Table 1.
Summary of PB mutations identified in this study
| Gene | Mutation | Type | Predicted deleterious effect of mutation |
Observed in PB cohort |
Observations in COSMIC |
Cancer types in COSMIC |
|---|---|---|---|---|---|---|
| DICER1 | Y1701* | Nonsense | Truncating | 3 | 1 | Liver |
| S1585* | Nonsense | Truncating | 1 | Novel | ||
| R509* | Nonsense | Truncating | 1 | 3 | Melanoma | |
| Y1121* | Nonsense | Truncating | 2 | Novel | ||
| D1810fs | Frameshift indel | Truncating | 2 | Novel | ||
| S1158fs | Frameshift indel | Truncating | 1 | Novel | ||
| S1101fs | Frameshift indel | Truncating | 1 | Novel | ||
| D294fs | Frameshift indel | Truncating | 1 | Novel | ||
| F537fs | Frameshift indel | Truncating | 1 | Novel | ||
| S1618fs | Frameshift indel | Truncating | 1 | Novel | ||
| P642fs | Frameshift indel | Truncating | 1 | Novel | ||
| Y543N | Missense | Altered helicase domain | 1 | Novel | ||
| S1747L | Missense | Altered RNase IIIb domain | 1 | 2 | Breast | |
| R490C | Missense | Helicase Domain † | 1 | 1 | Bladder | |
| 571_573delinsKFK | Missense | Helicase Domain - unknown | 1 | Novel | ||
| DROSHA | Q163* | Nonsense | Truncating | 1 | Novel | |
| R252* | Nonsense | Truncating | 1 | Novel | ||
| H549fs | Frameshift indel | Truncating | 1 | Novel | ||
| P1072fs | Frameshift indel | Truncating | 1 | Novel | ||
| X1221_splice | Splice site | Truncating | 1 | Novel | ||
| P152L | Missense | Not in functional domain † | 1 | Novel | ||
| P67T | Missense | Not in functional domain † | 1 | 1 | Large intestine | |
| K939N | Missense | Altered RNase IIIa domain | 1 | 1 | Breast | |
| DGCR8 | S92fs | Frameshift indel | Truncating | 1 | Novel | |
| G509R | Missense | Immediately adjacent to DRBM1 domain | 1 | Novel | ||
| D248N | Missense | Not in functional domain † | 1 | Novel | ||
| XPO5 | I1111M | Missense | Unknown † | 1 | Novel | |
| P905L | Missense | Unknown † | 1 | Novel | ||
| RB1 | R320* | Nonsense | Truncating | 2 | 21 | Retinoblastoma, endometrial, breast |
| Q121* | Nonsense | Truncating | 1 | 2 | Lung, thyroid | |
| KBTBD4 | p.P311_R312dup | In-frame insertion | Altered Kelch binding domain | 2 | 0 | PPTID a, MB b |