selected publications
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academic article
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A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk.
Cancer Research.
78.
2018
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Nature Genetics.
50.
2018
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
Nature Genetics.
50.
2018
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.
Nature Communications.
9.
2018
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
Nature Communications.
9.
2018
Germline variation at 8q24 and prostate cancer risk in men of European ancestry.
Nature Communications.
9.
2018
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
Nature Communications.
9.
2018
Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium..
International Journal of Epidemiology.
47.
2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Human Mutation.
39.
2018
Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts.
The BMJ.
360.
2018
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Nature Genetics.
50.
2018
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Nature Genetics.
50.
2018
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Nature Genetics.
50.
2018
The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Human Mutation.
39.
2018
Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility.
PLoS ONE.
13.
2018
Association analysis identifies 65 new breast cancer risk loci.
Nature.
551.
2017
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.
Breast Cancer Research and Treatment.
161.
2017
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Cancer Research.
77.
2017
Body mass index and breast cancer survival: a Mendelian randomization analysis.
International Journal of Epidemiology.
46.
2017
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Genetics in Medicine.
19.
2017
Gene–environment interactions involving functional variants: Results from the Breast Cancer Association Consortium.
International Journal of Cancer.
141.
2017
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.
Nature Communications.
8.
2017
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
Nature Genetics.
49.
2017
Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium.
British Journal of Cancer.
117.
2017
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
Nature Genetics.
49.
2017
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nature Genetics.
49.
2017
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
Oncotarget.
8.
2017
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
Journal of Clinical Oncology.
35.
2017
Rare and low-frequency coding variants alter human adult height.
Nature.
542.
2017
Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.
Breast Cancer Research.
19.
2017
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
JAMA.
317.
2017
The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.
Cancer Epidemiology Biomarkers & Prevention.
26.
2017
A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease.
Science Translational Medicine.
8.
2016
Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
Journal of Clinical Oncology.
34.
2016
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression..
Human Molecular Genetics.
25.
2016
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
Oncotarget.
5.
2016
Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry.
Cancer Causes & Control.
27.
2016
Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation.
Nature Communications.
7.
2016
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
Journal of the National Cancer Institute.
108.
2016
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Nature Genetics.
48.
2016
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Human Molecular Genetics.
25.
2016
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.
American Journal of Human Genetics.
99.
2016
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
Scientific Reports.
6.
2016
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
PLoS ONE.
11.
2016
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
PLoS ONE.
11.
2016
Fine‐scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer.
International Journal of Cancer.
139.
2016
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus.
Nature Communications.
7.
2016
Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.
British Journal of Cancer.
114.
2016
Genetic predisposition to ductal carcinoma in situ of the breast.
Breast Cancer Research.
18.
2016
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.
Human Genetics.
135.
2016
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
PLoS Medicine.
13.
2016
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.
Cancer Discovery.
6.
2016
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Nature Communications.
7.
2016
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Breast Cancer Research.
18.
2016
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Breast Cancer Research.
18.
2016
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Research.
18.
2016
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Gynecologic Oncology.
141.
2016
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Journal of Medical Genetics.
53.
2016
Patient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association Consortium.
Breast Cancer Research.
18.
2016
RAD51B in Familial Breast Cancer.
PLoS ONE.
11.
2016
rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk.
Scientific Reports.
6.
2016
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Breast Cancer Research.
17.
2015
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers.
PLoS ONE.
10.
2015
Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer.
JAMA.
313.
2015
CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer.
Endocrine Related Cancer.
23.
2015
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Cancer Epidemiology Biomarkers & Prevention.
24.
2015
Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk.
PLoS ONE.
10.
2015
Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).
Journal of Genetics and Genome Research.
2.
2015
Common germline polymorphisms associated with breast cancer-specific survival.
Breast Cancer Research.
17.
2015
Epithelial‐Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk.
Genetic Epidemiology.
39.
2015
Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk.
Cancer Epidemiology Biomarkers & Prevention.
24.
2015
Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1.
American Journal of Human Genetics.
96.
2015
Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.
Human Molecular Genetics.
24.
2015
Genome-Wide Association Study of Prostate Cancer–Specific Survival.
Cancer Epidemiology Biomarkers & Prevention.
24.
2015
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
Nature Genetics.
47.
2015
Germline Mutation in BRCA1 or BRCA2 and Ten-Year Survival for Women Diagnosed with Epithelial Ovarian Cancer.
