Discordance between immunochemistry of mismatch repair proteins and molecular testing of microsatellite instability in colorectal cancer

[1]  A. Viari,et al.  Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients , 2020, European Journal of Human Genetics.

[2]  P. Gibbs,et al.  Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer. , 2020, The New England journal of medicine.

[3]  Joon-Oh Park,et al.  A Phase II Study of Avelumab Monotherapy in Patients with Mismatch Repair–Deficient/Microsatellite Instability–High or POLE-Mutated Metastatic or Unresectable Colorectal Cancer , 2020, Cancer research and treatment : official journal of Korean Cancer Association.

[4]  M. Rugge,et al.  Prediction of Benefit from Checkpoint Inhibitors in Mismatch Repair Deficient Metastatic Colorectal Cancer: Role of Tumor Infiltrating Lymphocytes. , 2020, The oncologist.

[5]  D. Jäger,et al.  Phase II Open-Label Study of Pembrolizumab in Treatment-Refractory, Microsatellite Instability–High/Mismatch Repair–Deficient Metastatic Colorectal Cancer: KEYNOTE-164 , 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[6]  Ahmet Zehir,et al.  Retained Mismatch Repair Protein Expression Occurs in Approximately 6% of Microsatellite Instability-High Cancers and is Associated with Missense Mutations in Mismatch Repair Genes. , 2019, Modern Pathology.

[7]  C. Toulas,et al.  Characterization of atypical dMMR (deficient MisMatch Repair) tumors: A study from a large cohort of 4948 cases , 2019, Annals of Oncology.

[8]  A. Scarpa,et al.  ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. , 2019, Annals of oncology : official journal of the European Society for Medical Oncology.

[9]  Aung Ko Win,et al.  Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database , 2019, Genetics in Medicine.

[10]  A. Duval,et al.  MSI/MMR-deficient tumor diagnosis: Which standard for screening and for diagnosis? Diagnostic modalities for the colon and other sites: Differences between tumors. , 2019, Bulletin du cancer.

[11]  Wei Chen,et al.  A practical guide to biomarkers for the evaluation of colorectal cancer , 2019, Modern Pathology.

[12]  A. Duval,et al.  Association of Primary Resistance to Immune Checkpoint Inhibitors in Metastatic Colorectal Cancer With Misdiagnosis of Microsatellite Instability or Mismatch Repair Deficiency Status , 2019, JAMA oncology.

[13]  J. Deleuze,et al.  Molecular and Computational Methods for the Detection of Microsatellite Instability in Cancer , 2018, Front. Oncol..

[14]  A. Duval,et al.  Assessment of local clinical practice for testing of mismatch repair deficiency in metastatic colorectal cancer: The need for new diagnostic guidelines prior to immunotherapy. , 2018, Annals of oncology : official journal of the European Society for Medical Oncology.

[15]  J. Lai,et al.  Sigmoid Colon Adenocarcinoma with Isolated Loss of PMS2 Presenting in a Patient with Synchronous Prostate Cancer with Intact MMR: Diagnosis and Analysis of the Family Pedigree , 2018, AntiCancer Research.

[16]  W. Frankel,et al.  Two-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency , 2018, Modern Pathology.

[17]  Qing Wang,et al.  Heterogeneity of mismatch repair defect in colorectal cancer and its implications in clinical practice. , 2018, European journal of cancer.

[18]  M. Sawyer,et al.  Durable Clinical Benefit With Nivolumab Plus Ipilimumab in DNA Mismatch Repair-Deficient/Microsatellite Instability-High Metastatic Colorectal Cancer. , 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[19]  X. Qian,et al.  Comparison of microsatellite status detection methods in colorectal carcinoma. , 2018, International journal of clinical and experimental pathology.

[20]  I. Frayling,et al.  A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome , 2017, BMC Cancer.

[21]  J. Desai,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. , 2017, The Lancet. Oncology.

[22]  I. Frayling,et al.  Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation. , 2017, Health technology assessment.

[23]  Laëtitia Fazzalari.  Étude des discordances entre les analyses d’immunohistochimie et de biologie moléculaire à la recherche d’une instabilité microsatellitaire avec les analyses de génétique constitutionnelle dans le cadre du syndrome de Lynch , 2017 .

