Relevance, pathogenesis, and testing algorithm for mismatch repair-defective colorectal carcinomas: a report of the association for molecular pathology.
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S. Ogino | W. Funkhouser | B. Zehnbauer | F. Monzon | J. Nowak | I. Lubin | J. Evans
[1] C. Boland,et al. Strategies to Identify the Lynch Syndrome Among Patients With Colorectal Cancer , 2011, Annals of Internal Medicine.
[2] Laetitia Huiart,et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. , 2011, JAMA.
[3] J. Hopper,et al. Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry. , 2011, The Journal of molecular diagnostics : JMD.
[4] Vikas Bansal,et al. Efficient and Cost Effective Population Resequencing by Pooling and In-Solution Hybridization , 2011, PloS one.
[5] C. Huttenhower,et al. Novel application of structural equation modeling to correlation structure analysis of CpG island methylation in colorectal cancer. , 2010, The American journal of pathology.
[6] 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.
[7] C. Ulrich,et al. Case-control study of overweight, obesity, and colorectal cancer risk, overall and by tumor microsatellite instability status. , 2010, Journal of the National Cancer Institute.
[8] R. Palmqvist,et al. The Role of the CpG Island Methylator Phenotype in Colorectal Cancer Prognosis Depends on Microsatellite Instability Screening Status , 2010, Clinical Cancer Research.
[9] F. Sinicrope. DNA mismatch repair and adjuvant chemotherapy in sporadic colon cancer , 2010, Nature Reviews Clinical Oncology.
[10] Heather Hampel,et al. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer , 2010, Genetics in Medicine.
[11] P. Laird,et al. Analysis of the Association between CIMP and BRAFV600E in Colorectal Cancer by DNA Methylation Profiling , 2009, PloS one.
[12] N. Cho,et al. Prognostic implications of CpG island hypermethylator phenotype in colorectal cancers , 2009, Virchows Archiv.
[13] 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.
[14] Jukka-Pekka Mecklin,et al. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[15] H. Hollema,et al. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome , 2009, Genes, chromosomes & cancer.
[16] P. A. van den Brandt,et al. MGMT and MLH1 promoter methylation versus APC, KRAS and BRAF gene mutations in colorectal cancer: indications for distinct pathways and sequence of events. , 2009, Annals of oncology : official journal of the European Society for Medical Oncology.
[17] M. Gulley,et al. CpG methylation analysis--current status of clinical assays and potential applications in molecular diagnostics: a report of the Association for Molecular Pathology. , 2009, The Journal of molecular diagnostics : JMD.
[18] Shuji Ogino,et al. DNMT3B Expression Might Contribute to CpG Island Methylator Phenotype in Colorectal Cancer , 2009, Clinical Cancer Research.
[19] N. Matsubara,et al. Efficient molecular screening of Lynch syndrome by specific 3' promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability. , 2009, Oncology reports.
[20] O. Dominic,et al. American College of Gastroenterology Guidelines for Colorectal Cancer Screening 2008 , 2009, The American Journal of Gastroenterology.
[21] Douglas K Rex,et al. Corrigendum: American College of Gastroenterology Guidelines for Colorectal Cancer Screening 2008 , 2009, The American Journal of Gastroenterology.
[22] S. Gruber,et al. Pathologic Predictors of Microsatellite Instability in Colorectal Cancer , 2009, The American journal of surgical pathology.
[23] John Quackenbush,et al. Comprehensive Biostatistical Analysis of CpG Island Methylator Phenotype in Colorectal Cancer Using a Large Population-Based Sample , 2008, PloS one.
[24] J. Jiricny,et al. Mechanisms of pathogenicity in human MSH2 missense mutants , 2008, Human mutation.
[25] P. Laurent-Puig,et al. Hypermethylator phenotype in sporadic colon cancer: study on a population-based series of 582 cases. , 2008, Cancer research.
[26] Shuji Ogino,et al. CpG island methylator phenotype, microsatellite instability, BRAF mutation and clinical outcome in colon cancer , 2008, Gut.
[27] Robert Brown,et al. CpG island methylator phenotype (CIMP) in cancer: causes and implications. , 2008, Cancer letters.
[28] E. Steyerberg,et al. Phenotype Comparison of MLH1 and MSH2 Mutation Carriers in a Cohort of 1,914 Individuals Undergoing Clinical Genetic Testing in the United States , 2008, Cancer Epidemiology Biomarkers & Prevention.
[29] 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.
[30] M. Ebert,et al. Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC , 2008, European Journal of Human Genetics.
[31] D. English,et al. Ethnicity and Risk for Colorectal Cancers Showing Somatic BRAF V600E Mutation or CpG Island Methylator Phenotype , 2008, Cancer Epidemiology Biomarkers & Prevention.
[32] 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.
[33] D. Evans,et al. Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations , 2008, Clinical genetics.
[34] M. Kloor,et al. Immune response against frameshift-induced neopeptides in HNPCC patients and healthy HNPCC mutation carriers. , 2008, Gastroenterology.
[35] M. Nilbert,et al. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers. , 2008, American journal of clinical pathology.
[36] B. Bellosillo,et al. A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening. , 2008, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[37] N. Cho,et al. Clinicopathological features of CpG island methylator phenotype‐positive colorectal cancer and its adverse prognosis in relation to KRAS/BRAF mutation , 2008, Pathology international.
[38] P. Propping,et al. Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome , 2008, The Journal of pathology.
[39] R. Jaenisch,et al. Dnmt3b promotes tumorigenesis in vivo by gene-specific de novo methylation and transcriptional silencing. , 2007, Genes & development.
[40] John D Potter,et al. Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. , 2007, Gastroenterology.
[41] M. Loda,et al. Evaluation of markers for CpG island methylator phenotype (CIMP) in colorectal cancer by a large population-based sample. , 2007, The Journal of molecular diagnostics : JMD.
[42] L. Aaltonen,et al. No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer , 2007, Oncogene.
[43] P. Møller,et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) , 2007, Journal of Medical Genetics.
[44] J. Jass. Classification of colorectal cancer based on correlation of clinical, morphological and molecular features , 2007, Histopathology.
[45] M. O'brien,et al. Comparison of Microsatellite Instability, CpG Island Methylation Phenotype, BRAF and KRAS Status in Serrated Polyps and Traditional Adenomas Indicates Separate Pathways to Distinct Colorectal Carcinoma End Points , 2006, The American journal of surgical pathology.
[46] G. Petersen,et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. , 2006, JAMA.
[47] A. Cats,et al. What is the appropriate screening protocol in Lynch syndrome? , 2006, Familial Cancer.
[48] P. Laird,et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer , 2006, Nature Genetics.
[49] Harry Campbell,et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. , 2006, The New England journal of medicine.
[50] R. Gafà,et al. Immunohistochemical test for MLH1 and MSH2 expression predicts clinical outcome in stage II and III colorectal cancer patients. , 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[51] W. Foulkes,et al. Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis , 2006, Gut.
[52] R. Gafà,et al. Microsatellite Instability and Colorectal Cancer Prognosis , 2005, Clinical Cancer Research.
[53] J. Cubiella,et al. Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer , 2005, Gut.
[54] A. Krasinskas,et al. Performance of the revised Bethesda guidelines for identification of colorectal carcinomas with a high level of microsatellite instability. , 2005, Archives of pathology & laboratory medicine.
[55] John L Hopper,et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[56] R. Wolff,et al. Evaluation of a large, population-based sample supports a CpG island methylator phenotype in colon cancer. , 2005, Gastroenterology.
[57] J. Jass. Serrated adenoma of the colorectum and the DNA-methylator phenotype , 2005, Nature Clinical Practice Oncology.
[58] R. Wolff,et al. Poor survival associated with the BRAF V600E mutation in microsatellite-stable colon cancers. , 2005, Cancer research.
[59] Hiroyuki Yamamoto,et al. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes , 2005, Oncogene.
[60] W. Frankel,et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). , 2005, The New England journal of medicine.
[61] M. Andreu,et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. , 2005, JAMA.
[62] R. Houlston,et al. Systematic review of microsatellite instability and colorectal cancer prognosis. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[63] L. Aaltonen,et al. Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status. , 2004, Human molecular genetics.
[64] L. Aaltonen,et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing , 2004, Journal of Medical Genetics.
[65] N. Matsubara,et al. BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum , 2004, Gut.
[66] H. Morreau,et al. Survival after adjuvant 5‐FU treatment for stage III colon cancer in hereditary nonpolyposis colorectal cancer , 2004, International journal of cancer.
[67] Sudhir Srivastava,et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. , 2004, Journal of the National Cancer Institute.
[68] C. Behling,et al. Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer. , 2004, Gastroenterology.
[69] Y. Yamashita,et al. Mutations of BRAF are associated with extensive hMLH1 promoter methylation in sporadic colorectal carcinomas , 2004, International journal of cancer.
[70] G. Deng,et al. BRAF Mutation Is Frequently Present in Sporadic Colorectal Cancer with Methylated hMLH1, But Not in Hereditary Nonpolyposis Colorectal Cancer , 2004, Clinical Cancer Research.
[71] G. Taylor,et al. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non‐polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA , 2003, Human mutation.
[72] Daniel J Sargent,et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. , 2003, The New England journal of medicine.
[73] Yan P. Yuan,et al. Pathogenesis of DNA repair-deficient cancers: a statistical meta-analysis of putative Real Common Target genes , 2003, Oncogene.
[74] C. Compton,et al. Characterization of sporadic colon cancer by patterns of genomic instability. , 2003, Cancer research.
[75] K. Kinzler,et al. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status , 2002, Nature.
[76] B. Leggett,et al. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. , 2001, The American journal of pathology.
[77] W. Zoller,et al. [Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer]. , 2001, Zeitschrift fur Gastroenterologie.
[78] D. Schaid,et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. , 2001, American journal of human genetics.
[79] M. Leppert,et al. Microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population level. , 2001, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
[80] L. Roncucci,et al. Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer , 2001, Genes, chromosomes & cancer.
[81] M. Southey,et al. Molecular Pathologic Analysis Enhances the Diagnosis and Management of Muir-Torre Syndrome and Gives Insight Into Its Underlying Molecular Pathogenesis , 2001, The American journal of surgical pathology.
[82] B. Leggett,et al. Prognostic significance of extensive microsatellite instability in sporadic clinicopathological stage C colorectal cancer , 2000, The British journal of surgery.
[83] B. Leggett,et al. DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer , 2000, Gut.
[84] L. Aaltonen,et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. , 2000, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[85] A. de la Chapelle,et al. Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. , 2000, The American journal of pathology.
[86] Carolyn Compton,et al. American Joint Committee on Cancer prognostic factors consensus conference , 2000, Cancer.
[87] S. Bull,et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. , 2000, The New England journal of medicine.
[88] D. Schaid,et al. Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers. , 1999, Journal of the National Cancer Institute.
[89] J. Herman,et al. CpG island methylator phenotype in colorectal cancer. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[90] H T Lynch,et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. , 1999, Gastroenterology.
[91] S. Baylin,et al. Identification of differentially methylated sequences in colorectal cancer by methylated CpG island amplification. , 1999, Cancer research.
[92] B. Leggett,et al. DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer? , 1999, Journal of clinical pathology.
[93] P. Møller,et al. MSH2 genomic deletions are a frequent cause of HNPCC , 1998, Nature Genetics.
[94] S N Thibodeau,et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. , 1998, Cancer research.
[95] T. Smyrk,et al. Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members , 1998, Cancer.
[96] J. Herman,et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[97] L. Aaltonen,et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. , 1998, The New England journal of medicine.
[98] R. Farber,et al. Microsatellite mutation rates in cancer cell lines deficient or proficient in mismatch repair , 1998, Oncogene.
[99] M. Ballegooijen,et al. A cost‐effectiveness analysis of colorectal screening for hereditary nonpolyposis colorectal carcinoma gene carriers , 1998, Cancer.
[100] D. Schaid,et al. Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. , 1998, Cancer research.
[101] J. P. Dunn. Colorectal cancer screening. , 1997, The New Zealand medical journal.
[102] J. Rüschoff,et al. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. , 1997, Cancer research.
[103] D. Shibata,et al. DNA mismatch repair in mammals: role in disease and meiosis. , 1997, Current opinion in genetics & development.
[104] S. Bülow,et al. Hereditary non-polyposis colorectal cancer: clinical features and survival. Results from the Danish HNPCC register. , 1997, Scandinavian journal of gastroenterology.
[105] M. Loda,et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. , 1997, Cancer research.
[106] S. Srivastava,et al. National Cancer Institute Workshop on Genetic Screening for Colorectal Cancer. , 1996, Journal of the National Cancer Institute.
[107] L. Aaltonen,et al. Better survival rates in patients with MLH1-associated hereditary colorectal cancer. , 1996, Gastroenterology.
[108] P. Karran,et al. Microsatellite instability and DNA mismatch repair in human cancer. , 1996, Seminars in cancer biology.
[109] L. Aaltonen,et al. Life‐time risk of different cancers in hereditary non‐polyposis colorectal cancer (hnpcc) syndrome , 1995, International journal of cancer.
[110] 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.
[111] K. Kinzler,et al. Clues to the pathogenesis of familial colorectal cancer. , 1993, Science.
[112] S N Thibodeau,et al. Microsatellite instability in cancer of the proximal colon. , 1993, Science.
[113] C. Boland,et al. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. , 1993, Gastroenterology.
[114] G. Thomas,et al. [Genetic predisposition to colorectal cancer]. , 1993, Annales de gastroenterologie et d'hepatologie.
[115] J. Mecklin,et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) , 1991, Diseases of the colon and rectum.
[116] L. Melton,et al. Predictors of survival after curative resection of carcinoma of the colon and rectum , 1987, Cancer.
[117] J. Stockman,et al. Strategies to Identify the Lynch Syndrome Among Patients With Colorectal Cancer: A Cost-Effectiveness Analysis , 2013 .
[118] L. Tanoue. Cancer Statistics, 2011: The Impact of Eliminating Socioeconomic and Racial Disparities on Premature Cancer Deaths , 2012 .
[119] D. Brizel,et al. National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology , 2012 .
[120] D. Snover. Update on the serrated pathway to colorectal carcinoma. , 2011, Human pathology.
[121] S. Woolf,et al. Aarnio M, Mecklin JP, Aaltonen LA, Nyström-Lahti M, Järvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 1995 64(6):430-3. PMID: 8550246 , 2011 .
[122] S. Gruber,et al. NCCN clinical practice guidelines in oncology. Colorectal cancer screening. , 2010, Journal of the National Comprehensive Cancer Network : JNCCN.
[123] Monica R McClain,et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome , 2009, Genetics in Medicine.
[124] M. Kloor,et al. Immune Response Against Frameshift-Induced Neopeptides in HNPCC Patients and Healthy HNPCC Mutation Carriers. Authors' reply , 2008 .
[125] S. Ogino,et al. Molecular classification and correlates in colorectal cancer. , 2008, The Journal of molecular diagnostics : JMD.
[126] Z. Gatalica,et al. Pathology of the hereditary colorectal carcinoma , 2007, Familial Cancer.
[127] M. Kloor,et al. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer , 2006, International journal of cancer.
[128] S. Thibodeau,et al. Use of Microsatellite Instability and Immunohistochemistry Testing for the Identification of Individuals at Risk for Lynch Syndrome , 2004, Familial Cancer.
[129] B. Leggett,et al. Promoter Hypermethylation Frequency and BRAF Mutations Distinguish Hereditary Non-Polyposis Colon Cancer from Sporadic MSI-H Colon Cancer , 2004, Familial Cancer.
[130] J. Kładny,et al. Value of pedigree/clinical data, immunohistochemistry and microsatellite instability analyses in reducing the cost of determining hMLH1 and hMSH2 gene mutations in patients with colorectal cancer. , 2000, European journal of cancer.
[131] J. Mecklin,et al. Prognosis of colorectal cancer varies in different high-risk conditions. , 1998, Annals of medicine.
[132] Peter Beighton,et al. de la Chapelle, A. , 1997 .
[133] R. Fitzgibbons,et al. Hereditary Colorectal Cancer , 1990, Springer Japan.
[134] N. Dubrawsky. Cancer statistics , 1989, CA: a cancer journal for clinicians.
[135] Jeffrey R. Botkin,et al. Summary of Recommendations: The Evaluation of Genomic Applications , 2022 .