Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include BRCA gene mutations in cancer, Genetic factors in colorectal cancer, Breast Cancer Treatment Studies, and Nutrition, Genetics, and Disease.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in<i>BRCA1</i>and<i>BRCA2</i>
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
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
Breast and Prostate Cancer Risks for Male<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variant Carriers Using Polygenic Risk Scores
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Whole-genome sequencing of patients with rare diseases in a national health system
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers
Bayesian Inference Associates Rare <i>KDR</i> Variants With Specific Phenotypes in Pulmonary Arterial Hypertension
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers
Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
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>
Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide
Management and 5-year outcomes in 9938 women with screen-detected ductal carcinoma in situ: the UK Sloane Project
Height and Body Mass Index as Modifiers of Breast Cancer Risk in <i>BRCA1</i>/<i>2</i> Mutation Carriers: A Mendelian Randomization Study
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study
Risks of Breast, Ovarian, and Contralateral Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer