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List of works by Thilo Dörk

11q13 is a susceptibility locus for hormone receptor positive breast cancer

scientific article

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

scientific article published on 02 August 2012

A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction

article

A HinfI polymorphism in the cystic fibrosis gene CFTR.

scientific article published on May 1991

A Splice Site Variant of CDK12 and Breast Cancer in Three Eurasian Populations.

scientific article published on 14 June 2019

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

article

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

article

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator

scientific article published on 01 January 1992

A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA

scientific article published on 01 November 1993

A frequent polymorphism of the gene mutated in ataxia telangiectasia

scientific article published on February 1997

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.

scientific article

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

scientific article published on 19 September 2010

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

scientific article

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

scientific article

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

scientific article published on 16 January 2020

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype

article

A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome

scientific article published in January 1998

A new type of mutation causes a splicing defect in ATM.

scientific article published on 11 March 2002

A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer

article

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.

scientific article published on March 1995

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

scientific article

A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening

article

A role for XRCC2 gene polymorphisms in breast cancer risk and survival

scientific article published on 31 May 2011

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients

scientific article published on 01 November 1992

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

scientific article published on 18 June 2018

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

scientific article

ATM missense variant P1054R predisposes to prostate cancer

scientific article published on 14 May 2007

ATM polymorphisms as risk factors for prostate cancer development

scientific article published on August 2004

ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control

scientific article

Aberrant overexpression of miR-421 downregulates ATM and leads to a pronounced DSB repair defect and clinical hypersensitivity in SKX squamous cell carcinoma

scientific article published on 28 November 2012

Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study

scientific article published on 10 July 2016

Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study

scientific article published on 20 March 2018

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

scientific article

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

scientific article published on 15 June 2017

Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe

scientific article published on 10 November 2016

Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection

scientific article published on 01 October 1995

Apoptosis gene polymorphisms and risk of prostate cancer: a hospital-based study of German patients treated with brachytherapy

scientific article

Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

scientific article

Assessment of a FBXW8 frameshift mutation, c.1312_1313delGT, in breast cancer patients and controls from Central Europe

scientific article published on 28 November 2017

Assessment of an APOBEC3B truncating mutation, c.783delG, in patients with breast cancer

scientific article published on 6 January 2017

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer

scientific article published on 21 June 2016

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association of ESR1 gene tagging SNPs with breast cancer risk

scientific article published on 06 January 2009

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

scientific article published on 21 October 2016

Association of chromosomal locus 8q24 and risk of prostate cancer: A hospital-based study of German patients treated with brachytherapy

article

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

scientific article published on 06 April 2016

Association of genomic variants at the Human Leukocyte Antigen locus with cervical cancer risk, HPV status, and gene expression

scientific article published on 24 June 2020

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

scientific article published on 18 August 2021

Association of two mutations in theCHEK2 gene with breast cancer

article

Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study

scientific article published on 4 September 2016

Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

scholarly article

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

scientific article

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

scientific article published on 18 August 2011

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

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

Auditory hallucinations and perception of external speech

scientific article published in October 1995

BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation

scientific article published on 28 May 2019

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

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

scientific article

Bilaterales Mammakarzinom und Lokalrezidiv: Prävalenz von BRCA-1- und BRCA-2-Genmutationen an einem unselektionierten Kollektiv

scientific article published on 01 July 2001

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

scientific article published in December 2017

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast cancer in female carriers of ATM gene alterations: outcome of adjuvant radiotherapy

article

Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy

scientific article published on 23 January 2007

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

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

scientific article

Brustkrebs und Strahlensensibilität: eine gemeinsame erbliche Veranlagung? Eine Übersicht

CFTR gene mutations and male infertility.

scientific article

CHEK2 Mutation and Hereditary Breast Cancer

scientific article published on 01 July 2007

CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

scientific article

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

scientific article

CYP2B6*6 is associated with increased breast cancer risk

scientific article

Candidate gene variants of the immune system and sudden infant death syndrome.

scientific article published on 14 March 2016

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

scientific article published in February 2015

Causation and causal inference in obstetrics-gynecology

scientific article published in 2022

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

scientific article

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.

scientific article

Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer

scientific article published on 22 September 2015

Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings

scientific article published on 4 December 2017

Clinical radiosensitivity in breast cancer patients carrying pathogenic ATM gene mutations: no observation of increased radiation-induced acute or late effects

scientific article published in November 2003

Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients

scientific article

Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk

scientific article published on 19 June 2015

Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

scientific article

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

scientific article

Common variants at 19p13 are associated with susceptibility to ovarian cancer

scientific article

Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer

scientific article

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

scientific article published on 4 January 2022

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Complex mutation 4114 ATA → TT in Exon 22 of the cystic fibrosis gene CFTR

article

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

scientific article published in October 2015

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

scientific article

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers

scientific article published on 03 November 2020

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

scientific article published in November 2001

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

scientific article published in August 1991

Cystic fibrosis: the impact of analytical technology for genotype-phenotype studies

scientific article

Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator

scientific article published in May 1998

Detection of 100% of the CFTR mutations in 63 CF families from Tyrol

scientific article published in October 1997

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

scientific article published on 01 November 1994

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

article

Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population

scientific article published in September 1990

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

scientific article published on 01 January 2008

Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium

scientific article

Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations

scientific article published on 7 May 2014

Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations

scientific article published on 17 October 2008

Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

scientific article published on 19 January 2017

Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

scientific article published in 2013

Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk

scientific article

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

scholarly article published in Nature Genetics

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

scholarly article published in Nature Genetics

Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study

scientific article published on 17 December 2014

Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy

scientific article published on 16 February 2017

Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk

scientific article published on 16 July 2019

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

scientific article published on 27 October 2011

Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations

scientific article

Evidence for an association of interferon gene variants with sudden infant death syndrome

scientific article published on 08 January 2019

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM

scientific article published on 11 September 2020

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

scientific article

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

scientific article published on 03 September 2016

Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene

scientific article published on 24 January 2018

Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39

scientific article published on 21 November 2019

Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations

scientific article published on 01 January 1994

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

scientific article published on February 2014

Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls

scientific article published on January 2009

Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy

scientific article published on November 2003

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

scientific article published on 07 September 2016

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

scientific article

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

scientific article published on 4 February 2015

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

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Five endometrial cancer risk loci identified through genome-wide association analysis

scientific article published on 02 May 2016

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

scientific article

Four Novel Cystic Fibrosis Mutations in Splice Junction Sequences Affecting the CFTR Nucleotide Binding Folds

scientific article published on 01 March 1993

Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk

scientific article published on 10 August 2016

Frequency of BRCA1 mutation 5382insC in German breast cancer patients.

scientific article

Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.

scientific article

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

scientific article published in July 2021

Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways

scientific article (publication date: November 2011)

Functional classification of ATM variants in ataxia-telangiectasia patients

scientific article published on 17 May 2019

Functional consequences of ATM sequence variants for chromosomal radiosensitivity

scientific article published on June 2004

Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line

scientific article

Functional dissection of breast cancer risk-associated TERT promoter variants

scientific article published on 26 May 2017

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

scientific article published on 7 September 2016

Functional polymorphisms in the TERT promoter are associated with risk of serious ovarian and breast cancer

Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers

scientific article

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

scientific article published on 27 March 2013

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

scientific article published on April 2013

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

scientific article published on 17 December 2018

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer

scientific article published on 22 August 2016

Genetic association study of fatal pulmonary embolism

scientific article published on 30 October 2020

Genetic determinants in cystic fibrosis

scientific article published in March 1991

Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis

scientific article published on 01 January 1993

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

scientific article published on 2 April 2018

Genetic predisposition to ductal carcinoma in situ of the breast

scientific article published on 17 February 2016

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 30 November 2015

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

scientific article (publication date: August 2016)

Genetically Predicted Levels of DNA Methylation Biomarkers and Breast Cancer Risk: Data From 228 951 Women of European Descent

scientific article published on 01 March 2020

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

scientific article published in September 2016

Genome-wide SNP typing of ancient DNA: Determination of hair and eye color of Bronze Age humans from their skeletal remains

scientific article published on 20 January 2020

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

scientific article published on 22 January 2012

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

scientific article

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

article

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

scientific article published in April 2013

Genome-wide association study for ovarian cancer susceptibility using pooled DNA.

scientific article published on 13 July 2012

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study identifies a possible susceptibility locus for endometrial cancer

scientific article

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

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

scientific article published on 21 February 2019

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.

scientific article published on 5 November 2013

Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency.

