selected publications
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academic article
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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
Body mass index and breast cancer survival: a Mendelian randomization analysis.
International Journal of Epidemiology.
46.
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
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
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Nature Genetics.
48.
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
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
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
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
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Journal of Medical Genetics.
53.
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
Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer.
JAMA.
313.
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 six new susceptibility loci for invasive epithelial ovarian cancer.
Nature Genetics.
47.
2015
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Research.
16.
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
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
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 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
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
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
Significant associations detected at p < 0.05 between breast cancer risk and BMI-related SNPs..
public-library-of-science.
2016
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
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.
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
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian 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