Table 7. Characteristics of Common Models for Estimating the Likelihood of a CDKN2A Mutation
| MelaPRO [132] | MelPREDICT [131] | |
| Features of Model | Incorporates three different penetrance models | Uses logistic regression |
| Can input information for large families | Accounts 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
- 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]
- 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]