Clinical Cancer Research.
21.
2015
Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization.
Journal of the National Cancer Institute.
107.
2015
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
Human Molecular Genetics.
24.
2015
Identification of Novel Genetic Markers of Breast Cancer Survival.
Journal of the National Cancer Institute.
107.
2015
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Nature Genetics.
47.
2015
Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer.
Carcinogenesis.
36.
2015
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Nature Genetics.
47.
2015
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.
American Journal of Human Genetics.
97.
2015
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans.
Human Molecular Genetics.
24.
2015
Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk.
Cancer Epidemiology Biomarkers & Prevention.
24.
2015
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.
American Journal of Human Genetics.
97.
2015
Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants.
Journal of the National Cancer Institute.
107.
2015
Rare coding variants and X-linked loci associated with age at menarche.
Nature Communications.
6.
2015
Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci.
Cancer Epidemiology Biomarkers & Prevention.
24.
2015
SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival.
Oncotarget.
6.
2015
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.
Human Molecular Genetics.
23.
2014
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
Nature Genetics.
46.
2014
Alcohol Consumption and Survival after a Breast Cancer Diagnosis: A Literature-Based Meta-analysis and Collaborative Analysis of Data for 29,239 Cases.
Cancer Epidemiology Biomarkers & Prevention.
23.
2014
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Research.
16.
2014
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.
Human Molecular Genetics.
23.
2014
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
PLOS Genetics.
10.
2014
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.
Nature Communications.
5.
2014
FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.
British Journal of Cancer.
110.
2014
Fine-Mapping the HOXB Region Detects Common Variants Tagging a Rare Coding Allele: Evidence for Synthetic Association in Prostate Cancer.
PLOS Genetics.
10.
2014
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
Breast Cancer Research.
16.
2014
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.
Human Molecular Genetics.
23.
2014
Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.
Human Genetics.
133.
2014
Identification of New Genetic Susceptibility Loci for Breast Cancer Through Consideration of Gene‐Environment Interactions.
Genetic Epidemiology.
38.
2014
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Nature.
514.
2014
Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Breast Cancer Research.
16.
2014
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dataset
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MOESM1 of Prediction and clinical utility of a contralateral breast cancer risk model.
springer-nature.
2019
MOESM2 of Prediction and clinical utility of a contralateral breast cancer risk model.
springer-nature.
2019
Association of variants in small GTPase genes with epithelial ovarian cancer risk (p-value<10−4) and functional annotation..
public-library-of-science.
2018
Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility.
public-library-of-science.
2018
Associations between genetically predicted BMI and breast cancer risk..
public-library-of-science.
2016
Associations between selected SNPs from 9p22.2 and ovarian cancer in BRCA1, BRCA2 and combined analysis of BRCA1/2 mutation carriers..
public-library-of-science.
2016
Associations of the weighted BMI-GSs with BMI and traditional breast cancer risk factors..
public-library-of-science.
2016
Conditional associations for BRCA1 and BRCA2 top SNPs..
public-library-of-science.
2016
Estimated haplotype frequencies and haplotype-specific ORs among the BCAC dataset..
public-library-of-science.
2016
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
public-library-of-science.
2016
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
public-library-of-science.
2016
Frequencies and ORs for the SNPs rs2588809, rs1314913, and rs999737 for all breast cancer cases, familial cases and ER-positive and -negative cases in the BCAC dataset..
public-library-of-science.
2016
Frequencies and ORs for the c.541C>T mutation among the different patient subgroups in the Helsinki, Tampere, Oulu, and Belarus series..
public-library-of-science.
2016
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
public-library-of-science.
2016
Pairwise correlations (r2) between selected SNPs..
public-library-of-science.
2016
RAD51B in Familial Breast Cancer.
public-library-of-science.
2016
Significant associations detected at p < 0.05 between breast cancer risk and BMI-related SNPs..
public-library-of-science.
2016
Two independent association signals at the 1p11.2 locus: Association results for breast cancer risk among European women in BCAC, by tumor characteristic..
public-library-of-science.
2016
Two independent association signals at the 1p11.2 locus: Association results for breast cancer risk among women in BCAC, by ancestry..
public-library-of-science.
2016
Variants identified in the screening of the RAD51B gene (RefSeq NM_133509.3)..
public-library-of-science.
