|
rs121913459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HQP1351, an orally bioavailable multikinase BCR-ABL inhibitor, is currently in clinical trials for the treatment of T315I mutant chronic myelogenous leukemia (CML), but the potential application in imatinib-resistant GISTs carrying secondary KIT mutations has not been explored.
|
31673329 |
2019 |
|
rs1312268347
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For <i>SDHC</i>, <i>c.380A>G</i> presented in 48 RCC patients, and for <i>SDHA</i> a novel germline mutation c.2T>C: p.M1T in an occasional case of gastrointestinal stromal tumor intricate with RCC.
|
31579262 |
2019 |
|
rs17084733
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the <i>KIT</i> variant rs17084733 as a possible novel genetic biomarker for risk of developing <i>KIT</i>-WT GIST.
|
30983504 |
2019 |
|
rs750380279
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For <i>SDHC</i>, <i>c.380A>G</i> presented in 48 RCC patients, and for <i>SDHA</i> a novel germline mutation c.2T>C: p.M1T in an occasional case of gastrointestinal stromal tumor intricate with RCC.
|
31579262 |
2019 |
|
rs75246947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
<i>KIT</i> 3'UTR rs17084733 and pri-miR-222 rs75246947 were found significantly associated with GIST susceptibility.
|
30983504 |
2019 |
|
rs917411291
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Germline c.1A>C heterozygous pathogenic variant in <i>SDHA</i> reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report.
|
31413764 |
2019 |
|
rs121913348
|
|
|
0.010 |
GeneticVariation |
BEFREE |
New mutated genes (<i>CDK4</i>, <i>AKT2</i>, <i>FLT3</i>, <i>ERBB2</i>, <i>ABL1</i> and <i>AKT1</i>), a higher <i>BRAF</i> mutation frequency (7.5%) and new BRAF mutation sites (G464E) were found in Chinese GIST patients.
|
29719410 |
2018 |
|
rs10509681
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study investigates the effect of common CYP2C8 polymorphisms [*1B (rs7909236), *1C (rs17110453), *3 (rs11572080 and rs10509681), and *4 (rs1058930)] on steady-state trough levels imatinib during chronic imatinib use in 43 patients with chronic myeloid leukemia or gastrointestinal stromal tumors.
|
28383355 |
2017 |
|
rs1057519711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These were PDX models harboring primary and secondary <i>KIT</i> and additional mutations; <i>KIT</i> exon 11 (p.Y570_L576del), <i>KIT</i> exon 17 (p.D816E), and <i>PTEN</i> (p.T321fs) mutations in GIST-RX1 from a patient who was unresponsive to imatinib, sunitinib, and sorafenib, and <i>KIT</i> exon 11 (p.K550_splice) and <i>KIT</i> exon 14 (p.T670I) mutations in GIST-RX2 and <i>KIT</i> exon 9 (p.502_503insYA) and <i>KIT</i> exon 17 (p.D820E) mutations in GIST-RX4 from patients with imatinib and imatinib/sunitinib resistance, respectively.
|
29100343 |
2017 |
|
rs1058930
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study investigates the effect of common CYP2C8 polymorphisms [*1B (rs7909236), *1C (rs17110453), *3 (rs11572080 and rs10509681), and *4 (rs1058930)] on steady-state trough levels imatinib during chronic imatinib use in 43 patients with chronic myeloid leukemia or gastrointestinal stromal tumors.
|
28383355 |
2017 |
|
rs7909236
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study investigates the effect of common CYP2C8 polymorphisms [*1B (rs7909236), *1C (rs17110453), *3 (rs11572080 and rs10509681), and *4 (rs1058930)] on steady-state trough levels imatinib during chronic imatinib use in 43 patients with chronic myeloid leukemia or gastrointestinal stromal tumors.
|
28383355 |
2017 |
|
rs2736098
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It showed that variant rs2736098 was significantly associated with increased risk of GIST (per allele OR = 1.29, 95% CI: 1.14-1.47, P = 7.03 × 10-5).
|
26372813 |
2015 |
|
rs397517132
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aims of this study were to investigate whether succinate dehydrogenase B (SDHB), insulin growth factor 1 receptor (IGF1R), HER2, epidermal growth factor receptor (EGFR) and/or BRAF V600E immunohistochemistry could screen for wild-type gastrointestinal stromal tumours (GISTs), and to determine what proportion of wild-type GISTs expressed these proteins and might therefore represent candidates for targeted therapies.
|
25659413 |
2015 |
|
rs1285675735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TERT promoter mutations were found in seven out of 289 tumors and in three out of 18 human cell lines; four C228T mutations in 38 ACCs (10.5%), two C228T mutations in 18 ea PGLs (11.1%), one C250T mutation in 36 GISTs (2.8%), and three C228T mutations in 16 human NBL cell lines (18.75%).
|
24951106 |
2014 |
|
rs148634289
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TERT promoter mutations were found in seven out of 289 tumors and in three out of 18 human cell lines; four C228T mutations in 38 ACCs (10.5%), two C228T mutations in 18 ea PGLs (11.1%), one C250T mutation in 36 GISTs (2.8%), and three C228T mutations in 16 human NBL cell lines (18.75%).
|
24951106 |
2014 |
|
rs1056836
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836).
|
23637977 |
2013 |
|
rs1800440
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836).
|
23637977 |
2013 |
|
rs2855658
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836).
|
23637977 |
2013 |
|
rs1186206565
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we have investigated Eng expression in the Kit(K641E) mouse GIST model, in human GIST and in the Ba/F3 cell model.
|
21435173 |
2012 |
|
rs371828253
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a recurrent CASP4 mutation (c.1093C>G [p.L365V]) in 4 gastrointestinal stromal tumors, but there were no mutations in the other 10 CASPs.
|
19269008 |
2009 |
|
rs756847384
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a recurrent CASP4 mutation (c.1093C>G [p.L365V]) in 4 gastrointestinal stromal tumors, but there were no mutations in the other 10 CASPs.
|
19269008 |
2009 |
|
rs778015444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Activate and resist: L576P-KIT in GIST.
|
19723893 |
2009 |
|
rs780708976
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present case is the first proven case of multiple GIST with a c-kit germline mutation in Korea and is distinguishable from other reported germ-line c-kit mutations because the same 1676 T --> C missense mutation occurs in the normal allele as well as the affected allele, although the significance of the identical mutations remains to be investigated.
|
16185297 |
2005 |
|
rs200871174
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This finding was validated in four separate tumors, two gastric and two intestinal, from a patient with familial GIST with a germ-line KIT W557R substitution.
|
15161681 |
2004 |
|
rs969139366
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These were PDX models harboring primary and secondary <i>KIT</i> and additional mutations; <i>KIT</i> exon 11 (p.Y570_L576del), <i>KIT</i> exon 17 (p.D816E), and <i>PTEN</i> (p.T321fs) mutations in GIST-RX1 from a patient who was unresponsive to imatinib, sunitinib, and sorafenib, and <i>KIT</i> exon 11 (p.K550_splice) and <i>KIT</i> exon 14 (p.T670I) mutations in GIST-RX2 and <i>KIT</i> exon 9 (p.502_503insYA) and <i>KIT</i> exon 17 (p.D820E) mutations in GIST-RX4 from patients with imatinib and imatinib/sunitinib resistance, respectively.
|
29100343 |
2017 |