[24]  R. Eisenberg,et al.  Differences in Microsatellite Instability Profiles between Endometrioid and Colorectal Cancers: A Potential Cause for False-Negative Results? , 2017, The Journal of molecular diagnostics : JMD.

[25]  J. Taïeb,et al.  Efficacy of Adjuvant Chemotherapy in Colon Cancer With Microsatellite Instability: A Large Multicenter AGEO Study. , 2016, Journal of the National Cancer Institute.

[26]  Sheena M. Scroggins,et al.  MSIplus for Integrated Colorectal Cancer Molecular Testing by Next-Generation Sequencing. , 2015, The Journal of molecular diagnostics : JMD.

[27]  P. Laird,et al.  Clinicopathologic Risk Factor Distributions for MLH1 Promoter Region Methylation in CIMP-Positive Tumors , 2015, Cancer Epidemiology, Biomarkers & Prevention.

[28]  Bert Vogelstein,et al.  PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. , 2015, The New England journal of medicine.

[29]  Colin C Pritchard,et al.  Microsatellite instability detection by next generation sequencing. , 2014, Clinical chemistry.

[30]  Jia Li,et al.  Era of universal testing of microsatellite instability in colorectal cancer. , 2013, World journal of gastrointestinal oncology.

[31]  P. Chappuis,et al.  [Lynch syndrome: when pathologist and clinician have the opportunity to reduce the risk of developing cancer]. , 2011, Revue medicale suisse.

[32]  J. Lindebjerg,et al.  Interobserver variability in the evaluation of mismatch repair protein immunostaining. , 2010, Human Pathology.

[33]  R. Labianca,et al.  Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[34]  Ajay Goel,et al.  Microsatellite instability in colorectal cancer. , 2010, Gastroenterology.

[35]  C. Boland,et al.  An Optimized Pentaplex PCR for Detecting DNA Mismatch Repair-Deficient Colorectal Cancers , 2010, PloS one.

[36]  Laura H. Tang,et al.  Immunohistochemistry as First-line Screening for Detecting Colorectal Cancer Patients at Risk for Hereditary Nonpolyposis Colorectal Cancer Syndrome: A 2-antibody Panel May be as Predictive as a 4-antibody Panel , 2009, The American journal of surgical pathology.

[37]  T. Frebourg,et al.  Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations , 2009, Modern Pathology.

[38]  J. Potter,et al.  The Association of Tumor Microsatellite Instability Phenotype with Family History of Colorectal Cancer , 2009, Cancer Epidemiology Biomarkers & Prevention.

[39]  M. Ligtenberg,et al.  Interpretation of Immunohistochemistry for Mismatch Repair Proteins is Only Reliable in a Specialized Setting , 2008, The American journal of surgical pathology.

[40]  Liying Zhang.  Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing. , 2008, The Journal of molecular diagnostics : JMD.

[41]  J. Shia.  Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. , 2008, The Journal of molecular diagnostics : JMD.

[42]  B. Iacopetta,et al.  Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer. , 2007, The Journal of molecular diagnostics : JMD.

[43]  M. Gassull,et al.  Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. , 2007, Journal of the National Cancer Institute.

[44]  W. Frankel,et al.  Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. , 2006, Cancer research.

[45]  P. Peltomäki,et al.  Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database , 2004, Disease markers.

[46]  A. Duval,et al.  Quasimonomorphic Mononucleotide Repeats for High-Level Microsatellite Instability Analysis , 2004, Disease markers.

[47]  Sudhir Srivastava,et al.  Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. , 2004, Journal of the National Cancer Institute.

[48]  N. Russell,et al.  BAT‐25 and BAT‐26, two mononucleotide microsatellites, are not sensitive markers of microsatellite instability in acute myeloid leukaemia , 2004, British journal of haematology.

[49]  A. Duval,et al.  Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. , 2002, Gastroenterology.

[50]  J. Faivre,et al.  Microsatellite instability and intratumoural heterogeneity in 100 right-sided sporadic colon carcinomas , 2002, British Journal of Cancer.

[51]  Daniel J Sargent,et al.  Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. , 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[52]  C. Adebamowo,et al.  Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing. , 1999, The American journal of pathology.

[53]  S Srivastava,et al.  A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. , 1998, Cancer research.

[54]  L. Kasturi,et al.  Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[55]  B. Vogelstein,et al.  Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. , 1994, The American journal of pathology.