583361 | A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction |
| Q40510385 | A HinfI polymorphism in the cystic fibrosis gene CFTR. |
| Q64948510 | A Splice Site Variant of CDK12 and Breast Cancer in Three Eurasian Populations. |
| Q59355837 | A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk |
| Q57250674 | A common coding variant in CASP8 is associated with breast cancer risk |
| Q62583371 | A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator |
| Q62583364 | A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA |
| Q38348773 | A frequent polymorphism of the gene mutated in ataxia telangiectasia |
| Q33747778 | A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. |
| Q29417084 | A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. |
| Q37619303 | A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium |
| Q36477652 | A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease |
| Q92711687 | A network analysis to identify mediators of germline-driven differences in breast cancer prognosis |
| Q57304782 | A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype |
| Q50894590 | A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome. |
| Q40745220 | A new type of mutation causes a splicing defect in ATM. |
| Q59237589 | A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer |
| Q41976697 | A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. |
| Q34141568 | A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis |
| Q62583369 | A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening |
| Q37599352 | A role for XRCC2 gene polymorphisms in breast cancer risk and survival |
| Q67467298 | A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients |
| Q57305942 | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer |
| Q33960818 | A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity |
| Q53236337 | ATM missense variant P1054R predisposes to prostate cancer. |
| Q36626035 | ATM polymorphisms as risk factors for prostate cancer development |
| Q35213158 | ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control |
| Q39235192 | Aberrant overexpression of miR-421 downregulates ATM and leads to a pronounced DSB repair defect and clinical hypersensitivity in SKX squamous cell carcinoma |
| Q38406780 | Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study |
| Q52647897 | Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study. |
| Q39437211 | Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers |
| Q42371458 | Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci |
| Q39198367 | Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe |
| Q62583355 | Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection |
| Q44712404 | Apoptosis gene polymorphisms and risk of prostate cancer: a hospital-based study of German patients treated with brachytherapy |
| Q30276986 | Assessing the genetic architecture of epithelial ovarian cancer histological subtypes |
| Q47195947 | Assessment of a FBXW8 frameshift mutation, c.1312_1313delGT, in breast cancer patients and controls from Central Europe |
| Q40381692 | Assessment of an APOBEC3B truncating mutation, c.783delG, in patients with breast cancer |
| Q37684409 | Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer |
| Q45979098 | Association analysis identifies 65 new breast cancer risk loci. |
| Q37292963 | Association of ESR1 gene tagging SNPs with breast cancer risk |
| Q37684672 | Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. |
| Q62583329 | Association of chromosomal locus 8q24 and risk of prostate cancer: A hospital-based study of German patients treated with brachytherapy |
| Q37268494 | Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry |
| Q96680596 | Association of genomic variants at the Human Leukocyte Antigen locus with cervical cancer risk, HPV status, and gene expression |
| Q114182713 | Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment |
| Q62583339 | Association of two mutations in theCHEK2 gene with breast cancer |
| Q39423088 | Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study |
| Q119213340 | Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival |
| Q35022847 | Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies |
| Q35532898 | Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium |
| Q57056093 | Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis |
| Q95802094 | Auditory hallucinations and perception of external speech |
| Q92377257 | BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation |
| 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 |
| Q62583347 | Bilaterales Mammakarzinom und Lokalrezidiv: Prävalenz von BRCA-1- und BRCA-2-Genmutationen an einem unselektionierten Kollektiv |
| Q46115524 | Body mass index and breast cancer survival: a Mendelian randomization analysis |
| Q100457582 | Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk |
| Q62583341 | Breast cancer in female carriers of ATM gene alterations: outcome of adjuvant radiotherapy |
| Q40249058 | Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy |
| Q34327945 | Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2 |
| Q35940158 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. |
| Q62583344 | Brustkrebs und Strahlensensibilität: eine gemeinsame erbliche Veranlagung? Eine Übersicht |
| Q33885830 | CFTR gene mutations and male infertility. |
| Q62583335 | CHEK2 Mutation and Hereditary Breast Cancer |
| Q36449203 | CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer |
| Q36419325 | CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer |
| Q34793437 | CYP2B6*6 is associated with increased breast cancer risk |
| Q40756048 | Candidate gene variants of the immune system and sudden infant death syndrome. |
| Q28385765 | Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk |
| Q38329510 | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. |
| Q34508648 | Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. |
| Q35782435 | Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer |
| Q47101755 | Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings |
| Q47352811 | Clinical radiosensitivity in breast cancer patients carrying pathogenic ATM gene mutations: no observation of increased radiation-induced acute or late effects |
| Q33627208 | Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients |
| Q35668946 | Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk |
| Q36490507 | Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). |
| Q34379032 | Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium |
