Frequencies of MC1R variants in families with CDK4 germline mutations
| CDK4 negative family members and spouses* | CDK4 positive family members† | Number of primary melanomas‡ | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Unaffected | Affected | SPM | MPM | ||||||
| MC1R variant distribution | N=115 (%) | N=23 (%) | p Value§ | N=60 (%) | p Value§ | p Value¶ | N=30 (%) | N=30 (%) | p Value** |
| Number of MC1R variants | |||||||||
| 0 (consensus sequence) | 23 (20.0) | 10 (43.5) | 0.071 | 15 (25.0) | NS | NS | 11 (36.7) | 4 (13.3) | 0.070 |
| 1 variant | 71 (61.7) | 10 (43.5) | 32 (53.3) | 15 (50.0) | 17 (56.7) | ||||
| 2 variants | 21 (18.3) | 3 (13.0) | 13 (21.7) | 4 (13.3) | 9 (30.0) | ||||
| Type of MC1R variants | |||||||||
| 0 (consensus sequence) | 23 (20.0) | 10 (43.5) | 0.012 | 15 (25.0) | NS | 0.042 | 11 (36.7) | 4 (13.3) | 0.010 |
| RHC only | 48 (41.7) | 3 (13.0) | 23 (38.3) | 7 (23.3) | 16 (53.3) | ||||
| NRHC only | 31 (27.0) | 9 (39.1) | 14 (23.3) | 10 (33.3) | 4 (13.3) | ||||
| Both RHC and NRHC | 13 (11.3) | 1 (4.4) | 8 (13.3) | 2 (6.7) | 6 (20.0) | ||||
*MC1R data were available for 76 of 79 CDK4 negative family members and for 39 of 41 spouses. In these groups, the distributions of number and type of MC1R variants were very similar, and the two groups were combined into a single control group for the statistical analyses.
†Melanoma status and MC1R data were available for 83 of 89 CDK4 positive family members.
‡The number of primary melanomas and MC1R data were available for 60 of the 103 melanoma subjects.
§The control group was compared with unaffected and affected CDK4 positive family members, respectively.
¶Unaffected mutation carriers were compared with affected mutation carriers.
**Subjects with SPM and MPM were compared with each other with regard to MC1R variant distribution.
NS=non-significant p value.
MPM, multiple primary melanomas; NRHC, non-red hair colour; RHC, red hair colour; SPM, single primary melanoma.