Area of research
Genetics · Molecular Biology
Research interest
Research interests include BRCA gene mutations in cancer, Genetics, Bioinformatics, and Biomedical Research, Nutrition, Genetics, and Disease, and Genetic Associations and Epidemiology.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
Breast and Prostate Cancer Risks for Male<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variant Carriers Using Polygenic Risk Scores
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness
Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study
Height and Body Mass Index as Modifiers of Breast Cancer Risk in <i>BRCA1</i>/<i>2</i> Mutation Carriers: A Mendelian Randomization Study
Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Psychosocial impact of undergoing prostate cancer screening for men with <i> <scp>BRCA</scp> 1 or <scp>BRCA</scp> 2 </i> mutations
Risks of Breast, Ovarian, and Contralateral Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
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
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer
Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers
Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers