microsatellite instability


Summary: The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.

Top Publications

  1. Garber K. Oncologists await historic first: a pan-tumor predictive marker, for immunotherapy. Nat Biotechnol. 2017;35:297-298 pubmed publisher
  2. Marisa L, Svrcek M, Collura A, Becht E, Cervera P, Wanherdrick K, et al. The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors. J Natl Cancer Inst. 2018;110: pubmed publisher
    ..Their associations with patient survival were analyzed by Cox models, taking into account the microsatellite instability (MSI) status and affiliation with various Consensus Molecular Subgroups (CMS)...
  3. Libera L, Sahnane N, Carnevali I, Cimetti L, Cerutti R, Chiaravalli A, et al. Microsatellite analysis of sporadic and hereditary gynaecological cancer in routine diagnostics. J Clin Pathol. 2017;70:792-797 pubmed publisher
    b>Microsatellite instability (MSI) testing is tricky in gynaecological cancers (GC). Thus, we aimed to describe the instability patterns to improve MSI test interpretation in sporadic and hereditary GCs...
  4. Poulos R, Olivier J, Wong J. The interaction between cytosine methylation and processes of DNA replication and repair shape the mutational landscape of cancer genomes. Nucleic Acids Res. 2017;45:7786-7795 pubmed publisher
    ..mutation-methylation association across colorectal cancer subtypes, most interestingly in samples with microsatellite instability (MSI) or Polymerase epsilon (POLE) exonuclease domain mutations...
  5. Ngeow J, Eng C. Population-based universal screening for Lynch syndrome: ready, set... How?. J Clin Oncol. 2013;31:2527-9 pubmed publisher
  6. Alvi M, Loughrey M, Dunne P, McQuaid S, Turkington R, Fuchs M, et al. Molecular profiling of signet ring cell colorectal cancer provides a strong rationale for genomic targeted and immune checkpoint inhibitor therapies. Br J Cancer. 2017;117:203-209 pubmed publisher
    ..b>Microsatellite instability (MSI) status was established and immunohistochemistry (IHC) was used to test for adaptive immunity (CD3) ..
  7. Pecina Slaus N, Kafka A, Bukovac A, Vladusić T, Tomas D, Hrascan R. Genetic changes of MLH1 and MSH2 genes could explain constant findings on microsatellite instability in intracranial meningioma. Tumour Biol. 2017;39:1010428317705791 pubmed publisher
    ..The defects in its functioning will give rise to microsatellite instability. In this study, 50 meningiomas were investigated for microsatellite instability...
  8. Greene C, Nakakura E, Ko A. Gastrocutaneous Fistula in a Patient with Locally Recurrent MSI-High Colorectal Cancer: Local Complications Arising from Therapeutic Response to Immune Checkpoint Blockade. Anticancer Res. 2017;37:3679-3684 pubmed
    Colorectal cancers with high microsatellite instability (MSI-H) have distinct clinical features in terms of their prognosis, recurrence patterns, and sensitivity to immunotherapeutic agents...
  9. Girardi D, Silva A, Rêgo J, Coudry R, Riechelmann R. Unraveling molecular pathways of poorly differentiated neuroendocrine carcinomas of the gastroenteropancreatic system: A systematic review. Cancer Treat Rev. 2017;56:28-35 pubmed publisher
    ..Other consistently found molecular alterations were microsatellite instability (MSI) in approximately 10% of gastric and colorectal NEC, and altered signaling cascades of p16/Rb/..

More Information


  1. Rios A, Rodriguez J, Carbonel P, Parrilla P. [BAX as a susceptibility factor in hereditary non polyposis colorectal cancer]. Rev Esp Enferm Dig. 2015;107:520-1 pubmed
  2. Mahasneh A, Al Shaheri F, Jamal E. Molecular biomarkers for an early diagnosis, effective treatment and prognosis of colorectal cancer: Current updates. Exp Mol Pathol. 2017;102:475-483 pubmed publisher
    ..In this review, we will outline the most currently available and developing tumor tools, and blood molecular biomarkers. Also, we will illustrate their diagnostic, therapeutic and prognostic applications. ..
  3. Kastrinos F, Syngal S. Screening patients with colorectal cancer for Lynch syndrome: what are we waiting for?. J Clin Oncol. 2012;30:1024-7 pubmed publisher
  4. Jain A, Motil K, Olutoye O, Cope Yokoyama S, Egler R, Tatevian N. Colon cancer in a 16-year-old girl: signet-ring cell carcinoma without microsatellite instability--an unusual suspect. J Pediatr Gastroenterol Nutr. 2009;48:110-4 pubmed publisher
  5. Kim M, Yoo N, Lee S. Frameshift mutation at mononucleotide repeat in ERCC5 in gastric carcinomas with microsatellite instability. Pathology. 2009;41:394-5 pubmed publisher
  6. Czink E, Kloor M, Goeppert B, Fröhling S, Uhrig S, Weber T, et al. Successful immune checkpoint blockade in a patient with advanced stage microsatellite-unstable biliary tract cancer. Cold Spring Harb Mol Case Stud. 2017;3: pubmed publisher
    ..The patient's tumor displayed DNA MMR deficiency and microsatellite instability (MSI) but lacked other features commonly discussed as predictors of response toward checkpoint blockade, ..
  7. Overman M, McDermott R, Leach J, Lonardi S, Lenz H, Morse M, et al. Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer (CheckMate 142): an open-label, multicentre, phase 2 study. Lancet Oncol. 2017;18:1182-1191 pubmed publisher
    Metastatic DNA mismatch repair-deficient (dMMR)/microsatellite instability-high (MSI-H) colorectal cancer has a poor prognosis after treatment with conventional chemotherapy and exhibits high levels of tumour neoantigens, tumour-..
  8. Sveen A, Johannessen B, Tengs T, Danielsen S, Eilertsen I, Lind G, et al. Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1. Genome Med. 2017;9:46 pubmed publisher
    ..have DNA mismatch repair deficiency, causing a complex genome with thousands of small mutations-the microsatellite instability (MSI) phenotype...
  9. Wielandt A, Villarroel C, Hurtado C, Simian D, Zamorano D, Martínez M, et al. [Characterization of patients with sporadic colorectal cancer following the new Consensus Molecular Subtypes (CMS)]. Rev Med Chil. 2017;145:419-430 pubmed publisher
    ..Three carcinogenic pathways determine its molecular profile: microsatellite instability (MSI), chromosomal instability (CIN) and CpG island methylator phenotype (CIMP)...
  10. Gu L, Chen M, Guo D, Zhu H, Zhang W, Pan J, et al. PD-L1 and gastric cancer prognosis: A systematic review and meta-analysis. PLoS ONE. 2017;12:e0182692 pubmed publisher
    ..positive lymph-node metastasis, positive venous invasion, Epstein-Barr virus infection positive (EBV+), Microsatellite Instability (MSI) are more likely to expression PD-L1...
  11. Le Gallo M, Rudd M, Urick M, Hansen N, Zhang S, Lozy F, et al. Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing. Cancer. 2017;123:3261-3268 pubmed publisher
    ..Twenty-two genes-of-interest were Sanger-sequenced from another 47 cases of CCEC. Microsatellite instability (MSI) and microsatellite stability (MSS) were determined by genotyping 5 mononucleotide repeats...
  12. Kim K, Lee T, Kim J, Cho N, Kim W, Kang G. Deletion in HSP110 T17: correlation with wild-type HSP110 expression and prognostic significance in microsatellite-unstable advanced gastric cancers. Hum Pathol. 2017;67:109-118 pubmed publisher
    ..been identified as a prognostic marker that is correlated with wild-type HSP110 (HSP110wt) expression in microsatellite instability-high (MSI-H) colorectal cancers...
