Area of research
Genetics · Molecular Biology
Research interest
Research interests include Breast cancer, Medicine, Oncology, Genetics, Biology, and Ovarian cancer.
Real-World Outcomes of Molecular Tumor Board Treatment Recommendations
Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk
Is tumour sequencing effective for the identification of germline <i>BRCA1/2</i> pathogenic variant carriers?
Analysis of variants in untranslated and promoter regions and breast cancer risk using whole genome sequencing data
Molecular Tumor Board as a Clinical Tool for Converting Molecular Data Into Real-World Patient Care
A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
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
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Rare Copy Number Variants (CNVs) and Breast Cancer Risk
Rare copy number variants (CNVs) and breast cancer risk
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
Characterization of the Cancer Spectrum in Men With Germline<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variants
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families
The spectrum of <i>BRCA1</i> and <i>BRCA2</i> pathogenic sequence variants in Middle Eastern, North African, and South European countries
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
Two truncating variants in FANCC and breast cancer risk
Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers
<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>BRCA2</i> c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Body mass index and breast cancer survival: a Mendelian randomization analysis
Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study
No evidence that protein truncating variants in <i>BRIP1</i> are associated with breast cancer risk: implications for gene panel testing
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
Fine‐scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer