Area of research
Genetics · Molecular Biology
Research interest
Research interests include BRCA gene mutations in cancer, DNA Repair Mechanisms, Ovarian cancer diagnosis and treatment, and CRISPR and Genetic Engineering.
Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Genetic counselling legislation and practice in cancer in EU Member States.
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
A Novel Mutation of <i>MSH2</i> Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies.
Cancer Risks Associated With <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants
Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Is rare cancer care organized at national health system level? Multiple case study in six EU countries.
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer
Breast and Prostate Cancer Risks for Male<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variant Carriers Using Polygenic Risk Scores
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
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.
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
Cancer Risks Associated With Germline <i>PALB2</i> Pathogenic Variants: An International Study of 524 Families.
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i>
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i>
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Characterization of the Cancer Spectrum in Men With Germline<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variants
Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
The incidence of occult ovarian neoplasia and cancer in BRCA1/2 mutation carriers after the bilateral prophylactic salpingo-oophorectomy (PBSO): A single-center prospective study.
Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families