  13. Gymrek M, Willems T, Reich D, Erlich Y. Interpreting short tandem repeat variations in humans using mutational constraint. Nat Genet. 2017;49:1495-1501 pubmed publisher
    ..Constraint scores identified known pathogenic variants with early-onset effects. Our metric will provide a valuable tool for prioritizing pathogenic STRs in medical genetics studies. ..
  14. Ricker C, Hanna D, Peng C, Nguyen N, Stern M, Schmit S, et al. DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. Cancer. 2017;123:3732-3743 pubmed publisher
    ..5% of patients met at least 1 criterion. Of the 161 individuals who had immunohistochemistry and/or microsatellite instability testing performed, 21 (13.0%) had mismatch repair (MMR)-deficient (dMMR) tumors...
  15. Nebot Bral L, Brandao D, Verlingue L, Rouleau E, Caron O, Despras E, et al. Hypermutated tumours in the era of immunotherapy: The paradigm of personalised medicine. Eur J Cancer. 2017;84:290-303 pubmed publisher
    ..This breakthrough represents a turning point in the management of these hypermutated tumours and paves the way for broader strategies in immunoprecision medicine. ..
  16. Takiyama A, Tanaka T, Yamamoto Y, Hata K, Ishihara S, Nozawa H, et al. Microsatellite Status of Primary Colorectal Cancer Predicts the Incidence of Postoperative Colorectal Neoplasms. Anticancer Res. 2017;37:5785-5790 pubmed
    ..Few studies have evaluated the risk of postoperative colorectal neoplasms stratified by the nature of primary colorectal cancer (CRC). In this study, we revealed it on the basis of the microsatellite (MS) status of primary CRC...
  17. Bourdais R, Rousseau B, Pujals A, Boussion H, Joly C, Guillemin A, et al. Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency. Crit Rev Oncol Hematol. 2017;113:242-248 pubmed publisher
    ..We also examine the evidence supporting the development of immune checkpoint inhibitors in this specific subgroup of CRC patients. ..
  18. Savio A, Bapat B. Modulation of transcription factor binding and epigenetic regulation of the MLH1 CpG island and shore by polymorphism rs1800734 in colorectal cancer. Epigenetics. 2017;12:441-448 pubmed publisher
    ..These results demonstrate the role of variant rs1800734 in altering transcription factor binding as well as epigenetics at regions beyond the MLH1 CpG island in which it is located. ..
  19. Yoo N, Park S, Lee S. Frameshift mutations of ubiquitination-related genes HERC2, HERC3, TRIP12, UBE2Q1 and UBE4B in gastric and colorectal carcinomas with microsatellite instability. Pathology. 2011;43:753-5 pubmed publisher
  20. Nagarajan N, Bertrand D, Hillmer A, Zang Z, Yao F, Jacques P, et al. Whole-genome reconstruction and mutational signatures in gastric cancer. Genome Biol. 2012;13:R115 pubmed publisher
    ..analysis of two gastric adenocarcinomas, one with chromosomal instability and the other with microsatellite instability. Integrative analysis and de novo assemblies revealed the architecture of a wild-type KRAS amplification,..
  21. Lech G, Slotwinski R, Krasnodebski I. The role of tumor markers and biomarkers in colorectal cancer. Neoplasma. 2014;61:1-8 pubmed
    ..Defining tumor phenotype - microsatellite instability (MSI) or microsatellite stability (MSS) and testing for the presence or absence of 18q chromosome ..
  22. Momen Heravi F, Masugi Y, Qian Z, Nishihara R, Liu L, Smith Warner S, et al. Tumor expression of calcium sensing receptor and colorectal cancer survival: Results from the nurses' health study and health professionals follow-up study. Int J Cancer. 2017;141:2471-2479 pubmed publisher
    ..We adjusted for potential confounders including tumor biomarkers such as microsatellite instability, CpG island methylator phenotype, LINE-1 methylation level, expressions of PTGS2, VDR and CTNNB1 and ..
