Area of research
Genetics · Molecular Biology
Research interest
Research interests include BRCA gene mutations in cancer, Genetic Associations and Epidemiology, Breast Cancer Treatment Studies, and Genomics and Chromatin Dynamics.
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
The impact of coding germline variants on contralateral breast cancer risk and survival
Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival
Association of the <scp> <i>CHEK2</i> </scp> c. <scp>1100delC</scp> variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study
PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients
Rare germline copy number variants (CNVs) and breast cancer risk
PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~200,000 patients
Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium
Mendelian randomisation study of smoking exposure in relation to breast cancer risk
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
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
Rare copy number variants (CNVs) and breast cancer risk
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status
Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts
Common Susceptibility Loci for Male Breast Cancer
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Genome-wide association study of germline variants and breast cancer-specific mortality
Prediction and clinical utility of a contralateral breast cancer risk model
Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer