Table 2.
Somatic mutations of uncertain significance (VUS) identified in patients with HGSC.
| Gene mutation | Genetic polymorphism | NCBI Genomes Browser | Frequency |
|---|---|---|---|
| ROS1 | exon1: c.49C>G: p.Leu17Val | 1 | |
| exon43: c.6797C>T p.Thr2266Met | 1 | ||
| exon5: c.433A>C: p.Thr145Pro | 5 | ||
| exon6: c.500G>A: p.Arg167Gln | 4 | ||
| exon12: c.1519A>G: p.Asn507Asp | 1 | ||
| exon8: c.799A>G: p.Asn267Asp | 1 | ||
| exon12: c.1538 A>T: p.Asp513Val | 1 | ||
| exon41: c.4484T>G p.Tyr2162Asp | 1 | ||
| CCNE1 | c.779A>T: p.Asn260Ile chr19: 30312976A>T | rs61750863 | 1 |
| MEN1 | c.541G>T: p.Ala181Ser chr11: 64575491C>A | rs376872829 | 1 |
| c.563C>T: p.Pro188Leu chr6: 64575454G>A | rs199706698 | 1 | |
| TP53 | exon7: c.721del: p.Ser241fs | 1 | |
| exon5: c.552_553del: p.Asp184fs | 1 | ||
| exon7: c.685_690del p.Cys229_Thr230del | 1 | ||
| PTEN | exon5: c.365T>G: p.Ile122Ser | 1 | |
| ATM | exon12: p.Leu612Pro c.1835T>C | 11 | |
| FGFR3 | exon5: c.560C>A: p.Ser187Tyr | 1 | |
| MSH2 | exon11: c.1681G>A: p.Glu561Lys | 1 | |
| c.1045C>G p.Pro349Alachr2: 47643537C>G | rs267607939 | 1 | |
| NOTCH1 | c.4103G>A: p.Arg1368His chr9: 139400245C>T (hg19) | rs779086531 | 1 |
| exon21: c.3395G>A: p.Arg1132His | 1 | ||
| exon14: c.2353G>A: p.Gly785Ser | 1 | ||
| MYC | c.737C>T: p.Pro246Leu chr8: 128751200C>T | rs545330879 | 1 |
| IDH1 | c.388A>G: p.Ile130Val chr6: 209113119T>C | rs762479277 | 1 |
| KMT2C | c.943G>T: p.Gly315Cys chr7: 151970859 C>A | rs149992209 | 1 |
| exon56: c.14358 T>G: p.Tyr4786Ter | 1 | ||
| AR | c.158G>A: p.Ser53Asn chrX: 66765146G>A | 1 | |
| c.1208 C>T: p.Ala403Val chrX: 66766196 C>T | rs772490323 | 1 | |
| exon1: c.1174 C>T: p.Pro392Ser | 1 | ||
| RAD51 | c.707G>A: p.Arg236Gln chr15: 41021762 G>A | 1 | |
| c.197C>T p.Thr66Met | 1 | ||
| RAD50 | c. 980 G>A p.R327H chr5: 131923710 G>A | rs28903091 | 1 |
| c.130A>T: p.Thr44Ser chr5:131894976A>T | rs377388354 | 1 | |
| c.1636-3T>G chr5:131927566T>G |
1 | ||
| CHEK2 | c.320-5T>A chr22: 29121360 A>T | rs121908700 | 1 |
| BRCA2 | exon11: c.4412_4414del: p.Arg1471del | 1 | |
| exon11: c.3985A>G: p.Arg1329Gly | 2 | ||
| JAK2 | exon3: c.143G>A: p.Gly48Glu | 1 | |
| KDR | exon14: c.2012G>A: p.Gly671Glu | 1 | |
| PALB2 | exon13: c.3428T>A: p.Leu1143His | 1 | |
| BCL2 | exon2: c.119_120del: p.Pro40ArgfsTer112 | 1 | |
| CHECK1 | exon10: c.1040C>A p.Pro347His | 1 | |
| MSH6 | exon5: c.3256C>A: p.Pro1086Thr | 1 | |
| BRCA1 | exon10: c.3367G>T: p.Asp1123Tyr | 1 | |
| MYC1 | exon2: c.77A>G: p.Asn26Ser | 1 | |
| CTNNB1 | exon12: c.1907C>T: p.Ala636Val | 1 | |
| FANCL | c.203G>c p.Arg68Pro | 1 | |
| PDGFRA | exon22: c.3082G>T p.Val1028Phe | 1 | |
| STK11 | c.911G>A p.Arg304Glnchr19:1221996G>A hg | rs376280361 | 1 |