ArticleJournal of the American Academy of Dermatology2019
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
Article in Journal of the American Academy of Dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Identifying high-risk melanoma patients: The importance of acquiring a detailed family history.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Article
- Cutaneous melanoma.Nature reviews. Disease primers · 2025Review
- High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.Journal of the European Academy of Dermatology and Venereology : JEADV · 2023Article
- Heritable defects in telomere and mitotic function selectively predispose to sarcomas.Science (New York, N.Y.) · 2023Article
- New Insights into Melanoma Tumor Syndromes.JID innovations : skin science from molecules to population health · 2022Review
- Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.Bosnian journal of basic medical sciences · 2022Review
- Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.ESMO open · 2022Article
- Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma.PloS one · 2022Article
- FRAMe: Familial Risk Assessment of Melanoma-a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma.Familial cancer · 2021Article
- Review
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Authors and funding
43 authors at 20 institutions in 13 countries.
Funding
Abstract
backgroundAlthough rare in the general population, highly penetrant germline mutations in CDKN2A are responsible for 5%-40% of melanoma cases reported in melanoma-prone families. We sought to determine whether MELPREDICT was generalizable to a global series of families with melanoma and whether performance improvements can be achieved.
methodsIn total, 2116 familial melanoma cases were ascertained by the international GenoMEL Consortium. We recapitulated the MELPREDICT model within our data (GenoMELPREDICT) to assess performance improvements by adding phenotypic risk factors and history of pancreatic cancer. We report areas under the curve (AUC) with 95% confidence intervals (CIs) along with net reclassification indices (NRIs) as performance metrics.
resultsMELPREDICT performed well (AUC 0.752, 95% CI 0.730-0.775), and GenoMELPREDICT performance was similar (AUC 0.748, 95% CI 0.726-0.771). Adding a reported history of pancreatic cancer yielded discriminatory improvement (P < .0001) in GenoMELPREDICT (AUC 0.772, 95% CI 0.750-0.793, NRI 0.40). Including phenotypic risk factors did not improve performance.
conclusionThe MELPREDICT model functioned well in a global data set of familial melanoma cases. Adding pancreatic cancer history improved model prediction. GenoMELPREDICT is a simple tool for predicting CDKN2A mutational status among melanoma patients from melanoma-prone families and can aid in directing these patients to receive genetic testing or cancer risk counseling.
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