2016
Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk.
public-library-of-science.
2015
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk.
public-library-of-science.
2015
The most significant SNPs in the transport pathway genes and risk of EOC by histology, invasiveness, and race/ethnicity1..
public-library-of-science.
2015
Top SNPs associated with SER EOC across racial groups..
public-library-of-science.
2015
Associations with breast and ovarian cancer risk for SNPs observed at p-trend<0.05 in stage II of the experiment..
public-library-of-science.
2014
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
public-library-of-science.
2014
Fine-Mapping the HOXB Region Detects Common Variants Tagging a Rare Coding Allele: Evidence for Synthetic Association in Prostate Cancer.
public-library-of-science.
2014
Haplotype analysis for rs117576373 and rs138213197 in the subset of 5500 PrCa cases and 4923 controls from the UK and Sweden for which both had been directly genotyped..
public-library-of-science.
2014
Haplotype analysis for rs145922598 and rs138213197 in the subset of 5500 PrCa cases and 4923 controls from the UK and Sweden genotyped for rs138213197..
public-library-of-science.
2014
PrCa association information for SNPs significant at P<10−6 in the iCOGS imputed data..
public-library-of-science.
2014
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hide from search
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Analysis of associations with breast and ovarian cancer risk simultaneously (competing risks analysis) for SNPs found to be associated with breast or ovarian cancer..
public-library-of-science.
2013
Associations with SNPs at the novel 17q21 region with ovarian cancer risk for BRCA1 and BRCA2 mutation carriers..
public-library-of-science.
2013
Associations with breast and ovarian cancer risk for SNPs found to be associated with risk at all 3 stages of the experiment..
public-library-of-science.
2013
Associations with breast or ovarian cancer risk for loci previously reported to be associated with cancer risk for BRCA1 mutation carriers..
public-library-of-science.
2013
Breast cancer hazard ratios (HR) and 95% confidence intervals (CI) of novel breast cancer loci with P-values of association <10−5 among BRCA2 mutation carriers..
public-library-of-science.
2013
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.
public-library-of-science.
2013
Per allele hazard ratios (HR) and 95% confidence intervals (CI) of previously published breast cancer loci among BRCA2 mutation carriers from previous reports and from the iCOGS array, ordered by statistical significance of the region..
public-library-of-science.
2013
A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.
Human Molecular Genetics.
2013
A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.
Human Molecular Genetics.
2013
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
Breast Cancer Research.
2013
Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer.
Nature Communications.
2013
Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1.
American Journal of Human Genetics.
2013
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.
PLOS Genetics.
2013
Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.
Nature Communications.
2013
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk.
PLOS Genetics.
2013
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Nature Genetics.
2013
Tamoxifen and Risk of Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
Journal of Clinical Oncology.
2013
Association of haplotypes composed of rs2046210 and rs12662670 with breast cancer..
public-library-of-science.
2012
Association of rs2046210 and rs12662670 with breast cancer..
public-library-of-science.
2012
Association of rs2046210 and rs12662670 with risk of ER−*/ER+** breast cancer..
public-library-of-science.
2012
Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC).
public-library-of-science.
2012
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.
public-library-of-science.
2010
Description of affected and unaffected carriers selected for BRCA2 GWAS Stage 1 and 2..
public-library-of-science.
2010
Estimates of breast cancer association for loci (two confirmatory loci at FGFR2 and TOX3, and two novel loci with stage 1 and 2 combined of p<10−4) among BRCA2 mutation carriers in a two-staged genome-wide association study..
public-library-of-science.
2010
AML experiment-wise test results for genotyping groups..
public-library-of-science.
2009
All 22 SNPs with significant associations identified using the trend test for association..
public-library-of-science.
2009
Association between Common Germline Genetic Variation in 94 Candidate Genes or Regions and Risks of Invasive Epithelial Ovarian Cancer.
public-library-of-science.
2009
Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics.
public-library-of-science.
2008
Multivariate Cox proportional hazards analysis of genetic polymorphisms in relation to overall survival following breast cancer diagnosis, by ER status*..
public-library-of-science.
2008
Odds ratios for breast cancer risk by lymph node involvement*..
public-library-of-science.
2008
Odds ratios for breast cancer risk by tumor grade*..
public-library-of-science.
2008
Per-allele odds ratios for breast cancer risk by estrogen receptor status..
public-library-of-science.
2008
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preprint