TumorsHigh-microsatellite instabilityRepeatsMutationsLociImmunohistochemistryDMMRShow microsatellite instabilityStablePolymerase chain reNeoplasmsMarkersHumansCancersChromosomal instabilityTumoursEndometrial cancerNovel microsatelliteImmunohistochemicalMutationGenesHNPCCClinicopathologic characteristicsHereditarySequencesBiomarkerTumor samplesMLH1Loss of heterozygosPatientsTumourPrognosisSequencingMSH6StatusImmunotherapyFingerprintLocally advancedClinicalGastric carcinoma
Tumors17
- In May, 2017, the FDA granted accelerated approval for the use of Keytruda for treatment of patients with unresectable or metastatic solid tumors having either microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) biomarkers. (cms.gov)
- We examined 117 gastric carcinomas for MSI and observed instability at one or more loci in 19 (16%) of these tumors. (elsevierpure.com)
- Moreover, all eight of the tumors with MSI-H also showed instability at BAT-26, whereas none of the MSI- L tumors or tumors without instability showed instability at BAT-26. (elsevierpure.com)
- Significant differences in clinicopathologic characteristics and long-term prognoses were observed among patients with microsatellite-stable tumors, tumors having instability at 2 to 4 markers, and tumors having instability at all 5 markers (MSI/5). (univr.it)
- Reports have suggested that these associations may differ by tumor molecular subtype, with stronger associations for microsatellite unstable (MSI-H) tumors. (pedigree.org.au)
- Colonic and endometrial tumors from HNPCC patients exhibit microsatellite instability (MSI), as do sebaceous lesions in MTS. (ox.ac.uk)
- We recruited individuals from cancer prone families to determine if MSI is found in benign and malignant skin lesions and to assess whether MSI in the skin is predictive of genomic instability with susceptibility to tumors characteristic of HNPCC. (ox.ac.uk)
- Mutator phenotypes with microsatellite instability (MSI) are observed in a subset of solid tumors including those localized in the brain. (nel.edu)
- The development of programmed cell death-1 inhibitor (PD-1) has shed light on the treatment of tumors with deficiencies in DNA mismatch repair system or microsatellite instability (dMMR/MSI). (biomedcentral.com)
- Besides, patients in instability-high group had significant longer progression-free survival (log-rank test, P = 0.004), and a significant increase in T lymphocyte infiltration and cytolytic activity in tumors. (biomedcentral.com)
- Future study might implement the intensity of microsatellite instability for more delicate selection for anti-PD-1 therapy in patient with dMMR/MSI-H tumors. (biomedcentral.com)
- Patients with tumors demonstrating no instability loci (microsatellite stable, MSS) were excluded, except for those whose tumor was proved to be dMMR. (biomedcentral.com)
- Furthermore two tumors were highly microsatellite-instable (MSI-high), in one case associated to Lynch-syndrome. (biomedcentral.com)
- Results: Among the 97 urothelial tumors, 86 (88.7%) showed immunohistochemical MMR loss and 68 were successfully analyzed by the Promega MSI assay, of which 48 (70.6%) were MSI-high and 20 (29.4%) were MSI-low/microsatellite stable. (lu.se)
- These tumors may show microsatellite instability and have mutations in PTEN , PIK3CA , KRAS , and CTNNB 1. (msdmanuals.com)
- It has been also hypothesized that mismatch repair-deficient/microsatellite-unstable tumors are more responsive to PD-L1 blockade. (medscape.com)
- In a phase II study of pembrolizumab in patients with microsatellite-high (MSI-H) solid tumors, the objective response rate was 39.6% (95% CI = 31.7% to 47.9%), including 7.4% complete responses (CRs) and 32.2% partial responses (PRs). (medscape.com)
High-microsatellite instability4
- To clarify the relationship between chromosomal abnormalities and mismatch repair gene defects in colorectal carcinomas, we performed a chromosomal analysis on 39 colorectal carcinomas with high-microsatellite instability (MSI-H) and compared the results obtained with those of 20 right-sided microsatellite-stable (MSS) colorectal carcinomas. (elsevierpure.com)
- Both DAB2 and DAB2IP have mononucleotide repeats in their coding sequence that could be mutation targets in high microsatellite instability (MSI-H) cancers. (nih.gov)
- The inconsistent number of repeats is a biomarker for high microsatellite instability (MSI-H) and most likely dMMR. (ccalliance.org)
- Over 90% of all colorectal cancers in HNPCC patients demonstrate a high microsatellite instability (MSI-H), which means at least 2 or more genes have been mutated in HNPCC families or atypical HNPCC families. (medscape.com)
Repeats8
- Microsatellites are also known as simple sequence repeats (SSRs). (wikipedia.org)
- Microsatellite instability structure consists of repeated nucleotides, most often seen as GT/CA repeats. (wikipedia.org)
- Although researchers do not agree on a specific threshold for the number of tandem repeats that constitute a microsatellite, there is a consensus around their relative size. (wikipedia.org)
- Microsatellite instability (or MSI) is defined by the National Cancer Institute as a change that occurs in the DNA of certain cells, such as tumor cells, in which the number of repeats of microsatellites (short, repeated sequences of DNA) is different from the number of repeats that was in the DNA when it was inherited. (merck.com)
- The DNA is considered stable when the number of microsatellite repeats is the same in all the cells of the body, also referred to as microsatellite stable or MSS. (ccalliance.org)
- DNA mismatch repair (MMR) is a quality control and "spell checking" process that makes sure the DNA is copied without errors and that the number of microsatellite repeats remains the same in all the cells. (ccalliance.org)
- The tumor cells in these patients may end up with too many microsatellite DNA repeats compared with their healthy cells. (ccalliance.org)
- Defects in DNA mismatch repair (dMMR) promote a frequent insertion and/or deletion hypermutable state in nucleotide repeats regions termed microsatellite instability-high (MSI-H) [ 1 ]. (biomedcentral.com)
Mutations6
- MSI is the result of a malfunction in the DNA mismatch repair (MMR) system, which generates mutations in microsatellites. (idtdna.com)
- Microsatellite instability and mutations in BRAF and KRAS are significant predictors of disseminated disease in colon cancer. (scilifelab.se)
- This study aims to characterize colon cancer with regard to KRAS, BRAF, and PIK3CA mutations, microsatellite instability (MSI), and average DNA copy number, in connection with tumour dissemination and recurrence in patients with colon cancer. (scilifelab.se)
- DAB2 frameshift mutations were found in 2 of 79 CRCs (2.5%) with MSI-H. These mutations were not detected in microsatellite stable (MSS) cancers. (nih.gov)
- These mutations in the microsatellite instability enzymes may be detected by genetic studies on peripheral blood or through immunohistochemical analysis of a biopsy specimen. (medscape.com)
- In a study of 450 CRC diagnosed under 50 years via the Ohio Colorectal Cancer Prevention Initiative, germline DNA analysis for mutations in 25 cancer susceptibility genes was done in addition to assessing microsatellite instability and/or immunohistochemistry for MMR deficiency. (cdc.gov)
Loci2
- 3-4 To validate MSI testing via NGS, Caris evaluated more than 7,000 target microsatellite loci and compared the results from PCR for 2,189 cases across 26 different tumor types. (carislifesciences.com)
- Our data indicated that objective response rate (ORR) in instability-high group (instability loci ≥ 3) was significantly higher than ORR in instability-intermediate group (13/16 versus 6/17, P = 0.008). (biomedcentral.com)
Immunohistochemistry7
- We have 3153 products for the study of Low-frequency Microsatellite Instability that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits. (novusbio.com)
- Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. (carislifesciences.com)
- We proposed to evaluate MSI by molecular and immunohistochemistry (IHC) methods, to compare both methodologies and also to assess the inclusion of a novel microsatellite marker, HSP110 (T17). (oncotarget.com)
- A retrospective study of consistency between immunohistochemistry and polymerase chain reaction of microsatellite instability in endometrial cancer. (bvsalud.org)
- Forty-four resected gastric cancers including 7 EBV+, 16 MSI, and 21 microsatellite stable cancers without EBV (EBV-/MSS) were studied for PD-L1 expression and T-cell subpopulations by immunohistochemistry. (johnshopkins.edu)
- Both MMR protein immunohistochemistry and microsatellite instability (MSI) analysis can be used. (lu.se)
- A recent study compared the performance of tumor next-generation sequencing to the current multistep approach (using microsatellite instability (MSI) testing and/or immunohistochemistry (IHC) for MMR proteins). (cdc.gov)
DMMR3
- Background Immune checkpoint inhibitors (ICIs) are highly effective in patients with microsatellite instability/mismatch repair-deficient (MSI/dMMR) metastatic colorectal cancer (mCRC). (bmj.com)
- In the current study, we aimed to evaluate whether the degree of microsatellite instability can predict the diversity of responses to anti-PD-1 immunotherapy in dMMR/MSI-H colorectal cancers. (biomedcentral.com)
- Identification of endometrial cancers (EC) with mismatch repair deficiency (dMMR) or microsatellite instability -high (MSI-H) is essential for Lynch syndrome screening and treatment stratification. (bvsalud.org)
Show microsatellite instability1
- Tumours show microsatellite instability (MSI), also reported at low levels in non-neoplastic tissues. (kocaeli.edu.tr)
Stable3
- All tumours demonstrated stable microsatellites at five of the six microsatellite markers tested (BAT26, BAT40, APC, D2S123 and Mfd15CA). (shu.ac.uk)
