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- 2019
- Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT
- 2018
- The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
- Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
- 2017
- Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families
- Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers
- 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
- 2016
- Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families.
- BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
- Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
- No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer