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BIOMARKER:

MSH3 mutation

i
Other names: MSH3, MutS Homolog 3, Divergent Upstream Protein, Mismatch Repair Protein 1, DNA Mismatch Repair Protein Msh3, HMSH3, MRP1, DUP, Epididymis Secretory Sperm Binding Protein, MutS (E. Coli) Homolog 3, MutS Homolog 3 (E. Coli), FAP4, DUC1, DUG
Entrez ID:
Related biomarkers:
30d
GC 2nd Line Durvalumab(MEDI4736)/Tremelimumab Plus Paclitaxel Study (clinicaltrials.gov)
P1/2, N=58, Completed, Asan Medical Center | Active, not recruiting --> Completed
Trial completion
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PD-L1 (Programmed death ligand 1) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • POLD1 (DNA Polymerase Delta 1) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1) • POLD2 (DNA Polymerase Delta 2)
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MSI-H/dMMR • MSH2 mutation • MLH1 mutation • PD-L1 amplification • POLD1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation • POLD2 mutation
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Imfinzi (durvalumab) • paclitaxel • Imjudo (tremelimumab)
4ms
Identification and characterization of immunogenic neoantigens in colorectal cancer (CRC). (ASCO-GI 2024)
This is one of the largest studies to investigate the landscape of immunogenic neoantigens in CRC. We were able to identify candidate recurrent peptides with high HLA binding affinity and an association with a positive TIS signature supporting the role of neoantigens as potential cancer immunotherapy targets.
MSi-H Biomarker • IO biomarker
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MSI (Microsatellite instability) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2D (Lysine Methyltransferase 2D) • RNF43 (Ring Finger Protein 43) • APC (APC Regulator Of WNT Signaling Pathway) • MSH3 (MutS Homolog 3) • SOX9 (SRY-Box Transcription Factor 9)
|
MSI-H/dMMR • APC mutation • RNF43 mutation • MSH3 mutation
11ms
Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns. (PubMed, Elife)
CDK12 is associated with tandem-duplications, and we here demonstrate that this association can accurately predict gene deficiency in prostate cancers (area under the ROC curve=0.97). Our novel associations include mono- or biallelic LOF variants of ATRX, IDH1, HERC2, CDKN2A, PTEN, and SMARCA4, and our systematic approach yielded a catalogue of predictive models, which may provide targets for further research and development of treatment, and potentially help guide therapy.
Journal • BRCA Biomarker • PARP Biomarker • Pan tumor
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDK12 (Cyclin dependent kinase 12) • ATRX (ATRX Chromatin Remodeler) • MSH3 (MutS Homolog 3) • DRD (DNA Repair Deficiency)
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TP53 mutation • BRCA2 mutation • BRCA1 mutation • DDR • CDK12 mutation • MSH3 mutation • DRD
1year
GC 2nd Line Durvalumab(MEDI4736)/Tremelimumab Plus Paclitaxel Study (clinicaltrials.gov)
P1/2, N=58, Active, not recruiting, Asan Medical Center | Unknown status --> Active, not recruiting | Trial completion date: Jun 2021 --> Jun 2023 | Trial primary completion date: Jun 2021 --> Jun 2023
Enrollment closed • Trial completion date • Trial primary completion date • Metastases
|
PD-L1 (Programmed death ligand 1) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • POLD1 (DNA Polymerase Delta 1) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1) • POLD2 (DNA Polymerase Delta 2)
|
MSI-H/dMMR • MSH2 mutation • MLH1 mutation • PD-L1 amplification • POLD1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation • POLD2 mutation
|
Imfinzi (durvalumab) • paclitaxel • Imjudo (tremelimumab)
1year
Analysis of Concordance Between NGS-MSI and IHC-MMR from 180,000 Solid Tumors (USCAP 2023)
Analysis of 180,000 tumors revealed a high concordance of IHC-MMR/NGS-MSI with a rate of 99.7%. In 20% of MMRp/MSI-H cases, interpretation of IHC lead to misdiagnosis that the NGS-MSI would have avoided. Clinical outcome from a large cohort of patients show NGS is not inferior compared to IHC in identifying patients with MSI-H/MMRd.
MSi-H Biomarker • IO biomarker • Next-generation sequencing • Discordant
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1)
|
MSI-H/dMMR • MSH2 mutation • MLH1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation
|
MI Tumor Seek™
over1year
Analysis of concordance between microsatellite instability by next generation sequencing (NGS-MSI) and mismatch repair deficiency by immunohistochemistry (IHC-MMR) in >28,000 colorectal tumors. (ASCO-GI 2023)
Here we report from >28,000 CRC tumors that the concordance of IHC-MMR/NGS-MSI is 99.74%. Clinical outcome from a large cohort of patients show NGS is not inferior compared to IHC in identifying patients with MSI-H/MMRd. The additional lens that NGS-MSI offers is of value in identifying CRC patients who may benefit from ICI therapy.
Next-generation sequencing • Mismatch repair • Microsatellite instability • MSi-H Biomarker • IO biomarker • Discordant
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1)
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MSI-H/dMMR • MSH2 mutation • MLH1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation
over1year
Individualized combination therapies based on whole-exome sequencing displayed significant clinical benefits in a glioblastoma patient with secondary osteosarcoma: case report and genetic characterization. (PubMed, BMC Neurol)
Individualized combination therapies based on whole-exome sequencing displayed significant clinical benefits in this case. Germline MSH3 and ERCC4 mutation may induce a secondary osteosarcoma in glioblastoma patients.
Journal • Combination therapy • PD(L)-1 Biomarker
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PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase) • CDH1 (Cadherin 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • EPAS1 (Endothelial PAS domain protein 1) • MSH3 (MutS Homolog 3) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit)
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NF1 mutation • TERT mutation • MSH3 mutation • IDH wild-type • SETD2 mutation • ERCC4 mutation
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Keytruda (pembrolizumab) • everolimus • temozolomide
over1year
Molecular Characterization of Adenocarcinomas Arising in the Urinary Bladder Following Augmentation Cystoplasty: A Multi-Institutional Study. (PubMed, Hum Pathol)
Despite the unique environment of the augmented tissue, the resulting tumors demonstrate a spectrum of driver mutations similar to that of primary gastrointestinal adenocarcinomas. Importantly, molecular alterations potentially amenable to targeted therapy were identified in the majority of cases.
Clinical • Journal • BRCA Biomarker
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • EML4 (EMAP Like 4) • MSH3 (MutS Homolog 3)
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ALK fusion • MSH3 mutation
almost2years
A UNIQUE GERMLINE MSH3 MUTATION IS ASSOCIATED WITH CYTOPLASMIC/MEMBRANOUS LOCALIZATION OF MSH3 AND LOSS OF DNA REPAIR FUNCTION, AND SPORADIC FOCAL LOSS OF MUTSα WITHIN TUMORS (DDW 2022)
Mechanistically, we hypothesize that mutant MSH3 protein (1) may be sequestered in cytoplasm; (2) may be resistant to protein degradation; and (3) may compete with MSH6 for MSH2 binding causing a reduction of MutSα. To test our hypothesis, MSH3-knockout cells will be used to evaluate biological effects of both c.2436-1G>A or c.3265>T mutations.
Tumor Mutational Burden • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • MSH3 (MutS Homolog 3)
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KRAS mutation • BRAF mutation • APC mutation • MSH3 mutation
2years
The Mutation of BTG2 Gene Predicts a Poor Outcome in Primary Testicular Diffuse Large B-Cell Lymphoma. (PubMed, J Inflamm Res)
Finally, we constructed an OS predict model of PT-DLBCL patients using above factors with a high accuracy. In conclusion, our results revealed genomic characterization of PT-DLBCL, and the mutation of BTG2 was an independent factor predicting a poor prognosis.
Journal
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NOTCH1 (Notch 1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • ETV6 (ETS Variant Transcription Factor 6) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • MSH3 (MutS Homolog 3) • PIM1 (Pim-1 Proto-Oncogene) • BTG2 (BTG Anti-Proliferation Factor 2)
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MSH3 mutation • PIM1 mutation
2years
Prevalence and Spectrum of Predisposition Genes With Germline Mutations Among Chinese Patients With Bowel Cancer. (PubMed, Front Genet)
Chinese patients with bowel cancer exhibited a distinct spectrum of germline variants, with distinct molecular characteristics such as TMB and DDR. Furthermore, the information on somatic mutations obtained from TCGA database indicated that a deeper understanding of the interactions among DDR and immune cells would be useful to further investigate the role of DDR in bowel cancer.
Journal • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • CDH1 (Cadherin 1) • RAD51D (RAD51 paralog D) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1) • FLCN (Folliculin) • FANCD2 (FA Complementation Group D2)
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ATM mutation • APC mutation • MLH1 mutation • RAD51D mutation • MSH3 mutation • PMS1 mutation • RAD51 mutation
over2years
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis. (PubMed, PLoS One)
Our data suggest that MSH3-related colorectal carcinogenesis seems to follow the classical APC-driven pathway. In line with the specific function of MSH3 in the mismatch repair (MMR) system, we identified a characteristic APC mutational pattern in MSH3-deficient adenomas, and confirmed further driver genes for colorectal tumourigenesis.
Clinical • Journal
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APC (APC Regulator Of WNT Signaling Pathway) • MSH3 (MutS Homolog 3) • ACVR2A (Activin A Receptor Type 2A)
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APC mutation • MSH3 mutation
over2years
[VIRTUAL] Novel Predictive and Prognostic Gene Signatures for Chemoradiotherapy in Locally Advanced Esophageal Adenocarcinoma (ASTRO 2021)
Materials/ We assembled a cohort of 34 patients with locally advanced esophageal adenocarcinoma, with the majority (21) receiving concurrent chemoradiotherapy with carboplatin/paclitaxel. We have identified a 3-gene signature (EPHA5, BCL6 and ERBB2) that is predictive of response to neoadjuvant therapy and a separate 9 gene classifier which prognosticates for survival outcomes. These provide significant potential for personalized management of locally advanced esophageal cancer.
Gene Signature
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HER-2 (Human epidermal growth factor receptor 2) • EML4 (EMAP Like 4) • ARID1A (AT-rich interaction domain 1A) • BCL6 (B-cell CLL/lymphoma 6) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • NOTCH2 (Notch 2) • CSF3R (Colony Stimulating Factor 3 Receptor) • MSH3 (MutS Homolog 3) • GATA2 (GATA Binding Protein 2) • ETS1 (ETS Proto-Oncogene 1) • EPHA5 (EPH Receptor A5) • MAP3K6 (Mitogen-Activated Protein Kinase Kinase Kinase 6) • RECQL4( RecQ Like Helicase 4) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • PCLO (Piccolo Presynaptic Cytomatrix Protein)
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HER-2 mutation • MSH3 mutation • EPHA5 mutation
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carboplatin • paclitaxel
over2years
Novel Predictive and Prognostic Gene Signatures for Chemoradiotherapy in Locally Advanced Esophageal Adenocarcinoma. (PubMed, Int J Radiat Oncol Biol Phys)
We have identified a 3-gene signature (EPHA5, BCL6 and ERBB2) that is predictive of response to neoadjuvant therapy and a separate 9 gene classifier which prognosticates for survival outcomes. These provide significant potential for personalized management of locally advanced esophageal cancer.