| Q29417145 | Common variants at 19p13 are associated with susceptibility to ovarian cancer |
| Q36255665 | Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer |
| Q115209587 | Common variants in breast cancer risk loci predispose to distinct tumor subtypes |
| Q31082788 | Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) |
| Q62583365 | Complex mutation 4114 ATA → TT in Exon 22 of the cystic fibrosis gene CFTR |
| Q36026731 | Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer |
| Q34181322 | Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer |
| Q34342248 | Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk |
| Q57278898 | Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) |
| Q101216461 | Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers |
| Q43075561 | Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study. |
| Q44589055 | Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene |
| Q40772544 | Cystic fibrosis: the impact of analytical technology for genotype-phenotype studies |
| Q47880727 | Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator |
| Q44140167 | Detection of 100% of the CFTR mutations in 63 CF families from Tyrol |
| Q71656273 | Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients |
| Q62583352 | Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens |
| Q44782268 | Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population |
| Q62583332 | Diversity of the basic defect of homozygous CFTR mutation genotypes in humans |
| Q27851413 | Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium |
| Q46168959 | Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations |
| Q53316752 | Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. |
| Q38720533 | Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci |
| Q24633316 | Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer |
| Q36487146 | Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk |
| Q57250672 | Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk |
| Q57319395 | Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer |
| Q36966218 | Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study |
| Q40326196 | Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy |
| Q91549968 | Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk |
| Q35653910 | Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk |
| Q24539127 | Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations |
| Q90931747 | Evidence for an association of interferon gene variants with sudden infant death syndrome |
| Q99367146 | Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM |
| 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 |
| Q47549687 | Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene |
| Q91389910 | Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39 |
| Q71604175 | Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations |
| Q37594336 | FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium |
| Q37307305 | Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls |
| Q40618684 | Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy |
| 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 |
| 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 |
| Q92480972 | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes |
| Q35063160 | Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk |
| 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. |
| Q37002930 | Five endometrial cancer risk loci identified through genome-wide association analysis |
| Q34979715 | Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium |
| Q62583362 | Four Novel Cystic Fibrosis Mutations in Splice Junction Sequences Affecting the CFTR Nucleotide Binding Folds |
| Q51208799 | Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk. |
| Q33853807 | Frequency of BRCA1 mutation 5382insC in German breast cancer patients. |
| Q91016919 | Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus. |
| Q114182808 | Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element |
| Q28243858 | Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways |
| Q91723570 | Functional classification of ATM variants in ataxia-telangiectasia patients |
| Q40564238 | Functional consequences of ATM sequence variants for chromosomal radiosensitivity |
| Q33859206 | Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line |
| Q42366538 | Functional dissection of breast cancer risk-associated TERT promoter variants |
| Q36124728 | Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus |
| Q58047816 | Functional polymorphisms in the TERT promoter are associated with risk of serious ovarian and breast cancer |
| Q34031757 | Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers |
| Q36742577 | Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers |
| Q36956156 | GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer |
| Q62583319 | Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk |
| Q37389405 | Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer |
| Q101133544 | Genetic association study of fatal pulmonary embolism |
| Q45286484 | Genetic determinants in cystic fibrosis |
| Q62583367 | Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis |
| Q37739048 | Genetic modifiers of CHEK2*1100delC-associated breast cancer risk |
| Q54940815 | Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. |
| 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 |
| 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 |
| Q92387949 | Genetically Predicted Levels of DNA Methylation Biomarkers and Breast Cancer Risk: Data From 228 951 Women of European Descent |
| 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 |
| Q92768535 | Genome-wide SNP typing of ancient DNA: Determination of hair and eye color of Bronze Age humans from their skeletal remains |
| 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 |
| Q37202841 | Genome-wide association study for ovarian cancer susceptibility using pooled DNA. |
| Q95329367 | Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses |
| Q36024614 | Genome-wide association study identifies a possible susceptibility locus for endometrial cancer |
| Q24645441 | Genome-wide association study identifies novel breast cancer susceptibility loci |
| Q64040390 | Genome-wide association study of germline variants and breast cancer-specific mortality |
| Q33778612 | Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. |
| Q44205156 | Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency. |
| Q92021933 | Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations |
| Q53031719 | Genotype-phenotype correlations in cystic fibrosis patients. |