  23. Russo M, Broach J, Sheldon K, Houser K, Liu D, Kesterson J, et al. Clonal evolution in paired endometrial intraepithelial neoplasia/atypical hyperplasia and endometrioid adenocarcinoma. Hum Pathol. 2017;67:69-77 pubmed publisher
    ..Cancer Genome Atlas subtype, with 3 classified as "copy number low endometrioid" and 3 classified as "microsatellite instability hypermutated...
  24. Samstein R, Chan T. Dissecting microsatellite instability in colorectal cancer: one size does not fit all. Genome Med. 2017;9:45 pubmed publisher
    b>Microsatellite instability (MSI) marks distinct subsets of tumors in many cancer types and is caused by mutations in genes required for mismatch repair...
  25. Coebergh van den Braak R, Sieuwerts A, Kandimalla R, Lalmahomed Z, Bril S, van Galen A, et al. High mRNA expression of splice variant SYK short correlates with hepatic disease progression in chemonaive lymph node negative colon cancer patients. PLoS ONE. 2017;12:e0185607 pubmed publisher
    ..LNN] and n = 80 patients with adjuvant treated lymph node positive [LNP] colon cancer) and related to microsatellite instability (MSI), known colorectal cancer mutations, and disease-free (DFS), hepatic metastasis-free (HFS) and ..
  26. Inamura K, Yamauchi M, Nishihara R, Lochhead P, Qian Z, Kuchiba A, et al. Tumor LINE-1 methylation level and microsatellite instability in relation to colorectal cancer prognosis. J Natl Cancer Inst. 2014;106: pubmed publisher
    Hypomethylation in long interspersed nucleotide element-1 (LINE-1) and high-degree microsatellite instability (MSI-high) in colorectal cancer (CRC) have been associated with inferior and superior survival, respectively; however, it ..
  27. Ng K, Schrag D. Microsatellite instability and adjuvant fluorouracil chemotherapy: a mismatch?. J Clin Oncol. 2010;28:3207-10 pubmed publisher
  28. Bartley A, Hamilton S, Alsabeh R, Ambinder E, Berman M, COLLINS E, et al. Template for reporting results of biomarker testing of specimens from patients with carcinoma of the colon and rectum. Arch Pathol Lab Med. 2014;138:166-70 pubmed publisher
  29. Aissi S, Buisine M, Zerimech F, Kourda N, Moussa A, Manai M, et al. KRAS mutations in colorectal cancer from Tunisia: relationships with clinicopathologic variables and data on TP53 mutations and microsatellite instability. Mol Biol Rep. 2013;40:6107-12 pubmed
    ..familial and clinicopathologic variables and data on TP53 mutations and nuclear protein accumulation and microsatellite instability (MSI). A KRAS somatic mutation has been detected in the CRC tumor of 31.5 % (16/51) of the patients. 81...
  30. Kondelin J, Gylfe A, Lundgren S, Tanskanen T, Hamberg J, Aavikko M, et al. Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer. Cancer Res. 2017;77:4078-4088 pubmed publisher
    Approximately 15% of colorectal cancers exhibit microsatellite instability (MSI), which leads to accumulation of large numbers of small insertions and deletions (indels)...
  31. Maruvka Y, Mouw K, Karlic R, Parasuraman P, Kamburov A, Polak P, et al. Analysis of somatic microsatellite indels identifies driver events in human tumors. Nat Biotechnol. 2017;35:951-959 pubmed publisher
    ..number and pattern of MS indels can accurately distinguish microsatellite-stable tumors from tumors with microsatellite instability, thus potentially improving classification of clinically relevant subgroups...
  32. Hua X, Phipps A, Burnett Hartman A, Adams S, Hardikar S, Cohen S, et al. Timing of Aspirin and Other Nonsteroidal Anti-Inflammatory Drug Use Among Patients With Colorectal Cancer in Relation to Tumor Markers and Survival. J Clin Oncol. 2017;35:2806-2813 pubmed publisher
    ..BRAF- and KRAS-mutation status, microsatellite instability, and CpG island methylator phenotype were also evaluated...