Journal • Gene Signature
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HER-2 (Human epidermal growth factor receptor 2) • EML4 (EMAP Like 4) • ARID1A (AT-rich interaction domain 1A) • BCL6 (B-cell CLL/lymphoma 6) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • NOTCH2 (Notch 2) • CSF3R (Colony Stimulating Factor 3 Receptor) • MSH3 (MutS Homolog 3) • GATA2 (GATA Binding Protein 2) • ETS1 (ETS Proto-Oncogene 1) • EPHA5 (EPH Receptor A5) • MAP3K6 (Mitogen-Activated Protein Kinase Kinase Kinase 6) • RECQL4( RecQ Like Helicase 4) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • PCLO (Piccolo Presynaptic Cytomatrix Protein)
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HER-2 mutation • MSH3 mutation • EPHA5 mutation
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carboplatin • paclitaxel
over2years
The molecular portrait of TSC1 / 2- mutated vs TSC1 / 2-wildtype PEComas (DGHO 2021)
This study revealed a heterogeneous molecular landscape with a high prevalence of TSC1 / 2 mutations that were in part associated with transcriptional up-regulation of the PIK3-Akt-mTOR pathway. This might explain why only a part of PEComa patients benefitted clinically when treated with the mTOR inhibitor nab-sirolismus. Furthermore, the relatively immune-cold TME compared to melanoma suggests increased lymphocyte infiltration may be required to increase the efficacy of immune checkpoint inhibitors for PEComa.
Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • ERCC2 (Excision repair cross-complementation group 2) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1) • MSH3 (MutS Homolog 3)
|
PD-L1 expression • TP53 mutation • TMB-H • MSI-H/dMMR • TSC1 mutation • TSC2 mutation • MSH3 mutation
|
MI Tumor Seek™
over2years
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8. (PubMed, Genome Med)
Increased copy number of chromosome arm 8q was most prevalent among tumors with microsatellite instability, including a case of translocation involving 8q. Subclonal analysis identified co-occurring driver mutations previously known to be exclusive.
Journal
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MSI (Microsatellite instability) • MSH3 (MutS Homolog 3)
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MSH3 mutation
over2years
[VIRTUAL] A case of leiomyosarcoma with high tumour mutation burden, mi- crosatellite instability, mismatch repair deficiency and significant PD-L1 expression (ECP 2021)
We report a rare case of leiomyosarcoma with MSI-high status, high TMB (>10/megabase), MMR protein loss and significant PD- L1 expression. The presence of a significant number of tumour infiltrating lymphocytes within the tumour and at the periphery may be a histologic clue to MSI high status. However, more study is needed.
Clinical • Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker • Mismatch repair
|
PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • BCL2 (B-cell CLL/lymphoma 2) • RB1 (RB Transcriptional Corepressor 1) • KMT2D (Lysine Methyltransferase 2D) • MSH6 (MutS homolog 6) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • MSH3 (MutS Homolog 3)
|
PD-L1 expression • TP53 mutation • TMB-H • MSI-H/dMMR • KMT2D mutation • RB1 mutation • MSH3 mutation
|
FoundationOne® CDx • PD-L1 IHC 22C3 pharmDx
almost3years
[VIRTUAL] Deciphering the molecular landscape and the tumor microenvironment of perivascular epitheloid cell neoplasma (PEComa). (ASCO 2021)
Within this study we discovered a heterogeneous molecular landscape with a high prevalence of TSC1/2 mutations that were in part associated with transcriptional up-regulation of the PIK3-Akt-mTOR pathway . Furthermore, the relatively immune-cold TME compared to melanoma suggests increased lymphocyte infiltration may be required to increase the efficacy of immune checkpoint inhibitors for PEComa.
Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • ERCC2 (Excision repair cross-complementation group 2) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1) • MSH3 (MutS Homolog 3)
|
PD-L1 expression • TP53 mutation • TMB-H • MSI-H/dMMR • TSC1 mutation • TSC2 mutation • MTOR mutation • MSH3 mutation
|
MI Tumor Seek™
over3years
Clinicopathological and Molecular Profiles of Sporadic Microsatellite Unstable Colorectal Cancer with or without the CpG Island Methylator Phenotype (CIMP). (PubMed, Cancers (Basel))
Only TNM stage was a statistically significant predictor of outcomes independent of CIMP profiles in MSI-high CRC patients. Sporadic MSI-high CRCs with different mechanisms of carcinogenesis have specific mutation profiles and clinicopathological features.
