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BIOMARKER:

MSI-H/dMMR

i
Other names: MSI-H, Microsatellite instability - high, dMMR
Related biomarkers:
Related tests:
1d
Real-World Evidence for 10 Oncology Drugs Approved in the last 5 years: A Comprehensive Narrative Synthesis. (PubMed, Crit Rev Oncol Hematol)
RWE confirms the effectiveness and safety of multiple recently approved oncology drugs reinforcing the external validity of RCTs.
Review • Journal • HEOR • Real-world evidence • MSi-H Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • MSI (Microsatellite instability)
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HER-2 positive • MSI-H/dMMR • HER-2 negative • ESR1 mutation
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Enhertu (fam-trastuzumab deruxtecan-nxki) • Lumakras (sotorasib) • Retevmo (selpercatinib) • Jemperli (dostarlimab-gxly) • Krazati (adagrasib) • Tepmetko (tepotinib) • Tabrecta (capmatinib) • Trodelvy (sacituzumab govitecan-hziy) • Padcev (enfortumab vedotin-ejfv) • Orserdu (elacestrant)
1d
Precision oncology in Bulgaria: a prospective study of metastatic colorectal cancer patients. (PubMed, Cancer Treat Res Commun)
This study provides a regional molecular profile of advanced CRC in Bulgaria, highlighting a high prevalence of KRAS mutations and dMMR status, while underrepresentation of rare targetable alterations, likely due to limited use of broad molecular profiling. The association between stromal features and MMR status supports their potential role as surrogate markers in settings with constrained testing resources. Findings underscore the urgent need for equitable access to molecular diagnostics and targeted therapies to close the survival gap between Eastern and Western Europe.
Journal
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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) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • NTRK (Neurotrophic receptor tyrosine kinase)
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TP53 mutation • BRAF V600E • KRAS mutation • EGFR mutation • MSI-H/dMMR • PIK3CA mutation • BRAF V600 • HER-2 mutation • AKT1 mutation
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Ventana MMR RxDx Panel • TruSight Tumor 15 Assay
1d
Integrating molecular classification into endometrial cancer management. (PubMed, Eur J Surg Oncol)
We also discussed implementation challenges, including test standardization, reporting, equity of access, and areas of ongoing uncertainty. This position paper aims to support consistent, equitable, and biologically informed management of endometrial carcinoma in contemporary practice.
Review • Journal
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ER (Estrogen receptor) • MSI (Microsatellite instability)
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ER positive • MSI-H/dMMR • ER negative
3d
Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma. (PubMed, ESMO Open)
DMMR occurs in a minority of ACC, often without MSI. Although Lynch syndrome accounts for a subset of cases, dMMR is not predictive of clinical features or ICI response. Nonetheless, MMR testing remains important for identifying individuals at hereditary cancer risk.
Journal • Mismatch repair • Microsatellite instability • IO 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)
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MSI-H/dMMR
3d
Study of HRO761 Alone or in Combination in Cancer Patients With Specific DNA Alterations Called Microsatellite Instability or Mismatch Repair Deficiency. (clinicaltrials.gov)
P1, N=327, Active, not recruiting, Novartis Pharmaceuticals | Recruiting --> Active, not recruiting | Trial completion date: May 2029 --> Aug 2027 | Trial primary completion date: May 2029 --> Aug 2027
Enrollment closed • Trial completion date • Trial primary completion date • Mismatch repair • MSI-H • dMMR
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MSI-H/dMMR
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Keytruda (pembrolizumab) • irinotecan • HRO761
3d
Immunotherapy response in microsatellite-stable poorly differentiated thyroid carcinoma with mismatch repair deficiency and high tumor mutational burden. (PubMed, Arch Endocrinol Metab)
Based on these findings, pembrolizumab was initiated as first-line therapy...Our findings underscore that alternative biomarkers, such as somatic mutations in DNA repair genes including MSH2 and ATM, may predict unexpected responses to immune checkpoint blockade and inform therapeutic decisions, even in the context of MSS and borderline TMB. Broader implementation of molecular profiling is warranted to identify such patients.
