Table I.
Top candidate PC susceptibility genes.
| Gene | Chr. Pos. | Variant (HGVS nomenclature) | Samples | > 1 PTV | Segregation | LOH |
|---|---|---|---|---|---|---|
| AATF | chr17:35307578 | c.158_159dup (p.Gly54Trpfs*157) | 76A, 76B | Y | ||
| AATF | chr17:35311130 | c.755A>G (p.Asn252Ser) | 32 | Y | ||
| BLM | chr15:91292792 | c.298_299del (p.Gln100Glufs*42) | 78B | Y | ||
| CEP164 | chr11:117282575 | c.4228C>T (p.Gln1410*) | 16 | |||
| CEP164 | chr11:117244534 | c.1220C>T (p.Ser407Phe) | 53A, 53B | Y | ||
| CHD1L | chr1:146742591 | c.1086-2A>G | 90 | Y | ||
| CHD1L | chr1:146756048 | c.1730G>A (p.Gly373Asp) | 25 | Y | ||
| FAN1 | chr15:31214513 | c.2128C>T (p.Arg710*) | 42 | |||
| FAN1 | chr15:31197015 | c.149T>G (p.Met50Arg) | 58A, 58B, 34 | Y×2 | ||
| FANCG | chr9:35074472 | c.1652_1655del (p.Tyr551Phefs*7) | 50 | Y | ||
| FANCL | chr2:58386928 | c.1096_1099dup (p.Thr367Asnfs*13) | 47, 55B | Y | ||
| MC1R | chr16:89985733 | c.67C>T (p.Gln23*) | 14 | Y | ||
| MC1R | chr16:89985750 | c.86dup (p.Asn29Lysfs*14) | 69 | Y | ||
| MC1R | chr16:89986122 | c.456C>A (p.Tyr152*) | 52B | Y | Y | |
| MC1R | chr16:89986522 | c.862_864del (p.Ile288del) | 89 | Y | ||
| MGMT | chr10:131565137 | c.593G>A (p.Trp198*) | 63A | Y | ||
| NEIL1 | chr15:75641315 | c.330_331insAGGC (p.Ala111Argfs*46) | 43 | Y | ||
| NEK1 | chr4:170428209 | c.1687_1688del (p.Ala563Tyrfs*36) | 17, 78 | Y | Y | |
| NEK1 | chr4:170398474 | c.2235T>G (p.Asn648Lys) | 89 | Y | Y | |
| NEK11 | chr3:130828766 | c.455+1G>A | 68C, 68B | Y | ||
| RHNO1 | chr12:2997158 | c.250C>T (p.Arg84*) | 43 | Y | Y | |
| RHNO1 | chr12:2997245 | c.337C>T (p.Arg113*) | 18 | Y | Y | |
| RHNO1 | chr12:2994578 | c.45_46delinsAG (p.Leu16Val) | 70A, 70B | Y | Y | |
| SPP1 | chr4:88901197 | c.94-1G>A | 78A, 78B | Y | ||
| TONSL | chr8:145668147 | c.490del (p.Leu164Serfs*72) | 2 | |||
| TONSL | chr8:145660507 | c.2899C>T (p.Arg967Cys) | 3A | |||
| TONSL | chr8:145662005 | c.1950C>G (p.Asp650Glu) | 86 | Y | ||
| WDR48 | chr3:39125749 | c.1278_1279del (p.Gly427Aspfs*8) | 72 | Y | ||
| WRN | chr8:30999118 | c.3138+2T>G | 51 | |||
| WRN | chr8:31012237 | c.3785C>G (p.Thr1262Arg) | 44 | Y |
Chr. Pos. chromosomal position; >1 PTV, more than one kindred with a PTV in the corresponding gene; segregation. segregation of the variant in 2 or more PC-affected family members within a kindred; LOH, loss of heterozygosity (loss of the wild-type allele); Y, yes; ×2, occurs in 2 kindreds.