Clinical • Journal • MSi-H Biomarker
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • MSI (Microsatellite instability) • SMAD4 (SMAD family member 4) • POLD1 (DNA Polymerase Delta 1) • MSH3 (MutS Homolog 3)
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TP53 mutation • KRAS mutation • MSI-H/dMMR • BRAF mutation • SMAD4 mutation • MSH3 mutation
over3years
Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer. (PubMed, Front Oncol)
Notably, CCNE1 amplification is a novel potential prognostic marker and therapeutic target for non-BRCA carriers with TNBC. Cyclin E1 may be used instead of CCNE1 to improve clinical applicability.
Clinical • Journal • Tumor Mutational Burden • BRCA Biomarker • MSi-H Biomarker
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • CCNE1 (Cyclin E1) • BRCA (Breast cancer early onset) • MSH3 (MutS Homolog 3)
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BRCA2 mutation • BRCA1 mutation • MSI-H/dMMR • PIK3CA mutation • CCNE1 amplification • BRCA1 mutation + BRCA2 mutation • MSH3 mutation
over3years
[VIRTUAL] Mismatch repair (MMR) protein expression and next-generation sequencing (NGS) result in microsatellite instability-high (MSI-H) colorectal cancer (ECP 2020)
NGS using 44 tumor tissue showed the following results : group1, pathogenic MLH1 mutation(n=6) and pathogenic PMS2 mutation(n=2); group2, pathogenic MSH6 frameshift variant mutation(n=1) and MSH2 Conflicting interpretations of pathogenicity(n=1); group3, MSH2 mutation(n=5), MSH6 mutation(n=2) and pathogenic MSH3 mutation(n=3); group4, pathogenic MSH6 and MSH3 mutation(n=1); group6, pathogenic MSH6 mutation(n=7), MSH2 mutation(n=7) and Pathogenic MSH3 mutation(n=1); group7, MSH2 mutation(n=1). Conclusion NGS is useful to understanding the molecular mechanism of MMR protein deficiency in CRCs.
Next-generation sequencing • Microsatellite instability • MSi-H Biomarker
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3)
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MSI-H/dMMR • MSH6 mutation • MSH2 mutation • MSH3 mutation • PMS2 mutation
over3years
[VIRTUAL] Mismatch repair (MMR) protein expression and next-generation sequencing (NGS) result in microsatellite instability-high (MSI-H) colorectal cancer (ECP 2020)
NGS using 44 tumor tissue showed the following results : group1, pathogenic MLH1 mutation(n=6) and pathogenic PMS2 mutation(n=2); group2, pathogenic MSH6 frameshift variant mutation(n=1) and MSH2 Conflicting interpretations of pathogenicity(n=1); group3, MSH2 mutation(n=5), MSH6 mutation(n=2) and pathogenic MSH3 mutation(n=3); group4, pathogenic MSH6 and MSH3 mutation(n=1); group6, pathogenic MSH6 mutation(n=7), MSH2 mutation(n=7) and Pathogenic MSH3 mutation(n=1); group7, MSH2 mutation(n=1). Conclusion NGS is useful to understanding the molecular mechanism of MMR protein deficiency in CRCs.
Next-generation sequencing • Microsatellite instability • MSi-H Biomarker
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3)
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MSI-H/dMMR • MSH6 mutation • MSH2 mutation • MSH3 mutation • PMS2 mutation
over3years
[VIRTUAL] Mismatch repair (MMR) protein expression and next-generation sequencing (NGS) result in microsatellite instability-high (MSI-H) colorectal cancer (ECP 2020)
NGS using 44 tumor tissue showed the following results : group1, pathogenic MLH1 mutation(n=6) and pathogenic PMS2 mutation(n=2); group2, pathogenic MSH6 frameshift variant mutation(n=1) and MSH2 Conflicting interpretations of pathogenicity(n=1); group3, MSH2 mutation(n=5), MSH6 mutation(n=2) and pathogenic MSH3 mutation(n=3); group4, pathogenic MSH6 and MSH3 mutation(n=1); group6, pathogenic MSH6 mutation(n=7), MSH2 mutation(n=7) and Pathogenic MSH3 mutation(n=1); group7, MSH2 mutation(n=1). Conclusion NGS is useful to understanding the molecular mechanism of MMR protein deficiency in CRCs.
