Lifetime risk of all cancers in CDKN2A p.Arg112dup carriers FDRs (n=275) and SDRs (n=321)
| FDRs | Expected* | RR (95% CI) | SDRs | Expected* | RR (95% CI) | |
|---|---|---|---|---|---|---|
| Melanoma | 28 | 1.36 | 20.6 (11.6 to 36.7) | 8 | 1.66 | 4.8 (2.1 to 10.9) |
| Pancreas | 13 | 0.6 | 21.6 (9.1 to 49.9) | 3 | 0.8 | 3.8 (1.1 to 14.9) |
| Respiratory | 9 | 1.5 | 6.0 (2.8 to 13.1) | 5 | 1.8 | 2.8 (1.0 to 7.2) |
| Digestive—upper | 7 | 2.1 | 3.3 (1.5 to 7.6) | 6 | 2.6 | 2.3 (1.0 to 5.6) |
| Haematopoietic or lymphatic | 2 | 1.8 | 1.1 (0.3 to 4.6) | 2 | 2.2 | 0.9 (0.2 to 3.8) |
| Gynaecological | 7 | 6.7 | 1.0 (0.5 to 2.2) | 8 | 8.2 | 1.0 (0.5 to 2.0) |
| Endocrine | 4 | 1.4 | 2.9 (1.0 to 8.6) | 0 | 1.7 | 0.0 |
| Skin (non-melanoma) | 4 | 2.9 | 1.4 (0.5 to 3.9) | 0 | 4.3 | 0.0 |
| Breast | 8 | 4.2 | 1.9 (0.9 to 4.0) | 7 | 5.1 | 1.4 (0.6 to 3.0) |
| CNS | 3 | 1.4 | 2.1 (0.6 to 7.1) | 0 | 1.7 | 0.0 |
| Digestive—lower | 5 | 4.3 | 1.2 (0.5 to 2.9) | 2 | 5.3 | 0.4 (0.1 to 1.5) |
| Urinary | 8 | 7.3 | 1.1 (0.5 to 2.9) | 12 | 8.9 | 1.3 (0.7 to 2.5) |
| Connective tissue | 1 | 0.3 | 3.3 (0.3 to 25.3) | 1 | 0.4 | 2.5 (0.3 to 20.6) |
| Unknown primary tumour | 3 | 1.2 | 2.5 (0.8 to 8.9) | 0 | 1.4 | 0.0 |
| All non-melanoma cancers | 74 | 35.7 | 2.1 (1.6 to 2.7) | 46 | 44.4 | 1.0 (0.8 to 1.4) |
*In controls, numbers of expected cases are calculated to correspond to equal person years as for carriers.
FDR, first degree relative; RR, relative risk; SDR, second degree relative.