selected publications
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academic article
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A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Nature Genetics.
50.
2018
Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study.
British Journal of Cancer.
118.
2018
Association of Body Mass Index and Age With Subsequent Breast Cancer Risk in Premenopausal Women.
JAMA Oncology.
4.
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
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
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
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
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
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
Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study.
International Journal of Epidemiology.
45.
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
Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States.
JAMA Oncology.
2.
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 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
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
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
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Journal of Medical Genetics.
53.
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
Association of breast cancer risk loci with breast cancer survival.
International Journal of Cancer.
137.
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 analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
Nature Genetics.
47.
2015
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
Human Molecular Genetics.
24.
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
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.
American Journal of Human Genetics.
97.
2015
Tumor PIK3CA genotype and prognosis: A pooled analysis of 4,241 patients (pts) with early-stage breast cancer (BC)..
Journal of Clinical Oncology.
33.
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
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
Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast.
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
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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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 of the weighted BMI-GSs with BMI and traditional breast cancer risk factors..
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
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
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
Evidence of Gene–Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors.
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
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Associations between selected SNPs and breast cancer risk in Caucasians, overall and by ER status (estimated per-allele odds ratios and 95% confidence intervals)1..
public-library-of-science.
2013
List of participating studies and number of Caucasian subjects included in at least one GxE analysis..
public-library-of-science.
2013
Main effects for the epidemiologic variables included in the analyses, derived from population-based studies only1..
public-library-of-science.
2013
Per-allele odds ratios and 95% confidence intervals for SNPs by environmental risk factors of breast cancer showing interaction P-value<10−3, overall and by estrogen receptor status..
public-library-of-science.
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
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
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preprint