Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include BRCA gene mutations in cancer, Genetic Associations and Epidemiology, Genetic factors in colorectal cancer, and Genomic variations and chromosomal abnormalities.
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
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations
Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Targeted Resequencing of the Coding Sequence of 38 Genes Near Breast Cancer GWAS Loci in a Large Case–Control Study
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis
Association analysis identifies 65 new breast cancer risk loci
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Rare, protein-truncating variants in <i>ATM</i>, <i>CHEK2</i> and <i>PALB2</i>, but not <i>XRCC2</i>, are associated with increased breast cancer risks
Inherited mutations in <i>BRCA1</i> and <i>BRCA2</i> in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia
No evidence that protein truncating variants in <i>BRIP1</i> are associated with breast cancer risk: implications for gene panel testing
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
<i>PPM1D</i>Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus
A risk prediction algorithm for ovarian cancer incorporating <i>BRCA1, BRCA2</i>, common alleles and other familial effects
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers
A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk
Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression
Genome-wide association analysis identifies three new breast cancer susceptibility loci