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- Barrett, Jennifer H1
- Bishop, D Timothy1
- Brossard, Myriam1
- Brown, Kevin M1
- Bui, Minh1
- Cust, Anne E1
- Demenais, Florence1
- Drummond, Martin1
- Goldstein, Alisa M1
- Green, Adèle C1
- Hacker, Elke1
- Hayward, Nicholas K1
- Hoggart, Clive1
- Hopper, John L1
- Iles, Mark M1
- Kanetsky, Peter A1
- Kvaskoff, Marina1
- Landi, Maria Teresa1
- Law, Matthew H1
- MacGregor, Stuart1
- Mann, Graham J1
- Mortimore, Rohan1
- Newton-Bishop, Julia A1
- Olsen, Catherine M1
- Pandeya, Nirmala1
Melanoma
2 Results
- Original Article Melanocytes/MelanomaOpen Access
Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies
Journal of Investigative DermatologyVol. 138Issue 12p2617–2624Published online: June 8, 2018- Anne E. Cust
- Martin Drummond
- Peter A. Kanetsky
- Australian Melanoma Family Study Investigators
- Leeds Case-Control Study Investigators
- Alisa M. Goldstein
- and others
Cited in Scopus: 34It is unclear to what degree genomic and traditional (phenotypic and environmental) risk factors overlap in their prediction of melanoma risk. We evaluated the incremental contribution of common genomic variants (in pigmentation, nevus, and other pathways) and their overlap with traditional risk factors, using data from two population-based case-control studies from Australia (n = 1,035) and the United Kingdom (n = 1,460) that used the same questionnaires. Polygenic risk scores were derived from 21 gene regions associated with melanoma and odds ratios from published meta-analyses. - Original Article Melanocytes/MelanomaOpen Archive
Histologic and Phenotypic Factors and MC1R Status Associated with BRAFV600E, BRAFV600K, and NRAS Mutations in a Community-Based Sample of 414 Cutaneous Melanomas
Journal of Investigative DermatologyVol. 136Issue 4p829–837Published online: January 22, 2016- Elke Hacker
- Catherine M. Olsen
- Marina Kvaskoff
- Nirmala Pandeya
- Abrey Yeo
- Adèle C. Green
- and others
Cited in Scopus: 21Cutaneous melanomas arise through causal pathways involving interplay between exposure to UV radiation and host factors, resulting in characteristic patterns of driver mutations in BRAF, NRAS, and other genes. To gain clearer insights into the factors contributing to somatic mutation genotypes in melanoma, we collected clinical and epidemiologic data, performed skin examinations, and collected saliva and tumor samples from a community-based series of 414 patients aged 18 to 79, newly diagnosed with cutaneous melanoma.