- Although molecularly distinct entities arising from different physiopathogenic mechanisms - microsatellite (MSI) and chromosomal instability (also called microsatellite stable, MSS) - have been characterized in CRC, there is still no specific therapeutic approach that takes into account disease's molecular heterogeneity [ 1 ]. (oncotarget.com)
- This microsatellite DNA serves as a biomarker for how stable our DNA is. (ccalliance.org)
Polymerase chain re2
- Polymerase chain reaction-based assays can reveal these novel microsatellites and provide evidence for the presence of MSI. (wikipedia.org)
- To investigate the prevalence of MSI in uveal melanomas, 52 tumours were analysed by polymerase chain reaction amplification of a panel of microsatellite markers selected for their ability to detect tumours exhibiting defects in DNA mismatch repair mechanisms. (shu.ac.uk)
Neoplasms1
- Research of Low-frequency Microsatellite Instability has been linked to Microsatellite Instability, High-frequency Microsatellite Instability, Malignant Neoplasms, Neoplasms, Colorectal Cancer. (novusbio.com)
Markers5
- Microsatellite instability (MSI) as genomic markers inendometrial cancer: toward scientific evidences. (edu.pl)
- Conclusion: a complete panel of ten markers including four dinucleotide and six mononucleotide microsatellites allows accurate evaluation of tumor MSI status. (unipd.it)
- We employed, for the first time in this setting, real-time PCR with melting curve analysis in order to identify loss of heterozygosity (LOH) or microsatellite instability (MI) in two polymorphic markers (PYGM, D11S449) at the MEN1 locus and one additional marker (D11S906) of a putative oncosuppressive region distal to the MEN1 gene. (edgehill.ac.uk)
- Additionally, mismatch-repair-deficiency was analyzed by checking the microsatellite status using the five different mononucleotide markers BAT25, BAT26, NR-21, NR-22 and NR-27 and loss of mismatch repair proteins using four different markers ( MLH1, MSH6, MSH2, PMS2 ). (biomedcentral.com)
- ABSTRACT This study aimed to identify the status of 2 major microsatellite instability markers (repair genes hMSH2 and hMSH6 ) in colorectal cancer cases operated at King Khalid University Hospital, Riyadh, Saudi Arabia between 2007 and 2009. (who.int)
Humans1
- The most common microsatellite in humans is a dinucleotide repeat of the nucleotides C and A, which occurs tens of thousands of times across the genome. (wikipedia.org)
Cancers4
- 2015). MMR results in a strong mutator phenotype known as microsatellite instability (MSI), which is a hallmark of Lynch syndrome-associated cancers (Yamamoto & Imai, 2015). (alliedacademies.org)
- Microsatellite instability (MSI) is an important factor in the development of various cancers as an identifier of a defective DNA mismatch repair system. (edu.pl)
- We hypothesized that gastric cancers associated with Epstein-Barr virus infection (EBV+) or microsatellite instability (MSI), both of which are known to harbor such tumor microenvironment, are associated with increased PD-L1 expression. (johnshopkins.edu)
- RÉSUMÉ La présente étude visait à identifier le statut de deux marqueurs principaux de l'instabilité des microsatellites (gènes de réparation hMSH2 et hMSH6 ) dans des cas de cancers colorectaux opérés à l'hôpital universitaire King Khalid de Riyad (Arabie saoudite) entre 2007 et 2009. (who.int)
Chromosomal instability1
- Recent molecular genetic studies have revealed that two major types of genomic instabilities, chromosomal instability and microsatellite instability, exist in the colorectal carcinomas. (elsevierpure.com)
Tumours1
- Microsatellite instability (MSI) is a distinct tumour phenotype that is associated with alterations of DNA mismatch repair and is being increasingly reported in a number of hereditary and sporadic tumours. (shu.ac.uk)
Endometrial cancer2
- We present patient-reported outcome measures collected from patients with mismatch repair-deficient/microsatellite instability-high advanced or recurrent endometrial cancer treated with dostarlimab, an anti-PD-1 monoclonal antibody, in an expansion cohort of the GARNET trial. (bmj.com)
- Patients with advanced or recurrent mismatch repair-deficient/microsatellite instability-high endometrial cancer were treated with 500 mg of intravenous dostarlimab once every 3 weeks for four cycles, then 1000 mg of intravenous dostarlimab every 6 weeks. (bmj.com)
Novel microsatellite1
- This causes the creation of novel microsatellite fragments. (wikipedia.org)
Immunohistochemical1
- Immunohistochemical study of microsatellite instability was done with antibodies to hMSH2 and hMSH6 . (who.int)
Mutation3
- Microsatellite instability (MSI) is the condition of genetic hypermutability (predisposition to mutation) that results from impaired DNA mismatch repair (MMR). (wikipedia.org)
- MSI occurs when a short sequence of DNA that is repeated (a microsatellite or short tandem repeat) undergoes a mutation when it is copied [1] . (idtdna.com)