scientific article published in March 1990

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

scientific article published on 28 February 2019

Genotype-phenotype correlations in cystic fibrosis patients

scientific article published in January 1991

Geographic distribution and origin of CFTR mutations in Germany

scientific article

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

scientific article published on 27 August 2015

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

scientific article published on 5 October 2021

Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome

scientific article

Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene

scientific article published on 3 March 2017

Guideline adherence and clinical outcome in vulnerable and healthy breast cancer patients: Results of a prospective cross-sectional study in Germany

article

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers

scientific article published in January 1996

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphicCFTR DNA markers

article

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

scientific article

Hereditary breast cancer: ever more pieces to the polygenic puzzle

scientific article

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

scientific article

High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus

scientific article published on 01 October 2010

History of Comorbidities and Survival of Ovarian Cancer Patients, Results from the Ovarian Cancer Association Consortium

scientific article published on September 2017

History of thyroid disease and survival of ovarian cancer patients: results from the Ovarian Cancer Association Consortium, a brief report

scientific article

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

scientific article published on 30 April 2009

Human RAD50 deficiency: Confirmation of a distinctive phenotype

scientific article published on 25 March 2020

IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer

scientific article published in May 2003

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

scientific article

Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.

scientific article published on January 2013

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

scientific article published on 27 March 2013

Identification of a Locus Near <i>ULK1</i> Associated With Progression-Free Survival in Ovarian Cancer

publication published on 23 June 2021

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

scientific article

Identification of nine new susceptibility loci for endometrial cancer

scientific article published in Nature Communications

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

scientific article

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

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

scientific article published on 23 October 2017

Immaturity, perinatal inflammation, and retinopathy of prematurity: A multi-hit hypothesis

scientific article published on 13 February 2009

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

article

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

scientific article published in 2022

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

scientific article published in January 1998

Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene

scientific article published on November 1994

Indicators of late normal tissue response after radiotherapy for head and neck cancer: fibroblasts, lymphocytes, genetics, DNA repair, and chromosome aberrations

Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration

scientific article published on July 2016

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

scientific article

Inhibitor-immunology-study. Evaluation of inhibitor development in haemophilia B.

scientific article published in November 2011

Interleukin-10 high producer allele and ultrasound-defined periventricular white matter abnormalities in preterm infants: a preliminary study.

scientific article published in June 2006

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

scientific article

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

scientific article published in December 2015

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

scientific article published in November 2015

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

scientific article

Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1

scientific article published on 14 November 2019

Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency

scientific article published on 18 March 2017

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

scientific article

Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis

scientific article published in April 2001

Lymphatic capillary hypoplasia in the skin of fetuses with increased nuchal translucency and Turner's syndrome: comparison with trisomies and controls

scientific article published on 10 May 2010

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

scientific article published on 30 November 2015

MUltiplex Measurement of Cytokine/Receptor Gene Polymorphisms and interaction Between Interleukin-10 (-1082) Genotype and Chorioamnionitis in Extreme Preterm Delivery

article

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

scientific article published in October 2021

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

scientific article published on 13 July 2020

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

scientific article

MicroRNA Profiles of Maternal and Neonatal Endothelial Progenitor Cells in Preeclampsia ⬇️

journal article from 'International Journal of Molecular Sciences' published in 2021

MicroRNA related polymorphisms and breast cancer risk

scientific article

Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR.

scientific article

Missense mutations at ATM gene and cancer risk

article

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

scientific article

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

scientific article

Mitochondrial dysfunction in a novel form of autosomal recessive ataxia

scientific article

Molecular genetics of breast and ovarian cancer: recent advances and clinical implications

scientific article published on December 2012

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

scientific article published on April 2013

Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium

scientific article

Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation in comparison to ataxia telangiectasia heterozygote cells

scientific article published on 01 January 2000

Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer

scientific article

Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer

scientific article published on 21 January 2014

Mutation analysis of the MDM4 gene in German breast cancer patients

scientific article

Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer

scientific article published on 31 July 2011

Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland

scientific article published in February 2001

Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis

scientific article

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer

scientific article published on September 2001

Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.

