Copyright
©The Author(s) 2017.
World J Gastroenterol. Dec 21, 2017; 23(47): 8291-8299
Published online Dec 21, 2017. doi: 10.3748/wjg.v23.i47.8291
Published online Dec 21, 2017. doi: 10.3748/wjg.v23.i47.8291
Table 2 COSMIC and novel mutations detected by Ion Torrent sequencing
Histopathology | Cases ID | Age, yr | Sex | TNM staging | Gene | Mutation type | COSMIC No. |
Stomach | |||||||
AC (D) | 3 | 66 | F | T2N0 | SMARCB1 | p.T72K | Novel |
AC (D) | 14 | 80 | F | T4aNxM1 | APC | p.D1570N | Novel |
CDH1 | p.V82A | Novel | |||||
HRAS | p.V44M | Novel | |||||
NRAS | p.K135R | Novel | |||||
AC (D) | 39 | 65 | F | T1aN0M0 | EGFR | p.A750T | COSM1651572 |
DDR2 | p.E523K | Novel | |||||
AC (D) | 43 | 43 | M | T4bNxM1 | PTEN | p.E256G | Novel |
AC (D) | 77 | 78 | M | TxNxM1 | APC | p.A1582P | COSM4170230 |
AC (I) | 100 | 69 | M | T3N3M1 | APC | p.A1582P | COSM4170230 |
NET | 11 | 67 | M | 5% PR | CDKN2A | p.V126I | COSM13778 |
Dysplasia | 78 | 77 | M | T0N0M0 | APC | p.A1582P | COSM4170230 |
Colorectal | |||||||
AC | 20 | 70 | M | T3N0M0 | KIT | p.N564S | COSM30732 |
AC | 12 | 71 | F | T3N1bM0 | APC | p.A1582P | COSM4170230 |
TP53 | p.P72A | COSM3738520 | |||||
AC | 21 | 79 | M | T2N0 | APC | p.A1582P | COSM4170230 |
AC | 22 | 64 | F | T2N0 | STK11 | p.F354L | COSM21360, COSM4169323 |
SMO | p.N202S | COSM5979442 | |||||
AC | 23 | 53 | M | TxNxM1 | APC | p.A1582P | COSM4170230 |
AC | 31 | 64 | M | T2N0 | TP53 | p.Y205D | COSM43844 |
AC | 55 | 69 | M | T3N0M0 | KRAS | p.G12V | COSM520 |
TP53 | p.T172fs | COSM44371 | |||||
AC | 68 | 63 | M | T3N0M0 | TP53 | p.Y163H | COSM43846 |
AC | 28 | 77 | F | T1N0 | KRAS | p.G12D | COSM521 |
AKT1 | p.E17K | COSM34142, COSM33765 | |||||
Adenoma | 24 | 81 | M | APC | p.E1295* | COSM18961 | |
Adenoma | 19 | 64 | F | NRAS | p.Q61R | COSM584, COSM28048 | |
FBXW7 | p.R505C | COSM22975, COSM33844 | |||||
APC | p.S1465fs | COSM18873, COSM19688 COSM19332, COSM18931, COSM13864 | |||||
ERBB2 | p.V842I | COSM14065, COSM1666633 | |||||
SMARCB1 | p.R377C | COSM3972885 | |||||
Leiomyoma | 94 | 69 | F | TP53 | p.R306* | COSM10663, COSM145026 | |
Healthy controls | |||||||
C 2 | F | 27 | ALK | p.L1190P | Novel | ||
C 8 | F | 33 | STK11 | p.Y36H | Novel |
- Citation: Youssef O, Sarhadi V, Ehsan H, Böhling T, Carpelan-Holmström M, Koskensalo S, Puolakkainen P, Kokkola A, Knuutila S. Gene mutations in stool from gastric and colorectal neoplasia patients by next-generation sequencing. World J Gastroenterol 2017; 23(47): 8291-8299
- URL: https://www.wjgnet.com/1007-9327/full/v23/i47/8291.htm
- DOI: https://dx.doi.org/10.3748/wjg.v23.i47.8291