Table 1. Genotype and phenotype features of four individuals from two melanoma pedigrees.
Pedigree A | ||||||
Individual | MM* | CDKN2A | MC1R | Skin phototype | Eye color | Hair color |
A1 | 5 | p.G101W | p.R160W, p.R151C | II | Green | Red |
A2 | 0 | Wild-type | p.R160W, p.R151C | II | Green | Red |
Pedigree B | ||||||
Individual | MM* | CDKN2A | MC1R | Skin phototype | Eye color | Hair color |
B1 | 0 | p.G101W | Wild-type | II | Blue | Black |
B2 | 0 | Wild-type | Wild-type | II | Blue | Brown |
Two siblings from each pedigree (A and B) were included. Each individual was considered as a “genomic condition” in the study. A total of two and three melanoma cases have been found in pedigree A and B, respectively. Abbreviations: CDKN2A: cyclin-dependent kinase inhibitor 2A; MC1R: melanocortin 1 receptor; MM: melanomas.
Number of melanomas in each individual.