  33. Teply B, Antonarakis E. Treatment strategies for DNA repair-deficient prostate cancer. Expert Rev Clin Pharmacol. 2017;10:889-898 pubmed publisher
    ..In addition, tumors with mismatch repair defects (i.e. microsatellite instability) may be particularly susceptible to checkpoint blockade immunotherapy...
  34. Forsström L, Sumi K, Mäkinen M, Oh J, Herva R, Kleihues P, et al. Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas. J Neuropathol Exp Neurol. 2017;76:848-853 pubmed publisher
    ..1403G>A; p.Arg468His]. Our results indicate that both glioblastomas had 2 hits in the MSH6 gene, and that loss of MSH6 function was the key event in the pathogenesis of these 2 independent primary glioblastomas. ..
  35. Fricke F, Lee J, Michalak M, Warnken U, Hausser I, Suarez Carmona M, et al. TGFBR2-dependent alterations of exosomal cargo and functions in DNA mismatch repair-deficient HCT116 colorectal cancer cells. Cell Commun Signal. 2017;15:14 pubmed publisher
    ..Fricke et al. uncovered coding microsatellite instability-associated mutations of colorectal tumor driver genes like TGFBR2 in MSI tumor cellderived exosomes...
  36. Kim Y, Kim S, Yoo N, Lee S. Frameshift mutation of SIRT1 gene in gastric and colorectal carcinomas with microsatellite instability. APMIS. 2010;118:81-2 pubmed publisher
  37. Ruiz J, Alvarez Cubero M, Rosado F, Espín E, Bernal C. Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome. Int J Colorectal Dis. 2014;29:1019-20 pubmed publisher
  38. Cosgrove C, Cohn D, Hampel H, Frankel W, Jones D, McElroy J, et al. Epigenetic silencing of MLH1 in endometrial cancers is associated with larger tumor volume, increased rate of lymph node positivity and reduced recurrence-free survival. Gynecol Oncol. 2017;146:588-595 pubmed publisher
    ..MMR immunohistochemistry (IHC)±microsatellite instability (MSI) testing and reflex MLH1 methylation testing was performed...
  39. Miyauchi T, Yaguchi T, Kawakami Y. Inter-patient and Intra-tumor Heterogeneity in the Sensitivity to Tumor-targeted Immunity in Colorectal Cancer. Nihon Rinsho Meneki Gakkai Kaishi. 2017;40:54-59 pubmed publisher
    ..Besides the microsatellite status, inter-patient heterogeneity in response to tumor immunity includes hypermutator phenotype, which is driven by POLE mutation, intrinsic cytokine production, and microbiota in the gut...
  40. Choi M, Gwak M, Yoo N, Lee S. Inactivating frameshift mutation of AKT1S1, an mTOR inhibitory gene, in colorectal cancers. Scand J Gastroenterol. 2015;50:503-4 pubmed publisher
  41. Chen W, Swanson B, Frankel W. Molecular genetics of microsatellite-unstable colorectal cancer for pathologists. Diagn Pathol. 2017;12:24 pubmed publisher
    ..mutation in an MMR gene (Lynch syndrome, LS) are the two most common mechanisms in the pathogenesis of microsatellite instability in CRC...
  42. Ramos M, Pereira M, Dias A, Faraj S, Zilberstein B, Cecconello I, et al. Lymphoepithelioma-like gastric carcinoma: clinicopathological characteristics and infection status. J Surg Res. 2017;210:159-168 pubmed publisher
    ..LLGC may be associated with latent Epstein-Barr virus (EBV) infection or microsatellite instability (MSI)...
  43. Moris D, Pawlik T. Personalized treatment in patients with colorectal liver metastases. J Surg Res. 2017;216:26-29 pubmed publisher
    ..resection of CRLM scoring systems have been developed by combining certain preoperative factors such as microsatellite instability KRAS expression and sensitivity to immunotherapy with Programmed Death-1 inhibitor...
