Table 2. NBS1 miscoding mutations identified in HCC and ICC.
Patient ID | Clinical parameters * | Age/sex | NBS1 mutation | Alteration in TP53 pathway |
---|---|---|---|---|
217 | HCC/HBV(+)/Stage1/md | 50/M | Codon 41, ATC→ATG, Ile→Met | TP53 mutation, P301L |
p14ARF deletion | ||||
375 | HCC/HBV(+)/Stage1/wd | 54/M | Codon 633, TCA→ACA, Ser→Thr | p14ARF promoter methylation |
478 | HCC/HBV(–)/Stage1/md | 67/M | Codon 272, GAT→AAT, Asp→Asn | p14ARF promoter methylation |
383 | HCC/HBV(+)/Stage1/md | 48/M | Codon 348, GTT→GAT, Val→Asp | TP53 mutation, Y220C |
354 | HCC/HBV(+)/Stage1/wd | 46/M | Codon 415, AGT→AGA, Ser→Arg | MDM2 amplification |
339 | HCC/HBV(+)/Stage1/md | 42/M | Codon 603, TTC→TTA, Phe→Leu | – |
425 | ICC/HBV(–)/Stage1/md | 52/F | Codon 638, TCT→CCT, Ser→Pro | TP53 mutation, Q192H |
p14ARF promoter methylation | ||||
362 | ICC/HBV(+)/Stage1/wd | 38/M | Codon 90, ACT→TCT, Thr→Ser | p14ARF promoter methylation |
* HBV(+)/HBV(–): with/without hepatitis B virus infection; Stage 1/Stage1: tumor stage 1/>1; wd/md/pd: well/moderately/poorly differentiated.