Table 3.
Characteristics of probands and relatives who are known carriers of a CDKN2A mutation or with a predicted 25% or higher probability1 of being a carrier, by region of the proband and sex
| Geographic region and sex |
Number of families |
Number of relatives with ≥ 25% probability of being a carrier1 |
Mean age (range) at diagnosis of melanoma of proband |
Mean last known age (range) of relatives without melanoma2 |
Number (%) of relatives with melanoma2 |
Mean age (range) at diagnosis of melanoma2 in relatives |
|---|---|---|---|---|---|---|
| United Kingdom | ||||||
| All | 22 | 276 | 47 (24-72) | 50 (0-97) | 13 (5) | 47 (17-75) |
| Females | - | 119 | 46 (24-72) | 49 (0-97) | 6 (5) | 43 (17-66) |
| Males | - | 157 | 50 (41-67) | 50 (6-88) | 7 (4) | 51 (39-75) |
| Australia | ||||||
| All | 13 | 143 | 34 (27-40) | 57 (18-91) | 20 (14) | 47 (18-87) |
| Females | - | 69 | 31 (27-37) | 62 (26-91) | 13 (19) | 46 (18-84) |
| Males | - | 74 | 36 (31-40) | 53 (18-86) | 7 (9) | 50 (22-87) |
| Brisbane | 4 | 41 | 31 (27-36) | 61 (26-91) | 3 (7) | 48 (22-67) |
| Sydney | 5 | 45 | 35 (29-40) | 58 (18-85) | 9 (20) | 49 (18-87) |
| Melbourne | 4 | 57 | 34 (30-39) | 55 (25-86) | 8 (14) | 45 (27-77) |
1
Carrier probability was calculated from the genetic relatedness to known or inferred carriers, and not from melanoma status. The calculation assumes Mendel’s laws of inheritance, Hardy-Weinberg equilibrium and a population allele frequency of 0.001. Excludes 4 UK individuals whose sex was unknown.
2
Includes confirmed and unconfirmed reports of melanoma in relatives