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
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
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
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 ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nature Genetics.
49.
2017
Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.
Breast Cancer Research.
19.
2017
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression..
Human Molecular Genetics.
25.
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
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 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
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
Common germline polymorphisms associated with breast cancer-specific survival.
Breast Cancer Research.
17.
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
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
Nature Genetics.
47.
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
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.
Nature Communications.
5.
2014
Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast.
PLOS Genetics.
10.
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 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
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk.
public-library-of-science.
2015
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hide from search
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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
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
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