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BIOMARKER:
MSI-H/dMMR + MLH1 deletion + PMS2 deletion
i
Other names:
MSI | Microsatellite instability, MLH1, COCA2, FCC2, HNPCC, HNPCC2, MutL homolog 1, PMS2, PMS1 Homolog 2, Mismatch Repair System Component, PMS1 Homolog 2, Mismatch Repair Protein, Mismatch Repair Endonuclease PMS2, DNA Mismatch Repair Protein PMS2, PMS1 Protein Homolog 2, PMSL2, PMS2 Postmeiotic Segregation Increased 2, Postmeiotic Segregation Increased 2 Nirs Variant 6, PMS2 Postmeiotic Segregation Increased 2, HNPCC4, PMS2CL, MLH4
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Entrez ID:
4292
;
5395
Related biomarkers:
Expression
Mutation
CNA
Others
‹
MSI-H/dMMR (182)
MSI-H/dMMR + TMB-H (8)
MSI-L/dMMR (6)
MSI-H/dMMR + TMB-L (5)
PTEN mutation + MSI-H/dMMR (5)
MSI-H/dMMR + POLE mutation (4)
ARID1A mutation + MSI-H (3)
MSI-H/dMMR + TMB-H + PD-L1 negative (3)
BRAF V600E + MSI-H (2)
BRAF V600E + PIK3CA mutation + SMAD4 mutation + MSI-H/dMMR (2)
MSI-H/dMMR + TMB-H + PD-L1 overexpression (2)
MSI-L/dMMR + KRAS G12V (2)
MSI-H/dMMR + MLH1 deletion (2)
B2M mutation + MSI-H/dMMR (1)
BRAF mutation + TMB-L + MSI-L/dMMR (1)
ER positive + MLH1 1835del3 + MSI-H/dMMR + TMB-H (1)
JAK1 mutation + MSI-H/dMMR (1)
JAK2 mutation + MSI-H/dMMR (1)
KRAS wild-type + NRAS wild-type + MSI-H/dMMR (1)
MLH1 methylation + MSI-H/dMMR (1)
MLH1 methylation + MSI-H/dMMR + TMB-H (1)
MSH6 mutation + MLH1 mutation + MSI-H (1)
MSI-H + HER-2 amplification (1)
MSI-H + MSH2 expression + MSH6 expression (1)
MSI-H/dMMR + BRAF Mutation (1)
MSI-H/dMMR + HER-2 mutation (1)
MSI-H/dMMR + KDR overexpression (1)
MSI-H/dMMR + KRAS Mutation (1)
MSI-H/dMMR + KRAS wild-type + BRAF wild-type (1)
MSI-H/dMMR + MLH1 negative + PMS2 negative (1)
MSI-H/dMMR + NTRK1 fusion (1)
MSI-H/dMMR + NTRK2 fusion (1)
MSI-H/dMMR + NTRK3 fusion (1)
MSI-H/dMMR + PD-1 expression + CD8 positive (1)
MSI-H/dMMR + RAS mutation (1)
MSI-H/dMMR + TP53 mutation (1)
NOTCH1 mutation + TMB-L + MSI-L/dMMR (1)
PD-L1 expression + MSI-H/dMMR (1)
PIK3CA E542Q + TMB-H + MSI-H/dMMR (1)
SMARCA4 deletion + dMMR/MSI-H + PD-L1 underexpression (1)
TMB-H + PD-L1 expression + MSI-L/dMMR (1)
MSI-H/dMMR + PMS2 deletion (1)
AKT1 E17K + CTNNB1 G34R + ER Y537S + MSI-H (0)
MSI-H/dMMR + RAS wild-type (0)
MSI-L/dMMR + SMAD4 mutation (0)
PIK3CA mutation + TMB-L + MSI-L/dMMR (0)
MSI-H/dMMR (182)
MSI-H/dMMR + TMB-H (8)
MSI-L/dMMR (6)
MSI-H/dMMR + TMB-L (5)
PTEN mutation + MSI-H/dMMR (5)