| Q45033390 | Geographic distribution and origin of CFTR mutations in Germany |
| Q96432094 | Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk |
| Q36276527 | Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer |
| Q114182677 | Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis |
| Q34158129 | Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome |
| Q40053289 | Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene |
| Q62583321 | Guideline adherence and clinical outcome in vulnerable and healthy breast cancer patients: Results of a prospective cross-sectional study in Germany |
| Q47186153 | Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers |
| Q57304726 | Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphicCFTR DNA markers |
| Q36276540 | Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization |
| Q33356511 | Hereditary breast cancer: ever more pieces to the polygenic puzzle |
| Q33330850 | Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics |
| Q62583327 | High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus |
| Q40060927 | History of Comorbidities and Survival of Ovarian Cancer Patients, Results from the Ovarian Cancer Association Consortium |
| Q38619748 | History of thyroid disease and survival of ovarian cancer patients: results from the Ovarian Cancer Association Consortium, a brief report |
| Q37189141 | Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder |
| Q90650843 | Human RAD50 deficiency: Confirmation of a distinctive phenotype |
| Q47401275 | IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer |
| Q35102646 | Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk |
| Q37006170 | Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. |
| Q36720814 | Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk |
| Q112717190 | Identification of a Locus Near ULK1 Associated With Progression-Free Survival in Ovarian Cancer |
| Q36086247 | Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus |
| Q57170142 | Identification of nine new susceptibility loci for endometrial cancer |
| Q29417022 | Identification of seven new prostate cancer susceptibility loci through a genome-wide association study |
| 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 |
| Q62583330 | Immaturity, perinatal inflammation, and retinopathy of prematurity: A multi-hit hypothesis |
| Q57304614 | Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene |
| Q114184688 | Incorporating progesterone receptor expression into the PREDICT breast prognostic model |
| Q50910456 | Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. |
| Q42038231 | Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene |
| Q62583345 | Indicators of late normal tissue response after radiotherapy for head and neck cancer: fibroblasts, lymphocytes, genetics, DNA repair, and chromosome aberrations |
| Q37684424 | Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration |
| Q35104068 | Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer |
| Q45874785 | Inhibitor-immunology-study. Evaluation of inhibitor development in haemophilia B. |
| Q48423030 | Interleukin-10 high producer allele and ultrasound-defined periventricular white matter abnormalities in preterm infants: a preliminary study. |
| Q48188173 | Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families |
| 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 |
| Q91707917 | Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1 |
| Q40285577 | Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency |
| Q35119701 | Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium |
| Q43075321 | Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis |
| Q51908659 | Lymphatic capillary hypoplasia in the skin of fetuses with increased nuchal translucency and Turner's syndrome: comparison with trisomies and controls. |
| Q50434602 | MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child. |
| Q62583337 | MUltiplex Measurement of Cytokine/Receptor Gene Polymorphisms and interaction Between Interleukin-10 (-1082) Genotype and Chorioamnionitis in Extreme Preterm Delivery |
| Q114182490 | Mendelian randomisation study of smoking exposure in relation to breast cancer risk |
| Q98772941 | Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer |
| Q36333368 | Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. |
| Q34497352 | MicroRNA related polymorphisms and breast cancer risk |
| Q43609413 | Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR. |
| Q62583350 | Missense mutations at ATM gene and cancer risk |
| Q33894683 | Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer |
| Q34123806 | Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls |
| Q38062279 | Mitochondrial dysfunction in a novel form of autosomal recessive ataxia |
| Q37181547 | Molecular genetics of breast and ovarian cancer: recent advances and clinical implications |
| Q36897003 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer |
| Q30491647 | Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium |
| Q62583349 | Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation in comparison to ataxia telangiectasia heterozygote cells |
| Q34460831 | Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer |
| Q37499453 | Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer |
| Q33320072 | Mutation analysis of the MDM4 gene in German breast cancer patients |
| Q51431905 | Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. |
| Q43075411 | Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland |
| Q34160932 | Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis |
| Q36643361 | Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer |
| Q47799545 | Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. |
| Q62583334 | NBS1 variant I171V and breast cancer risk |
| Q114032161 | NK Cell-Mediated Eradication of Ovarian Cancer Cells with a Novel Chimeric Antigen Receptor Directed against CD44 |
| Q26799669 | Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk |
| Q35528090 | Neuregulin receptor ErbB4 functions as a transcriptional cofactor for the expression of surfactant protein B in the fetal lung |
| Q51908335 | Neuregulin-1 high-producer genotype is associated with a decreased risk of admission to the neonatal intensive care unit. |
| Q33912673 | Neuregulin-1, the fetal endothelium, and brain damage in preterm newborns |
| Q34037422 | New mutations in the ATM gene and clinical data of 25 AT patients |
| Q37356243 | Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. |
