Table 3.
List of variants grouped according to gene function
| Gene group | Location | AA | Codon | Patients (%) |
|---|---|---|---|---|
| DNA repair | ||||
| ATM | chr11:108121426 | – | c.1236-2A>T | 2 (15.4) |
| BLM | chr15:91304138 |
p.N515fs na |
c.1544delA c.*468delA |
1 (7.7) |
| BRCA2 | chr13:32954022 |
p.T18fs p.T3033fs |
c.52insA c.9097insA |
1 (7.7) |
| ERCC5 | chr13:103524611 |
p.K150fs p.K917fs |
c.450delA c.2751delA |
5 (38.4) |
| MSH6 | chr2:48030639 |
p.F56fs p.F1088fs – p.F958fs p.F786fs |
c.165delC c.3261delC c.*2608delC c.2871delC c.2355delC |
6 (46.1) |
| RAD50 | chr5:131931451 |
p.K722fs – – p.?661fs |
c.2165delA c.*1791delA c.*351delA c.1982delA |
4 (30.8) |
| WRN | chr8:30915970 | p.K5fs | c.15delA | 2 (15.4) |
| Multidrug resistance/xenobiotic metabolism | ||||
| ABCB1 | chr7:87160618 |
p.S893A p.S829A |
c.2677T>G c.2485T>G |
3 (23.0) |
| CYP2B6 | chr19:41515263 | p.K262R | c.785A>G | 6 (46.1) |
| CYP2C9 | chr10:96702047 | p.R144C | c.430C>T | 1 (7.7) |
| CYP2D6 | chr22:42524994 |
p.P34S p.P12S |
c.100C>T c.34C>T |
2 (15.4) |
| GSTP1 | chr11:67352689 |
– p.I105V |
c.*137A>G c.313A>G |
2 (15.4) |
| SLCO1B1 | chr12:21331549 | p.V174A | c.521T>C | 2 (15.4) |
| Cell cycle control/proliferation | ||||
| CTNNB1 | chr3:41266098 |
p.D32V p.D25V |
c.95A>T c.74A>T |
1 (7.75) |
| FGFR2 | chr10:123274794 |
p.Y261C p.Y147C p.Y287C p.Y263C p.Y286C p.Y375C p.Y376C p.Y377C p.Y260C – |
c.782A>G c.440A>G c.860A>G c.788A>G c.857A>G c.1124A>G c.1127A>G c.1130A>G c.779A>G c.*171A>G |
1 (7.75) |
| FGFR4 | chr5:176520243 |
p.G23R p.G388R |
c.67G>A c.1162G>A |
1 (7.75) |
| TP53 | chr17:7579447 |
p.G254D p.G113D p.G206D p.G152D p.G86D p.G234D |
c.374G>A c.338G>A c.617G>A c.455G>A c.257G>A c.701G>A |
1 (7.75) |
| TP53* | chr17:7579407 |
p.A86fs p.A47fs |
c.257del279 c.140del162 |
1 (7.75) |
| Signal transduction signalling | ||||
| PIK3CA | chr3:178952085 | p.H1047R | c.3140A>G | 1 (7.75) |
| PIK3CA* | chr3:178952085 | p.H1047L | c.3140A>T | 1 (7.75) |
| SOS1 | chr2:39249927 | p.S548R | c.1642A>C | 1 (7.75) |
| Chromatin structure | ||||
| ASXL1 | chr20:31022441 |
p.G641fs p.G646fs |
c.1919insG c.1934insG |
3 (23.0) |
| Liver transcription factor | ||||
| HNF1A | chr12:121432114 |
p.P291fs p.G226fs – |
c.864delG c.677delG c.*304delG |
12 (92.3) |
| Apoptosis | ||||
| BAX | chr19:49458970 |
p.E41fs p.R24fs p.E24fs |
c.121insG c.69insG c.70insG |
9 (69.2) |
| DNA methylation | ||||
| DNMT3A | chr2:25457242 |
– p.R693H p.R659H p.R882H |
c.*498G>A c.2078G>A c.1976G>A c.2645G>A |
2 (15.4) |
Chromosome location, amino acid (AA) change and codon change are indicated
(na, not available)