Table 1.
Detection rate according to personal and family history
| Category | Gene panel |
CDKN2A |
Non-CDKN2A |
CDK4 |
BAP1 |
ATM |
POT1 |
MITF |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mut | % | Mut | % | Mut | % | Mut | % | Mut | % | Mut | % | Mut | % | Mut | % | |
| Fam 2 CM cases (N = 373)a | 34 | 9.12 | 21 | 5.63 | 14 | 3.75 | 0 | 0 | 1 | 0.27 | 6 | 1.61 | 3 | 0.8 | 4 | 1.07 |
| Fam 3 or more CM cases (N = 101) | 14 | 13.9 | 10 | 9.9 | 4 | 3.96 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 4 | 3.96 |
| spoMPM 2 CM events (N = 253) | 13 | 5.14 | 8 | 3.16 | 5 | 1.98 | 0 | 0 | 0 | 0 | 1 | 0.4 | 0 | 0 | 4 | 1.58 |
| spoMPM 3 or more CM events(N = 122) | 16 | 13.1 | 9 | 7.38 | 7 | 5.74 | 1 | 0.82 | 1 | 0.82 | 0 | 0 | 1 | 0.82 | 4 | 3.28 |
| Syndromic (N = 91) | 12 | 13.2 | 4 | 4.4 | 8 | 8.79 | 0 | 0 | 3 | 3.3 | 3 | 3.3 | 0 | 0 | 2 | 2.2 |
| Total (N = 940) | 89 | 9.47 | 52 | 5.53 | 38 | 4.04 | 1 | 0.11 | 5 | 0.53 | 10 | 1.06 | 4 | 0.43 | 18 | 1.91 |
| P value | 0.016 | 0.11 | 0.052 | |||||||||||||
The table shows the rate of PVs/LPVs in each gene depending on personal and family history, and the corresponding Fisher’s exact test derived P value.
Significant P values are marked in bold.
CM, cutaneous melanoma; Fam, familial cases; LPV, likely pathogenic variant; N, number of cases; Mut, number of cases with a PV/LPV; PV, pathogenic variant; spoMPM, apparently sporadic multiple primary melanoma cases.
a
One case had both an MITF PV and an ATM LPV.