| Q43773075 | Nijmegen Breakage Syndrome mutations and risk of breast cancer |
| Q30275832 | No Evidence That Genetic Variation in the Myeloid-Derived Suppressor Cell Pathway Influences Ovarian Cancer Survival |
| 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 |
| Q42616265 | Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths |
| Q47847793 | Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations |
| Q55068804 | Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. |
| Q33679861 | Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. |
| Q24291081 | Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping |
| Q35795253 | PALB2 mutations in German and Russian patients with bilateral breast cancer |
| Q28584533 | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS |
| Q95543220 | PCR-based analysis of cystic fibrosis mutations specific for Saudi patients |
| Q47143943 | PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. |
| Q37353838 | PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations |
| Q112572520 | Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes |
| Q37307937 | Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium |
| Q112722799 | Persistent DNA Double-Strand Breaks After Repeated Diagnostic CT Scans in Breast Epithelial Cells and Lymphocytes |
| Q62583133 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes |
| Q36066735 | Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression |
| Q40710882 | Polymorphisms in genes of respiratory control and sudden infant death syndrome |
| Q36915870 | Polymorphisms in inflammation pathway genes and endometrial cancer risk |
| Q33921008 | Polymorphisms in stromal genes and susceptibility to serous epithelial ovarian cancer: a report from the Ovarian Cancer Association Consortium |
| Q47844333 | Polymorphisms of the human beta-defensin-1 gene. |
| Q34483516 | Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649). |
| Q36583004 | Prediction of breast cancer risk based on profiling with common genetic variants |
| Q44242400 | Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe |
| Q51116126 | Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. |
| Q34212196 | Prostate cancer risk is not altered by TP53AIP1 germline mutations in a German case-control series |
| Q39042690 | Protective role of RAD50 on chromatin bridges during abnormal cytokinesis |
| 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 |
| Q39008812 | RAD50 phosphorylation promotes ATR downstream signaling and DNA restart following replication stress. |
| Q92458487 | RAD50 regulates mitotic progression independent of DNA repair functions |
| Q36009422 | RAD51B in Familial Breast Cancer |
| Q38490549 | Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting |
| Q40728414 | Rare ATAD5 missense variants in breast and ovarian cancer patients |
| Q114182625 | Rare germline copy number variants (CNVs) and breast cancer risk |
| Q46760859 | Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region |
| Q90821315 | Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry |
| Q62583340 | Re: correspondence from Dr. Michael Swift, Disease Insight Research Foundation, concerning Gutiérrez-Enríquez S, Fernet M, Dörk T, Bremer M, Lauge A, Stoppa-Lyonnet D, Moullan N, Angèle S, Hall J, “Functional consequences of the ATM sequence va |
| Q92625144 | Recommendations Related to Genetic Testing for Breast Cancer |
| Q30276610 | Recreational physical inactivity and mortality in women with invasive epithelial ovarian cancer: evidence from the Ovarian Cancer Association Consortium |
| Q35155449 | Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia |
| Q57672627 | Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria |
| Q46824029 | Resveratrol modulates DNA double-strand break repair pathways in an ATM/ATR-p53- and -Nbs1-dependent manner |
| Q35815958 | Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci |
| Q37624504 | Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10 |
| Q48019854 | SFRP1 CpG island methylation locus is associated with renal cell cancer susceptibility and disease recurrence |
| Q29417074 | Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study |
| Q62583368 | Severe splice site mutation preceding exon 9 of the CFTR gene |
| Q62583357 | Severity of disease in cystic fibrosis |
| Q36089391 | Shared genetics underlying epidemiological association between endometriosis and ovarian cancer |
| Q61118451 | Shared heritability and functional enrichment across six solid cancers |
| Q64004349 | Shared heritability and functional enrichment across six solid cancers |
| Q62583342 | Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations |
| Q43425193 | Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk |
| Q43813974 | TGFB1 gene polymorphism Leu10Pro (c.29T>C), prostate cancer incidence and quality of life in patients treated with brachytherapy |
| Q34408038 | TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study |
| Q24321469 | Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues |
| Q49817640 | The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. |
| Q91178389 | The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer |
| Q60487433 | The association between weight at birth and breast cancer risk revisited using Mendelian randomisation |
| Q64239462 | The association between weight at birth and breast cancer risk revisited using Mendelian randomisation |
| Q57755117 | The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia |
| Q62583324 | The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia |
| Q35024008 | The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing |
| Q36142060 | The role of genetic breast cancer susceptibility variants as prognostic factors |
| Q59237272 | The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing |
| Q92952990 | Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report |
| Q62583358 | Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients |
| Q89961489 | Transcriptome-wide association study of breast cancer risk by estrogen-receptor status |
| Q92994868 | Two truncating variants in FANCC and breast cancer risk |
| Q56342454 | Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility |
| Q40648069 | Variation in radiation-induced apoptosis in ataxia telangiectasia lymphoblastoid cell lines. |
| Q49710400 | [The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing]. |
| Q37414133 | rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk |
| Q56334023 | rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology |
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