Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.

Journal of the American Academy of Dermatology(2019)

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摘要
The MELPREDICT model functioned well in a global dataset 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 counselling these patients towards genetic testing or cancer risk counselling.
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关键词
CDKN2A,familial melanoma,GenoMEL,GenoMELPREDICT,mutation prediction
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