| Cancer predisposition syndrome | Mutation rate per gamete per generation (ref) | Proportion of new mutations | Proportion of somatic mosaics among sporadic cases (ref) |
| Familial adenomatous polyposis coli (FAP) | 9×10−6 (125) | 10–25% | 11% (90) |
| 4×10−6 (126) | 21% (93) | ||
| Neurofibromatosis type 1 (NF1) | 1.4–2.6×10−4 (26) | 30–50% | Unknown |
| 3–5×10−5 (27) | |||
| Neurofibromatosis type 2 (NF2) | 6.5×10−6 (96) | 49% | 30–33% (87, 88, 91) |
| Tuberous sclerosis complex (TSC) | 2.5×10−5 (127) | >50% | ∼10%* (84) |
| 1.05×10−5 (128) | |||
| 6×10−6 (129) | |||
| Retinoblastoma (RB) | 1.23×10−5 (130) | ∼60% | 6–10%† (83, 135) |
| 6–7×10−6 (131) | |||
| 9.3–10.9×10−6 (132) | |||
| von Hippel–Lindau (VHL) | 1.4×10−6 (133) | Unknown | ∼5%‡ (86) |
| 4.4×10−6 (134) |
*Mosaicism was identified in 6/62 unrelated families with mutations in either TSC1 or TSC2.
†In 15/156 families with retinoblastoma, mosaicism was identified by Sippel et al83 and in 1/76 patients with unilateral retinoblastoma.135
‡In 2/42 families, parents were mosaic for VHL.