scientific article

NBS1 variant I171V and breast cancer risk

scientific article published on 30 November 2007

NK Cell-Mediated Eradication of Ovarian Cancer Cells with a Novel Chimeric Antigen Receptor Directed against CD44

scientific article published in 2021

Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk

scientific article

Neuregulin receptor ErbB4 functions as a transcriptional cofactor for the expression of surfactant protein B in the fetal lung

scientific article published on 11 February 2011

Neuregulin-1 high-producer genotype is associated with a decreased risk of admission to the neonatal intensive care unit

scientific article published on 15 May 2010

Neuregulin-1, the fetal endothelium, and brain damage in preterm newborns

scientific article

New mutations in the ATM gene and clinical data of 25 AT patients

scientific article

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

scientific article published on 29 March 2009

Nijmegen Breakage Syndrome mutations and risk of breast cancer

scientific article published in February 2008

No Evidence That Genetic Variation in the Myeloid-Derived Suppressor Cell Pathway Influences Ovarian Cancer Survival

scientific article published on 27 September 2016

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

scientific article published in May 2015

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

scientific article published on 26 February 2016

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths

scientific article published on January 2004

Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations

scientific article

Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

scientific article published on 9 January 2015

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

scientific article published in December 1997

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

scientific article

PALB2 mutations in German and Russian patients with bilateral breast cancer

scientific article published on 17 December 2010

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

scientific article published in December 2016

PCR-based analysis of cystic fibrosis mutations specific for Saudi patients

scientific article published in March 1998

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

scientific article published on 12 October 2017

PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations

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

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Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium

scientific article published on 03 October 2016

Persistent DNA Double-Strand Breaks After Repeated Diagnostic CT Scans in Breast Epithelial Cells and Lymphocytes

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

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

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Polymorphisms in genes of respiratory control and sudden infant death syndrome

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Polymorphisms in inflammation pathway genes and endometrial cancer risk

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Polymorphisms in stromal genes and susceptibility to serous epithelial ovarian cancer: a report from the Ovarian Cancer Association Consortium

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Polymorphisms of the human beta-defensin-1 gene.

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Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).

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

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Preeclampsia-Associated Alteration of DNA Methylation in Fetal Endothelial Progenitor Cells

Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe

scientific article published in June 2014

Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe

scientific article published in March 2015

Prostate cancer risk is not altered by TP53AIP1 germline mutations in a German case-control series

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Protective role of RAD50 on chromatin bridges during abnormal cytokinesis

scientific article published on 16 December 2013

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

scientific article published on 10 April 2018

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

scientific article published on 23 September 2019

RAD50 phosphorylation promotes ATR downstream signaling and DNA restart following replication stress.

scientific article published on 2 April 2014

RAD50 regulates mitotic progression independent of DNA repair functions

scientific article published on 31 December 2019

RAD51B in Familial Breast Cancer

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Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting

scientific article published on March 2002

Rare ATAD5 missense variants in breast and ovarian cancer patients

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Rare germline copy number variants (CNVs) and breast cancer risk

scientific article published on 18 January 2022

Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region

scientific article published on 6 February 2012

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

scientific article published on 16 October 2019

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

Recommendations Related to Genetic Testing for Breast Cancer

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Recreational physical inactivity and mortality in women with invasive epithelial ovarian cancer: evidence from the Ovarian Cancer Association Consortium

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Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

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Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

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Resveratrol modulates DNA double-strand break repair pathways in an ATM/ATR-p53- and -Nbs1-dependent manner

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Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

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Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10

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SFRP1 CpG island methylation locus is associated with renal cell cancer susceptibility and disease recurrence

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Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study

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Severe splice site mutation preceding exon 9 of the CFTR gene

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Severity of disease in cystic fibrosis

scientific article published on 01 October 1995

Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

scientific article published on 30 July 2015

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations

scientific article published on 01 April 2004

Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk

scientific article published on 22 November 2008

TGFB1 gene polymorphism Leu10Pro (c.29T>C), prostate cancer incidence and quality of life in patients treated with brachytherapy

scientific article published on 28 November 2008

TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study

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Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues

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

scientific article published on 20 February 2018

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The association between weight at birth and breast cancer risk revisited using Mendelian randomisation

The association between weight at birth and breast cancer risk revisited using Mendelian randomisation

The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia

scholarly article by Evgeny Imyanitov et al published December 2014 in Breast Cancer Research and Treatment

The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia

scholarly article by Evgeny Imyanitov et al published 20 November 2014 in Breast Cancer Research and Treatment

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

scientific article published on 8 March 2011

The role of genetic breast cancer susceptibility variants as prognostic factors

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The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing

scientific article published in October 2016

The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing

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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

scientific article published on 08 April 2019

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients

scientific article published on 01 January 1995

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility

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Variation in radiation-induced apoptosis in ataxia telangiectasia lymphoblastoid cell lines.

scientific article published on March 2003

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

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rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology

scientific article published on 21 August 2018

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