- High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers. (kocaeli.edu.tr)
Genes1
- Abstract Tumour microsatellite instability (MSI) is useful in identifying patients with hereditary non-polyposis colorectal cancer (HNPCC) with defective DNA mismatch repair (MMR) genes. (unipd.it)
HNPCC1
- DNA mismatch repair (MMR) is essential in the surveillance of accurate transmission of genetic information, and defects in this pathway lead to microsatellite instability and hereditary non-polyposis colorectal cancer (HNPCC). (elsevierpure.com)
Clinicopathologic characteristics1
- The objective of our study was to define the association between microsatellite instability status and traditional clinicopathologic characteristics of endometrioid type adenocarcinoma. (edu.pl)
Hereditary1
Sequences4
- Microsatellites are repeated sequences of DNA. (wikipedia.org)
- While all researchers agree that microsatellites are repeat sequences, the lengths of the sequences remain in question. (wikipedia.org)
- 9] Ellegren H. Microsatellites: simple sequences with complexevolution. (edu.pl)
- The DNA in our cells also contains segments of short repetitive DNA sequences called microsatellites. (ccalliance.org)
Biomarker2
- Another predictive cancer biomarker is microsatellite instability (MSI). (idtdna.com)
- Microsatellite instability (MSI) is a genetic pathway leading to CRC, associated with particular clinicopathological features, and recently a major biomarker of immunotherapy response. (oncotarget.com)
Tumor samples1
- No microsatellite instability was detected in the tumor samples thus implying the lack of any clinical usefulness of MSI testing in PA cases. (nel.edu)
MLH11
- These pathways complement our catalog of research reagents for the study of Low-frequency Microsatellite Instability including antibodies and ELISA kits against MLH1, SIL1, MSH2, MSI, MSH6. (novusbio.com)
Loss of heterozygos1
- In this study, 8 of 42 patients with esophageal cancer had microsatellite instability (MSI), and 29 cases demonstrated allelic loss (loss of heterozygosity or homozygous deletion) at the FHIT/FRA3B locus. (elsevierpure.com)
Patients3
- Microsatellite instability could not predict a histopathological response to neoadjuvant radiotherapy, but was a good prognostic marker for patients without lymph node metastasis after neoadjuvant radiotherapy. (nih.gov)
- As shown in Table 2 , we found that three patients identified as d-MMR but with microsatellite stability (MSS) disease had no response to anti-PD-1 treatment. (biomedcentral.com)
- Although promising, no immunotherapy drugs have been approved by the FDA to treat gastrointestinal malignancies outside of the recent approval of pembrolizumab for the treatment of patients with colon cancer with microsatellite instability (MSI). (medscape.com)
Tumour1
- Microsatellite instability was not associated statistically with pathological stage, radiation-induced tumour regression or downstaging. (nih.gov)
Prognosis2
- Dual-layer spectral-detector CT for predicting microsatellite instability status and prognosis in locally advanced gastric cancer. (qxmd.com)
- To construct and validate a prediction model based on dual-layer detector spectral CT (DLCT) and clinico-radiologic features to predict the microsatellite instability (MSI) status of gastric cancer (GC) and to explore the relationship between the prediction results and patient prognosis. (qxmd.com)
Sequencing1
- Caris molecular profiling includes microsatellite instability (MSI) testing via next-generation sequencing (NGS). (carislifesciences.com)
MSH61
- If both PMS-2 and MSH6 are preserved, however, that strongly indicates the patient does not have microsatellite instability. (medscape.com)
Status1
- Genetics the status of 2 major microsatellite in- Diamino benzidine was used as a chro- may play a role in up to 30% of cases [3]. (who.int)
Immunotherapy1
- In this study, we aimed to investigate the relationship between the degree of microsatellite instability and the responses to anti-PD-1 immunotherapy. (biomedcentral.com)
Fingerprint1
- Although the length of microsatellites can vary from person to person and contributes to the individual DNA "fingerprint", each individual has microsatellites of a set length. (wikipedia.org)
Locally advanced1
- This study was conducted to investigate the clinicopathological significance and prognostic value of microsatellite instability (MSI) in locally advanced rectal cancer (LARC) following neoadjuvant radiotherapy. (nih.gov)
Clinical2
- 2010. Clinical relevance of microsatellite instability in colorectal cancer. (carislifesciences.com)
- 4] Basil JB, Goodfellow PJ, Rader JS, Mutch DG, Herzog TJ.Clinical significance of microsatellite instability in endometrialcarcinoma. (edu.pl)
Gastric carcinoma1
- Microsatellite instability (MSI) is observed in 13-44% of gastric carcinoma. (elsevierpure.com)