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
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Human Mutation.
39.
2018
The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Human Mutation.
39.
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
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
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
Journal of Clinical Oncology.
35.
2017
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
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-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
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
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
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Journal of Medical Genetics.
53.
2016
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Gynecologic Oncology.
141.
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
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
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Cancer Epidemiology Biomarkers & Prevention.
24.
2015
Common germline polymorphisms associated with breast cancer-specific survival.
Breast Cancer Research.
17.
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
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
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
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
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
Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing.
Clinical Chemistry.
60.
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
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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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
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
Pairwise correlations (r2) between selected SNPs..
public-library-of-science.
2016
RAD51B in Familial Breast Cancer.
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
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers.
public-library-of-science.
2015
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk.
public-library-of-science.
2015
Potential GxG associated with breast cancer risk in BRCA1/2 mutation carriers..
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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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
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
Breast Cancer Research.
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 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
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
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preprint