|
rs555607708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs797044481
|
|
TAA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs797044482
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs797044483
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs113488022
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two patients with treatment-refractory high-grade colorectal neuroendocrine tumors harboring BRAF(V600E) exhibited rapid and durable response to combined BRAF-MEK inhibition, providing the first clinical evidence of efficacy in this aggressive tumor type.Cancer Discov; 6(6); 594-600.
|
27048246 |
2016 |
|
rs113488022
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Identification of the BRAF V600E mutation in gastroenteropancreatic neuroendocrine tumors.
|
26684240 |
2016 |
|
rs121913377
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two patients with treatment-refractory high-grade colorectal neuroendocrine tumors harboring BRAF(V600E) exhibited rapid and durable response to combined BRAF-MEK inhibition, providing the first clinical evidence of efficacy in this aggressive tumor type.Cancer Discov; 6(6); 594-600.
|
27048246 |
2016 |
|
rs121913377
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Identification of the BRAF V600E mutation in gastroenteropancreatic neuroendocrine tumors.
|
26684240 |
2016 |
|
rs104894097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TP53 (p.R337C and p.R213*), PTEN (p.W111*, p.Q214*), CDKN2A (p.W110*), FBXW7 (p.R465H), and AKT1 (p.R23Q) were repetitive mutations found exclusively in rectal NETs, whereas SMAD4 (p.R361C) and STK11 (p.D176N) were repetitive mutations found only in gastric NETs.
|
30851333 |
2019 |
|
rs1060501206
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TP53 (p.R337C and p.R213*), PTEN (p.W111*, p.Q214*), CDKN2A (p.W110*), FBXW7 (p.R465H), and AKT1 (p.R23Q) were repetitive mutations found exclusively in rectal NETs, whereas SMAD4 (p.R361C) and STK11 (p.D176N) were repetitive mutations found only in gastric NETs.
|
30851333 |
2019 |
|
rs121909233
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TP53 (p.R337C and p.R213*), PTEN (p.W111*, p.Q214*), CDKN2A (p.W110*), FBXW7 (p.R465H), and AKT1 (p.R23Q) were repetitive mutations found exclusively in rectal NETs, whereas SMAD4 (p.R361C) and STK11 (p.D176N) were repetitive mutations found only in gastric NETs.
|
30851333 |
2019 |
|
rs121913520
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PTEN (p.G129K), EGFR (p.E709K), and KIT (p.V555I) were shared mutations between rectal and appendiceal NETs, whereas SMAD4 (p.R361C), ALK (p.G1202R), VHL (p.Q132*), and IDH1 (p.R132H) were concurrently detected between rectal and gastric NETs.
|
30851333 |
2019 |
|
rs1459045148
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TP53 (p.R337C and p.R213*), PTEN (p.W111*, p.Q214*), CDKN2A (p.W110*), FBXW7 (p.R465H), and AKT1 (p.R23Q) were repetitive mutations found exclusively in rectal NETs, whereas SMAD4 (p.R361C) and STK11 (p.D176N) were repetitive mutations found only in gastric NETs.
|
30851333 |
2019 |
|
rs730881979
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TP53 (p.R337C and p.R213*), PTEN (p.W111*, p.Q214*), CDKN2A (p.W110*), FBXW7 (p.R465H), and AKT1 (p.R23Q) were repetitive mutations found exclusively in rectal NETs, whereas SMAD4 (p.R361C) and STK11 (p.D176N) were repetitive mutations found only in gastric NETs.
|
30851333 |
2019 |
|
rs730882002
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TP53 (p.R337C and p.R213*), PTEN (p.W111*, p.Q214*), CDKN2A (p.W110*), FBXW7 (p.R465H), and AKT1 (p.R23Q) were repetitive mutations found exclusively in rectal NETs, whereas SMAD4 (p.R361C) and STK11 (p.D176N) were repetitive mutations found only in gastric NETs.
|
30851333 |
2019 |
|
rs36053993
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous variant causing an amino acid substitution p.(Gly396Asp) in the MutY DNA glycosylase gene (<i>MUTYH</i>) was significantly enriched in SI-NET patients (minor allele frequencies 0.013 and 0.003 for patients and controls respectively) and resulted in odds ratio of 5.09 (95% confidence interval 1.56-14.74; <i>P</i> value = 0.0038).
|
28634180 |
2017 |
|
rs351855
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Gly388Arg FGFR4 polymorphism does not seem to have a prognostic value in digestive NET.
|
26335532 |
2016 |
|
rs397517132
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of the BRAF V600E mutation in gastroenteropancreatic neuroendocrine tumors.
|
26684240 |
2016 |
|
rs777980327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of the BRAF V600E mutation in gastroenteropancreatic neuroendocrine tumors.
|
26684240 |
2016 |
|
rs869025667
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel missense mutation (p.L198P) was identified in the VHL gene in the patient from family C. This p.L198P mutation caused a phenotype with early onset of a neuroendocrine tumor of the pancreas, bilateral pheochromocytomas, and optic nerve hemangioblastoma.
|
24555745 |
2014 |
|
rs121908586
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation can occur in the germline state and lead to a syndrome that should not be confused with other genetic conditions associated with a predisposition to NETs and other tumors.
|
17566086 |
2007 |
|
rs121913521
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation can occur in the germline state and lead to a syndrome that should not be confused with other genetic conditions associated with a predisposition to NETs and other tumors.
|
17566086 |
2007 |