Journal • Mismatch repair • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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PD-L1 expression • TMB-H • MSI-H/dMMR • ATM mutation
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Keytruda (pembrolizumab)
3d
Local and central testing for HER2, PD-L1, MSI/MMR, EBV, and CLDN18.2 in advanced gastric cancer: results from the SAPHIR registry. (PubMed, ESMO Real World Data Digit Oncol)
Deviating test results of HER2 and PD-L1 by local and central pathology may reflect limitations in testing methodologies. In addition, these patients might not receive the most effective treatment.
Journal • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • MSI (Microsatellite instability) • CLDN18 (Claudin 18)
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MSI-H/dMMR
3d
Real-world management and outcome of patients with pancreatic adenocarcinoma. Results of the Spanish RETUD gastrointestinal registry. (PubMed, ESMO Real World Data Digit Oncol)
54.9% of resectable patients received adjuvant chemotherapy after upfront surgery, with a median overall survival (mOS) of 33.3 months (range: 26.1 months-not reached) for those treated with Folfirinox. 79.5% of metastatic patients received first-line chemotherapy, primarily gemcitabine and nab-paclitaxel (62.6%), with a mOS of 8.7 months (range: 7.1-9.6 months)...Adherence to international guidelines varied, and clinical trial participation was low. Additionally, access to molecular testing was limited, remaining a significant challenge.
Journal • Real-world evidence • BRCA Biomarker • MSi-H Biomarker
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KRAS (KRAS proto-oncogene GTPase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability)
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MSI-H/dMMR
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gemcitabine • albumin-bound paclitaxel • irinotecan
3d
Advances in immunotherapy for bladder cancer and clinical practice of next-generation sequencing. (PubMed, Front Immunol)
The exploration of molecular characteristics and subtypes of bladder cancer and the development of new drugs and treatment strategy have also stimulated more clinical studies of bladder cancer. Here, we review advances in the treatment of bladder cancer and clinical practice of next-generation sequencing, highlight important advances in immunotherapy for bladder cancer, preliminarily summarize molecular features of bladder cancer for clinical practice, and came up with direction for future treatment development.
Review • Journal • Next-generation sequencing • Tumor mutational burden • MSi-H Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • FGFR (Fibroblast Growth Factor Receptor)
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TMB-H • MSI-H/dMMR
3d
European screening platform for EORTC clinical trials in advanced colorectal cancer 'SPECTAcolor'. (PubMed, ESMO Gastrointest Oncol)
SPECTAcolor has generated a clinical and molecular dataset with associated samples for >800 CRC patients for future academic research such as biomarker validation. Linking screening platforms to therapeutic trials and ensuring sustainability remain challenging.
Journal • BRCA Biomarker • MSi-H Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • FGFR (Fibroblast Growth Factor Receptor) • BRCA (Breast cancer early onset)
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MSI-H/dMMR
3d
Real-world characteristics and outcomes of patients with BRAFV600E-mutant metastatic colorectal cancer in Australia: the COALA project. (PubMed, ESMO Real World Data Digit Oncol)
Uptake and impact of encorafenib plus cetuximab (EC), since being available in Australia from May 2019, were examined. The COALA study provides the first Australian real-world profile of BRAFV600E-mutated mCRC. These findings underscore the importance of early and effective therapeutic strategies, and identify a novel, disproportionately affected very-young subgroup requiring targeted research and clinical focus.
Journal • Real-world evidence
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BRAF (B-raf proto-oncogene)
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BRAF V600E • MSI-H/dMMR • BRAF V600 • BRAF wild-type
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Erbitux (cetuximab) • Braftovi (encorafenib)
3d
BBOpCo: Botensilimab and Balstilimab Optimization in Colorectal Cancer (clinicaltrials.gov)
P2, N=16, Active, not recruiting, Nicholas DeVito, MD | Recruiting --> Active, not recruiting
Enrollment closed
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MSI (Microsatellite instability)
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MSI-H/dMMR
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Avastin (bevacizumab) • 5-fluorouracil • Vectibix (panitumumab) • oxaliplatin • leucovorin calcium • balstilimab (AGEN2034) • botensilimab (AGEN1181)