MSI-H/dMMR + POLE mutation (4)
ARID1A mutation + MSI-H (3)
MSI-H/dMMR + TMB-H + PD-L1 negative (3)
BRAF V600E + MSI-H (2)
BRAF V600E + PIK3CA mutation + SMAD4 mutation + MSI-H/dMMR (2)
MSI-H/dMMR + TMB-H + PD-L1 overexpression (2)
MSI-L/dMMR + KRAS G12V (2)
MSI-H/dMMR + MLH1 deletion (2)
B2M mutation + MSI-H/dMMR (1)
BRAF mutation + TMB-L + MSI-L/dMMR (1)
ER positive + MLH1 1835del3 + MSI-H/dMMR + TMB-H (1)
JAK1 mutation + MSI-H/dMMR (1)
JAK2 mutation + MSI-H/dMMR (1)
KRAS wild-type + NRAS wild-type + MSI-H/dMMR (1)
MLH1 methylation + MSI-H/dMMR (1)
MLH1 methylation + MSI-H/dMMR + TMB-H (1)
MSH6 mutation + MLH1 mutation + MSI-H (1)
MSI-H + HER-2 amplification (1)
MSI-H + MSH2 expression + MSH6 expression (1)
MSI-H/dMMR + BRAF Mutation (1)
MSI-H/dMMR + HER-2 mutation (1)
MSI-H/dMMR + KDR overexpression (1)
MSI-H/dMMR + KRAS Mutation (1)
MSI-H/dMMR + KRAS wild-type + BRAF wild-type (1)
MSI-H/dMMR + MLH1 negative + PMS2 negative (1)
MSI-H/dMMR + NTRK1 fusion (1)
MSI-H/dMMR + NTRK2 fusion (1)
MSI-H/dMMR + NTRK3 fusion (1)
MSI-H/dMMR + PD-1 expression + CD8 positive (1)
MSI-H/dMMR + RAS mutation (1)
MSI-H/dMMR + TP53 mutation (1)
NOTCH1 mutation + TMB-L + MSI-L/dMMR (1)
PD-L1 expression + MSI-H/dMMR (1)
PIK3CA E542Q + TMB-H + MSI-H/dMMR (1)
SMARCA4 deletion + dMMR/MSI-H + PD-L1 underexpression (1)
TMB-H + PD-L1 expression + MSI-L/dMMR (1)
MSI-H/dMMR + PMS2 deletion (1)
AKT1 E17K + CTNNB1 G34R + ER Y537S + MSI-H (0)
MSI-H/dMMR + RAS wild-type (0)
MSI-L/dMMR + SMAD4 mutation (0)
PIK3CA mutation + TMB-L + MSI-L/dMMR (0)
›
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MSI-H/dMMR + MLH1 deletion + PMS2 deletion
Colorectal Cancer
MSI-H/dMMR + MLH1 deletion + PMS2 deletion
Colorectal Cancer
Immunotherapy
Resistant: C3 – Early Trials
Immunotherapy
Resistant
:
C3
Immunotherapy
Resistant: C3 – Early Trials
Immunotherapy
Resistant
:
C3
MSI-H/dMMR + MLH1 deletion + PMS2 deletion
Esophageal Adenocarcinoma
MSI-H/dMMR + MLH1 deletion + PMS2 deletion
Esophageal Adenocarcinoma
pembrolizumab
Sensitive: C4 – Case Studies
pembrolizumab
Sensitive
:
C4
pembrolizumab
Sensitive: C4 – Case Studies
pembrolizumab
Sensitive
:
C4
MSI-H/dMMR + MLH1 deletion + PMS2 deletion
Colorectal Cancer
MSI-H/dMMR + MLH1 deletion + PMS2 deletion
Colorectal Cancer
pembrolizumab
Sensitive: C4 – Case Studies
pembrolizumab
Sensitive
:
C4
pembrolizumab
Sensitive: C4 – Case Studies
pembrolizumab
Sensitive
:
C4
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