Background
Methods
Patients
Ion PGM library preparation and sequencing
Variant calling
Statistical analysis
Results
Number of cases (%) | |
---|---|
Number of cases | 99 |
Males | 58 (58.6) |
Females | 41 (41.4) |
Age | |
Below 50 years old | 25 (25.3) |
Above 50 years old | 74 (74.7) |
Tumor location | |
Right colon | 22 (22.2) |
Left colon | 47 (47.5) |
Rectum | 27 (27.3) |
Undetermined | 3 (03.0) |
Lymph node status | |
LN+ | 46 (46.5) |
LN− | 41 (41.4) |
Undetermined | 12 (12.1) |
Grade | |
Grade 1 (well-differentiated) | 16 (16.2) |
Grade 2 (moderately-differentiated) | 61 (61.6) |
Grade 3 (poorly-differentiated) | 10 (10.1) |
Undetermined | 12 (12.1) |
Survival status | |
Recurrence | 42 (42.4) |
Dead | 24 (24.2) |
Alive | 74 (74.7) |
Undetermined | 01 (01.0) |
Gene | Mutations detected |
---|---|
TP53 | p.Ala69Val, p.Pro72Ala, p.Pro72Ser, p.Thr81Ile, p.Pro82Leu, p.Ala84Val, p.Pro87Leu, p.Trp91Ter, p.Ser94Ter, p.Ser95Phe, p.Ser96Phe, p.Pro98Leu, p.Ser99Phe, p.Gln100Ter, p.Arg110Leu, p.Leu130Ile, p.Lys132Arg, p.Cys135Ter, p.Leu137Gln, p.Pro151Thr, p.Pro152Leu, p.Gly154Asp, p.Gly154Ser, p.Arg156His, p.Val157Ile, p.Val157Phe, p.Ala161Thr, p.Tyr163Cys, p.Gln165Ter, p.Ser166Leu, p.His168Pro, p.His168Tyr, p.Glu171Lys, p.Val172Ile, p.Val173Ala, p.Val173Met, p.Arg175His, p.Arg175Leu, p.Pro177Ser, p.His179Arg, p.His179Tyr, p.Cys182Tyr, p.Ser183Leu, p.Gly187Ser, p.Pro190 fs, p.Arg196Ter, p.Gly199Glu, p.Arg202Cys, p.Arg209 fs, p.Thr211Ile, p.Arg213Ter, p.Ser215Asn, p.Val216Met, p.Tyr220Asn, p.Tyr220Cys, p.Glu221Gly, p.Gly226Ser, p.Cys229Tyr, p.Tyr234Cys, p.Cys238Tyr, p.Ser240Arg, p.Ser240Asn, p.Gly244Asp, p.Gly245Ser, p.Met246Val, p.Arg248Gln, p.Arg248Trp, p.Arg249Ser, p.Thr253Ile, p.Glu258Gln, p.Gly266Arg, p.Gly266Glu, p.Arg267Gln, p.Ser269Asn, p.Glu271Lys, p.Val272Met, p.Arg273Cys, p.Arg273His, p.Cys275Phe, p.Cys277Phe, p.Gly279Glu, p.Arg280Lys, p.Asp281Asn, p.Arg282Trp, p.Glu285Lys, p.Glu287Lys, p.Arg290His, p.Pro300Leu, p.Pro300Ser, p.Gly302Glu, p.Arg306Ter, p.Glu336Lys, c.559 + 3G > C, c.560-1G > C, c.376-1G > A |
APC | p.Asn869Thr, p.Arg876Ter, p.Arg1114Ter, p.Glu1286Ter, p.Ala1296 fs, p.Ala1299Val, p.Ile1307Lys, p.Ile1307 fs, p.Glu1309Ter, p.Glu1309 fs, p.Ala1351Thr, p.Ser1356Ter, p.Ser1360Tyr, p.Gln1367Ter, p.Glu1374Ter, p.Gln1378Ter, p.Glu1379Ter, p.Pro1439Leu, p.Arg1450Ter, p.Glu1461Lys, p.Ser1465 fs, p.Leu1488 fs, p.Leu1488Ter, p.His1490Leu, p.His1490 fs, p.Ser1495 fs, p.Ser1501 fs, p.Thr1556 fs, p.Glu1576Lys, p.Glu1577Ter |
KRAS | p.Ala11Val, p.Gly12Val, p.Gly12Ser, p.Gly12Asp, p.Gly13Asp, p.Val14Ile, p.Gln22Lys, p.Gln61His, p.Ala146Thr |
PIK3CA | p.Arg88Gln, p.Arg108His, p.Leu339Ile, p.Asn345Lys, p.Asp350Gly, p.Cys420Arg, p.Pro539His, p.Glu542Lys, p.Glu545Asp, p.Glu545Gly, p.Glu545Lys, p.Gln546His, p.Arg1023Ter, p.Thr1025Ala, p.Asn1044Ser, p.His1047Arg, p.His1048Arg, p.Ala1066Thr, p.Ter1069 fs |
PTEN | p.Lys6Glu, p.Glu7Ter, p.Asp24Asn, p.Gln110Ter, p.Asp115Asn, p.Cys124Tyr, p.Ala126Val, p.Arg130Gln, p.Gly165Glu, p.Ser170Asn, p.Gln171Ter, p.Arg173Cys, p.Pro246Leu, p.Val255Ile, p.Glu256Lys, p.Pro339Ser |
SMAD4 | p.Arg100Met, p.Arg135Ter, p.Gln245Ter, p.Gln248Ter, p.Thr259Ile, p.Glu330Lys, p.Ser343Ter, p.Gly352Arg, p.Arg361His, p.Arg361His, p.Arg361His, p.Cys499Tyr, p.Arg531Gln |
EGFR | p.Gly109Glu, p.Gly696Arg, p.Pro699Ser, p.Gly719Ser, p.Gly719Cys, p.Gly721Ser, p.Trp731Ter, p.Glu746Lys, p.Thr751Ile, p.Ala755Thr, p.Glu758Lys, p.Leu858Met, p.Gly863Asp, p.Ala864Val, p.Gly873Glu |
FBXW7 | p.Arg465Cys, p.Arg465His, p.Met467Ile, p.Arg479Gln, p.Arg479Pro, p.Arg479Ter |
BRAF | p.Gly469Val, p.Gly469Ala, p.Val600Glu, p.Lys601Glu |
RB1 | p.Ile680Thr, p.Leu683Phe |
RET | p.Cys618Tyr, p.Asp627Gly, p.Glu884Val, p.Glu901Lys, p.Leu923Phe |
ATM | p.Val410Ala, p.Phe858Leu, p.Thr1735 fs, p.Leu2866Val |
NOTCH1 | p.Arg1598His, p.His1601Leu, p.Pro2438Ser, p.Gln2440Ter |
STK11 | p.Glu165Lys, p.Gly171Ser, p.Gly279Arg, p.Phe354Leu |
KIT | p.Pro37Ser, p.Arg49His, p.Asp52Asn, p.Asp572Asn |
KDR | p.Lys270Asn, p.Gly1145Glu, p.Pro1354Ser |
CDH1 | pThr342Ile, p.Thr399Ile |
PTPN11 | p.Glu69Lys, p.Thr73Ile, p.Glu76Lys |
ERBB2 | p.Met774Ile, p.Val851Met, p.Thr862Ala, p.His878Tyr |
SMO | p.Val404Met, p.Leu412Phe, p.Pro634Leu |
CTNNB1 | p.Met12Ile, p.Pro16Ser, p.Val22Ile, p.Ser37Phe |
VHL | p.Gln132Ter, p.Arg161Gln, p.Arg167Gln, c.341-1G > A |
CDKN2A | p.Glu88Lys, p.Arg99Trp, p.Asp125Asn, p.Arg128Gln |
FLT3 | p.Ser446Leu, p.Lys602Arg, p.Trp603Ter |
IDH2 | p.Arg140Gln, p.Arg140Trp |
FGFR3 | p.Asp643Asn, p.Ala719Thr |
MPL | p.Ala506Thr, p.Ala519Val, p.Ala519Thr |
PDGFRA | p.Pro553Leu, p.Glu563Lys |
NRAS | p.Gln61Arg |
MET | c.2942-20_2943del22, p.Asn375Ser |
MLH1 | p.His381Arg |
HRAS | p.Glu63Lys |
JAK3 | p.Ala573Val |
AKT1 | p.Glu49Lys |
ERBB4 | p.Pro616Ser |
JAK3 | p.Ala572Thr |
SMARCB1 | p.Arg190Gln |
ABL1 | p.Thr334Ile |
Variable | Hazard ratio | 95 % CI | P |
---|---|---|---|
Age of onset (<50 years old) | 0.262 | 0.062–1.102 | 0.068 |
Lymph node metastasis | 4.559 | 1.582–13.139 | 0.005 |
Tumor grade | 1.093 | 0.424–2.820 | 0.854 |
PIK3CA mutations | 1.421 | 0.282–7.163 | 0.670 |
KRAS mutations | 1.635 | 0.493–5.414 | 0.421 |
EGFR mutations | 3.639 | 1.221–10.850 | 0.020 |