Table 2.

Frequencies of MC1R variants in members of 20 melanoma-prone pedigrees and controls

VariantsAll family members (n = 159)Controls (n = 172)Carriers and noncarriers of CDKN2A mutations
Carriers of CDKN2A mutations
Affected family members* (n = 45)Unaffected family members* (n = 111)Affected family members* (n = 42)Unaffected family members* (n = 37)
V60L16.014.220.014.420.214.9
S83P0.60.61.10.50.00.0
S83L0.60.01.10.50.01.4
D84E0.90.62.20.52.40.0
V92M11.38.414.410.415.58.1
A111V0.90.00.01.40.00.0
R151C11.04.911.111.311.98.1
I155T1.30.32.20.92.41.4
R160W6.63.57.86.37.19.5
R163Q4.44.46.73.67.12.7
F196L0.60.30.00.90.01.4
I264I0.60.60.00.90.00.0
D294H5.01.28.93.69.52.7
T314T16.79.916.716.717.914.9
  • * There was no significant difference for each MC1R variant frequency between affected and unaffected members of the 20 melanoma-prone families regardless of CDKN2A genotype.

  • Frequencies of R151C, D294H, and T314T were significantly different in 172 controls and in all members of the 20 families (P < 0.044). No difference was found for all other comparisons.