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- 2023
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Mark
BRCA1 frameshift variants leading to extended incorrect protein C termini
(
- Contribution to journal › Article
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Mark
A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
(
- Contribution to journal › Article
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Mark
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
(
- Contribution to journal › Article
- 2021
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Mark
Breast cancer risk factors and survival by tumor subtype : pooled analyses from the Breast Cancer Association Consortium
2021) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 30(4). p.623-642(
- Contribution to journal › Article
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Mark
Combined associations of a polygenic risk score and classical risk factors with breast cancer risk
(
- Contribution to journal › Article
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Mark
Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
(
- Contribution to journal › Article
- 2019
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Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
(
- Contribution to journal › Article
- 2018
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Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
(
- Contribution to journal › Article
- 2017
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Mark
Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
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
(
- Contribution to journal › Article
- 2016
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Mark
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
(
- Contribution to journal › Article
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Mark
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
(
- Contribution to journal › Article
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Mark
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
(
- Contribution to journal › Article
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Mark
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
2016) In Nature Genetics(
- Contribution to journal › Article
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Mark
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
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- Contribution to journal › Article
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Mark
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
(
- Contribution to journal › Article
- 2015
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Mark
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
(
- Contribution to journal › Article
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Mark
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers.
(
- Contribution to journal › Article
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Mark
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
(
- Contribution to journal › Article
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Mark
Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
(
- Contribution to journal › Article
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Mark
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
(
- Contribution to journal › Article
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Mark
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
(
- Contribution to journal › Article
- 2014
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Mark
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
(
- Contribution to journal › Article
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Mark
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.
(
- Contribution to journal › Article
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Mark
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study
(
- Contribution to journal › Article
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Mark
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
(
- Contribution to journal › Article
- 2013
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Mark
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration
(
- Contribution to journal › Letter
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Mark
Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1
(
- Contribution to journal › Article
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Mark
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
(
- Contribution to journal › Article
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Mark
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
(
- Contribution to journal › Article
- 2012
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Mark
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
(
- Contribution to journal › Article
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Mark
Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
2012) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 21(1). p.134-147(
- Contribution to journal › Article
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Mark
Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
(
- Contribution to journal › Article
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Mark
A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers
(
- Contribution to journal › Article
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Mark
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
2012) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 21(4). p.645-657(
- Contribution to journal › Article
- 2011
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Mark
Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer
(
- Contribution to journal › Article
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Mark
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
(
- Contribution to journal › Article
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Mark
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
(
- Contribution to journal › Article
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Mark
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
(
- Contribution to journal › Article
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Mark
Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
(
- Contribution to journal › Article
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Mark
Exploring the link between MORF4L1 and risk of breast cancer
(
- Contribution to journal › Article
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Mark
Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers.
(
- Contribution to journal › Article
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Mark
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
(
- Contribution to journal › Article
- 2010
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Mark
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction
(
- Contribution to journal › Article
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Mark
Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
2010) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 19. p.2859-2868(
- Contribution to journal › Article
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Mark
Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus
(
- Contribution to journal › Article
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Mark
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
(
- Contribution to journal › Article
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Mark
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
(
- Contribution to journal › Article
- 2009
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Mark
No evidence that GATA3 rs570613 SNP modifies breast cancer risk
(
- Contribution to journal › Article
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Mark
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2007
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Mark
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: A consortium of investigators of modifiers of BRCA1/2 study
(
- Contribution to journal › Article