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Table 7. Characteristics of Common Models for Estimating the Likelihood of a CDKN2A Mutation

 MelaPRO [163] MelPREDICT [162] 
Features of Model Incorporates three different penetrance modelsUses logistic regression
Can input information for large familiesAccounts for a number of primary melanomas in family and age of onset
Includes information for unaffected individuals on risk of developing melanoma
Limitations The model has not been validated on unaffected probands.Cannot incorporate complex pedigree structure information into the model
Does not take into account domain-specific penetrances or geographical differences in penetrance

References

  1. Niendorf KB, Goggins W, Yang G, et al.: MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability. J Med Genet 43 (6): 501-6, 2006.  [PUBMED Abstract]

  2. Wang W, Niendorf KB, Patel D, et al.: Estimating CDKN2A carrier probability and personalizing cancer risk assessments in hereditary melanoma using MelaPRO. Cancer Res 70 (2): 552-9, 2010.  [PUBMED Abstract]