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Keyword

PMS2

Description: A human protein-coding gene involved in DNA mismatch repair and associated with hereditary cancer syndromes when altered.
Wikidata ID: wiki/Q18030629
OpenAlex ID: keywords/pms2
Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer
1994 · Nicholas C. Nicolaides, Nickolas Papadopoulos, et al. · Nature · 1,546
Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
2005 · Heather Hampel, Wendy L. Frankel, et al. · New England Journal of Medicine · 1,411
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Germline Mutations in Predisposition Genes in Pediatric Cancer
2015 · Jinghui Zhang, Michael F. Walsh, et al. · New England Journal of Medicine · 1,343
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Eukaryotic DNA mismatch repair
1999 · Richard D Kolodner, Gerald T Marsischky · Current Opinion in Genetics & Development · 870
Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over
1996 · Sean M. Baker, Annemieke W. Plug, et al. · Nature Genetics · 829
Genetic susceptibility to non-polyposis colorectal cancer
1999 · Henry T Lynch, Albert de la Chapelle · Journal of Medical Genetics · 814
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
2013 · Hans F A Vasen, Ignacio Blanco, et al. · Gut · 747
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Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer
2016 · Rachel Pearlman, Wendy L. Frankel, et al. · JAMA Oncology · 709
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
2019 · Mev Dominguez-Valentin, Julian R. Sampson, et al. · Genetics in Medicine · 666
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Immunohistochemistry versus Microsatellite Instability Testing For Screening Colorectal Cancer Patients at Risk For Hereditary Nonpolyposis Colorectal Cancer Syndrome
2008 · Jinru Shia · Journal of Molecular Diagnostics · 643
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Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients
2006 · Heather Hampel, Wendy Frankel, et al. · Cancer Research · 631
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Endonucleolytic Function of MutLα in Human Mismatch Repair
2006 · Farid A. Kadyrov, Leonid Dzantiev, et al. · Cell · 626
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Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer
2018 · Alicia Latham, Preethi Srinivasan, et al. · Journal of Clinical Oncology · 618
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer
2018 · Chunling Hu, Steven N. Hart, et al. · JAMA · 577
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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
2017 · Pål Møller, Toni T Seppälä, et al. · Gut · 577
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer
2016 · Nadine Tung, Nancy U. Lin, et al. · Journal of Clinical Oncology · 556
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
2007 · H F A Vasen, G Möslein, et al. · Journal of Medical Genetics · 554
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Meiotic Pachytene Arrest in MLH1-Deficient Mice
1996 · Winfried Edelmann, Paula E Cohen, et al. · Cell · 554
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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
2015 · Pål Møller, Toni Seppälä, et al. · Gut · 549
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Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis
1995 · Sean M Baker, C.Eric Bronner, et al. · Cell · 534
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DNA repair/pro-apoptotic dual-role proteins in five major DNA repair pathways: fail-safe protection against carcinogenesis
2002 · C Bernstein · Mutation Research/Reviews in Mutation Research · 527
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer
2016 · Aung Ko Win, Mark A. Jenkins, et al. · Cancer Epidemiology Biomarkers & Prevention · 526
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
2014 · Katharina Wimmer, Christian P Kratz, et al. · Journal of Medical Genetics · 485
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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
2013 · on behalf of InSiGHT, Bryony A Thompson, et al. · Nature Genetics · 467
Mammalian MutS homologue 5 is required for chromosome pairing in meiosis
1999 · Winfried Edelmann, Paula E. Cohen, et al. · Nature Genetics · 410
Works count: 3,636
Citation count: 74,040
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