Next-generation sequencing • Microsatellite instability • MSi-H Biomarker
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3)
|
MSI-H/dMMR • MSH6 mutation • MSH2 mutation • MSH3 mutation • PMS2 mutation
over3years
Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population. (PubMed, Cancer Med)
In summary, we report the mutational landscape of CRC in a Taiwanese population. NGS is a cost-effective and time-saving method, and we believe that NGS will help clinicians to treat CRC patients in the near future.
Clinical • Journal
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • SMAD4 (SMAD family member 4) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • PMS2 (PMS1 protein homolog 2) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1) • SOX9 (SRY-Box Transcription Factor 9) • TCF7L2 (Transcription Factor 7 Like 2) • MSH4 (MutS Homolog 4)
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TP53 mutation • KRAS mutation • NRAS mutation • PIK3CA mutation • MSH3 mutation • PMS2 mutation • PIK3R1 mutation • PMS1 mutation
almost4years
[VIRTUAL] MMR deficiency of lung cancer patients. (ASCO 2020)
Here is an interesting lung cancer case which was called EGFR T790M, TP53 and MSH2 somatic mutations without any germline mutations, and this patient showed no response to Osimertinib... MMR deficiency was found in 4.3% chinese lung cancer and 27% of them concurrent with EGFR. Research Funding: None
Clinical
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1)
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TP53 mutation • EGFR mutation • EGFR T790M • MSH2 mutation • MLH1 mutation • MSH3 mutation • PMS2 mutation • PMS1 mutation
|
Tagrisso (osimertinib)
almost4years
[VIRTUAL] Evaluating the clinical, environmental, genetic, and genomic profile of men with early-onset aggressive prostate cancer (PCa). (ASCO 2020)
Our preliminary data suggest high rates of germline mutations in early onset lethal PCa. This aggressive subset of disease requires further studying to better characterize the underlying clinical/genomic factors driving this disease. Research Funding: Prostate Cancer Foundation
Clinical • Tumor Mutational Burden • BRCA Biomarker
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • ERG (ETS Transcription Factor ERG) • MSH3 (MutS Homolog 3) • TMPRSS2 (Transmembrane serine protease 2)
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TP53 mutation • BRCA2 mutation • ATM mutation • PTEN mutation • MSH3 mutation • TMPRSS2-ERG fusion
almost4years
[VIRTUAL] Clinicopathologic analysis of MMR gene mutations and uterine adenocarcinomas: An updated population-based study. (ASCO 2020)
EEC G3 harbored the most MMR mutations among EC. EEC G3 and USC could be more considered to screen MMR mutation due to more MMR mutations occurred in EEC G3 and USC than did among EEC G2 and EEC G1. Besides MLH1, MSH2, MSH6, PMS2 and EPCAM mutation, MLH3, MSH3, PMS1 mutation could be screened in patients with newly diagnosed endometrial carcinoma.
Clinical
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MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1)
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MSH2 mutation • MLH1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation
4years
[VIRTUAL] A novel gene signature for predicting response to chemoradiotherapy in locally advanced esophageal adenocarcinoma. (ASCO 2020)
A cohort of 31 EAC patients treated with chemotherapy or chemoradiotherapy was assembled, with a majority of patients receiving carboplatin, paclitaxel and concurrent radiotherapy. Using a systematic biomarker discovery approach, we have developed a novel biomarker signature that robustly predicts response to CRT in EAC patients and has a significant potential for personalized management of locally advanced EAC patients. Research Funding: None
Tumor Mutational Burden • Gene Signature • IO biomarker
|
ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • EML4 (EMAP Like 4) • PALB2 (Partner and localizer of BRCA2) • LAG3 (Lymphocyte Activating 3) • NOTCH2 (Notch 2) • IDO1 (Indoleamine 2,3-dioxygenase 1) • CXCL9 (Chemokine (C-X-C motif) ligand 9) • MSH3 (MutS Homolog 3) • RECQL4( RecQ Like Helicase 4)
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ALK mutation • MSH3 mutation
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carboplatin • paclitaxel