selected publications
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academic article
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The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Journal of Medical Genetics.
55.
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 ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nature Genetics.
49.
2017
Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
Journal of Clinical Oncology.
34.
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
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Nature Genetics.
48.
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
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
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
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
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
Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants.
Journal of the National Cancer Institute.
107.
2015
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Nature Genetics.
46.
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
Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast.
PLOS Genetics.
10.
2014
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dataset
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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
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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
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
Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics.
public-library-of-science.
2008
Multivariate Cox proportional hazards analysis of genetic polymorphisms in relation to overall survival following breast cancer diagnosis, by ER status*..
public-library-of-science.
2008
Odds ratios for breast cancer risk by lymph node involvement*..
public-library-of-science.
2008
Odds ratios for breast cancer risk by tumor grade*..
public-library-of-science.
2008
Per-allele odds ratios for breast cancer risk by estrogen receptor status..
public-library-of-science.
2008