  44. An C, Kim S, Kang M, Kim Y, Kim H, Yoo N, et al. Frameshift mutations of ATBF1, WNT9A, CYLD and PARK2 in gastric and colorectal carcinomas with high microsatellite instability. Pathology. 2010;42:583-5 pubmed publisher
  45. Carozzi F, Bisanzi S, Carrozzi L, Falaschi F, Lopes Pegna A, Mascalchi M, et al. Multimodal lung cancer screening using the ITALUNG biomarker panel and low dose computed tomography. Results of the ITALUNG biomarker study. Int J Cancer. 2017;141:94-101 pubmed publisher
    ..and sputum were analyzed for plasma DNA quantification (cut off 5 ng/ml), loss of heterozygosity and microsatellite instability. The ITALUNG biomarker panel (IBP) was considered positive if at least one of the two biomarkers ..
  46. Coelho H, Jones Hughes T, Snowsill T, Briscoe S, Huxley N, Frayling I, et al. A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome. BMC Cancer. 2017;17:836 pubmed publisher
    ..review was conducted to assess the diagnostic test accuracy of polymerase chain reaction (PCR)-based microsatellite instability (MSI) testing for identifying Lynch syndrome in patients with colorectal cancer (CRC)...
  47. Huo X, Xiao X, Zhang S, Zhou D, Chen Z. Association of Intron Microsatellite Instability and Exon Mutational Profile of TP53 in Human Gastric Cancers. Anticancer Res. 2017;37:4507-4514 pubmed
    b>Microsatellite instability (MSI) is a hallmark of genomic instability. In gastric cancer (GC), MSI phenotype is an important molecular subgroup that is often closely correlated with elevated mutation rates on the whole genome level...
  48. Ward T, McHugh P, Durant S. Small molecule inhibitors uncover synthetic genetic interactions of human flap endonuclease 1 (FEN1) with DNA damage response genes. PLoS ONE. 2017;12:e0179278 pubmed publisher
    ..High-throughput screens of human cancer cell-lines identify colorectal and gastric cell-lines with microsatellite instability (MSI) as enriched for cellular sensitivity to N-hydroxyurea series inhibitors of FEN1, but not the PARP ..
  49. Collura A, Lagrange A, Svrcek M, Marisa L, Buhard O, Guilloux A, et al. Patients with colorectal tumors with microsatellite instability and large deletions in HSP110 T17 have improved response to 5-fluorouracil–based chemotherapy. Gastroenterology. 2014;146:401-11.e1 pubmed
    Patients with colorectal tumors with microsatellite instability (MSI) have better prognoses than patients with tumors without MSI, but have a poor response to 5-fluorouracil–based chemotherapy...
  50. Sudoyo A. A biomarker for metastatic colorectal cancer and treatment goals. Acta Med Indones. 2014;46:81-2 pubmed
  51. Arnold A, Kloor M, Jansen L, Chang Claude J, Brenner H, von Winterfeld M, et al. The association between microsatellite instability and lymph node count in colorectal cancer. Virchows Arch. 2017;471:57-64 pubmed publisher
    ..resection and the quality of pathological lymph node examination, non-modifiable tumour parameters like microsatellite instability (MSI) are associated with higher lymph node count...
  52. Nielsen S, Stein A, Dinitzen A, Papaleo E, Tatham M, Poulsen E, et al. Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. PLoS Genet. 2017;13:e1006739 pubmed publisher
    ..Thus, in conclusion, in silico biophysical modeling should be considered for making genotype-phenotype predictions and for diagnosis of Lynch syndrome, and perhaps other hereditary diseases. ..
  53. Shuwen H, Xi Y, Yuefen P. Can Mitochondria DNA Provide a Novel Biomarker for Evaluating the Risk and Prognosis of Colorectal Cancer?. Dis Markers. 2017;2017:5189803 pubmed publisher
    ..four aspects including mtDNA copy number, mitochondrial displacement loop, mtDNA variation, and mtDNA microsatellite instability, wishing the summary of the mtDNA in colorectal cancer could provide a meaningful reference or a ..