Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include BRCA gene mutations in cancer, Genetic factors in colorectal cancer, Genomics and Rare Diseases, and CRISPR and Genetic Engineering.
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Analysis of <i>BRCA1</i> , <i>BRCA2</i> and <i>PALB2</i> related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk
Update of penetrance estimates in Birt-Hogg-Dubé syndrome
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
Development and validation of an AI-enabled digital breast cancer assay to predict early-stage breast cancer recurrence within 6 years
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
Breast and Prostate Cancer Risks for Male<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variant Carriers Using Polygenic Risk Scores
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i>
Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk
Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families
Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification
<i>BRCA1</i> and <i>BRCA2</i> 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding
Genetic Testing and Clinical Management Practices for Variants in Non-<i>BRCA1</i>/<i>2</i> Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group
The <i>BRCA1</i> c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
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
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers