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Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
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Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
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PD-1 Blockade in Tumors with Mismatch-Repair Deficiency.
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Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
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Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
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Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
Arjen R Mensenkamp, Ingrid P Vogelaar, Wendy A G van Zelst-Stams, Monique Goossens, Hicham Ouchene, Sandra J B Hendriks-Cornelissen, Michael P Kwint, Nicoline Hoogerbrugge, Iris D Nagtegaal, Marjolijn J L Ligtenberg. Gastroenterology 2014
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Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
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Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
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Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
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Milestones of Lynch syndrome: 1895-2015.
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Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.
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Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
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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.
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Identification of Lynch syndrome among patients with colorectal cancer.
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Risk of cancer in cases of suspected lynch syndrome without germline mutation.
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
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Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry.
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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
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Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.
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Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.
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Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.
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The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC).
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Durable Clinical Benefit With Nivolumab Plus Ipilimumab in DNA Mismatch Repair-Deficient/Microsatellite Instability-High Metastatic Colorectal Cancer.
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Kory W Jasperson, Thérèse M Tuohy, Deborah W Neklason, Randall W Burt. Gastroenterology 2010
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Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
Alicia Latham, Preethi Srinivasan, Yelena Kemel, Jinru Shia, Chaitanya Bandlamudi, Diana Mandelker, Sumit Middha, Jaclyn Hechtman, Ahmet Zehir, Marianne Dubard-Gault,[...]. J Clin Oncol 2019
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Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer.
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The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
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CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer.
Daniel J Weisenberger, Kimberly D Siegmund, Mihaela Campan, Joanne Young, Tiffany I Long, Mark A Faasse, Gyeong Hoon Kang, Martin Widschwendter, Deborah Weener, Daniel Buchanan,[...]. Nat Genet 2006
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Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
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Classification and characterization of microsatellite instability across 18 cancer types.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.
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Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
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The vigorous immune microenvironment of microsatellite instable colon cancer is balanced by multiple counter-inhibitory checkpoints.
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Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
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A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.