Genomes and Genes
Gene Symbol: PMS2
Description: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Alias: HNPCC4, PMS2CL, PMSL2, DNA mismatch repair protein PMS2, H_DJ0042M02.9, PMS1 protein homolog 2, mismatch repair endonuclease PMS2
Publications186 found, 100 shown here
- BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structuresY Wang
Verna and Mars McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
Genes Dev 14:927-39. 2000..Collectively, these results suggest that BRCA1 may function as a coordinator of multiple activities required for maintenance of genomic integrity during the process of DNA replication and point to a central role for BRCA1 in DNA repair...
- The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutationsLeigha Senter
Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
Gastroenterology 135:419-28. 2008..also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers...
- Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancerKaspar Truninger
Institute of Molecular Cancer Research, University of Zurich, Switzerland
Gastroenterology 128:1160-71. 2005..The protein encoded by PMS2 is also essential for MMR; however, alterations in this gene have been documented only in extremely rare cases...
- RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interferenceJ Etzler
Department of Medical Genetics, Medical University Vienna, Vienna, Austria
Hum Mutat 29:299-305. 2008..detection in the PMS2 gene is severely hampered by the presence of multiple highly similar pseudogenes, including PMS2CL. Using this assay, which is based on direct cDNA sequencing of RT-PCR products, we investigated two families with ..
- Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping geneN C Nicolaides
Howard Hughes Medical Institute, Baltimore, Maryland 21231, USA
Genomics 29:329-34. 1995The PMS2 gene encodes a protein that is involved in DNA mismatch repair and is mutated in a subset of patients with hereditary nonpolyposis colon cancer (HNPCC)...
- Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination eventChristina Ganster
Department of Medical Genetics, Medical University Vienna, Austria
Hum Mutat 31:552-60. 2010Sequence exchange between PMS2 and its pseudogene PMS2CL, embedded in an inverted duplication on chromosome 7p22, has been reported to be an ongoing process that leads to functional PMS2 hybrid alleles containing PMS2- and PMS2CL-specific ..
- Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelinesJohanna C Herkert
Department of Genetics, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
Eur J Cancer 47:965-82. 2011Bi-allelic germline mutations of one of the DNA mismatch repair genes, so far predominantly found in PMS2, cause constitutional MMR-deficiency syndrome...
- Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patientsHeather Hampel
Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, OH 43210, USA
Cancer Res 66:7810-7. 2006..Patients with MSI-positive tumors underwent testing for germ line mutations in MLH1, MSH2, MSH6, and PMS2. Of 543 tumors studied, 118 (21.7%) were MSI positive (98 of 118 MSI high and 20 of 118 MSI low)...
- A frame-shift mutation of PMS2 is a widespread cause of Lynch syndromeM Clendenning
Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
J Med Genet 45:340-5. 2008When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples ..
- Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancerMelissa C Southey
Genetic Epidemiology Laboratory, Department of Pathology, Australia
J Clin Oncol 23:6524-32. 2005..The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis...
- The interaction of the human MutL homologues in hereditary nonpolyposis colon cancerS Guerrette
Genetics and Molecular Biology Program, Department of Microbiology and Immunology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
J Biol Chem 274:6336-41. 1999....
- Human postmeiotic segregation 2 exhibits biased repair at tetranucleotide microsatellite sequencesSandeep N Shah
Department of Pathology, Gittlen Cancer Research Foundation and Intercollege Graduate Degree Program in Genetics, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA
Cancer Res 69:1143-9. 2009..This study also provides clues to possible mechanisms of repair by hPMS2 in the context of the MMR system...
- Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)Yvonne M C Hendriks
Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
Gastroenterology 130:312-22. 2006The role of the mismatch repair gene PMS2 in hereditary nonpolyposis colorectal carcinoma (HNPCC) is not fully clarified. To date, only 7 different heterozygous truncating PMS2 mutations have been reported in HNPCC-suspected families...
- A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutationsEmiko Kondo
Department of Molecular Pathology, Tohoku University School of Medicine, Miyagi 980 8575, Japan
Cancer Res 63:3302-8. 2003..Thus, this method provides a simple and reliable system for accurate diagnosis of hMLH1 alterations...
- A defined human system that supports bidirectional mismatch-provoked excisionLeonid Dzantiev
Howard Hughes Medical Institute, Duke University Medical Center, Durham, NC 27710, USA
Mol Cell 15:31-41. 2004..By contrast, RFC and PCNA have only a limited effect on 5' to 3' excision directed by a 5' strand break...
- Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatinHideki Shimodaira
Ludwig Institute for Cancer Research, University of California at San Diego, Bonner Hall 3326, 9500 Gilman Drive, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 100:2420-5. 2003..Here, we describe an interaction between PMS2, an MMR protein, and p73...
- Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20QIvana Marinovic-Terzic
Moores Cancer Center, University of California, San Diego, School of Medicine, 3855 Health Sciences Drive, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 105:13993-8. 2008..It is shown that postmeiotic segregation 2 (PMS2), an MMR protein, is required for cisplatin-induced activation of p73, a member of the p53 family of transcription ..
- Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNAFinn Cilius Nielsen
Department of Clinical Biochemistry, Rigshospitalet, DK 2100 Copenhagen, Denmark
Oncogene 23:1457-68. 2004..Taken together, the results support a model in which hEXO1 plays a role in events at the replication sites as well as a functional role in the MMR and/or recombination processes...
- Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretationHidewaki Nakagawa
Division of Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, 420 West 12th Avenue, Columbus, OH 43210, USA
Cancer Res 64:4721-7. 2004..We detected and characterized a new transcript, PMS2CL, showing 98% sequence identity with exons 9 and 11-15 of PMS2 and emanating from a locus close to PMS2 in ..
- PMS2 mutations in childhood cancerMichel De Vos
University of Leeds, Yorkshire Regional Genetics Service, United Kingdom
J Natl Cancer Inst 98:358-61. 2006Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus...
- Mutations of two PMS homologues in hereditary nonpolyposis colon cancerN C Nicolaides
Johns Hopkins Oncology Center, Baltimore, Maryland 21231
Nature 371:75-80. 1994..Both hPMS1 and hPMS2 were found to be mutated in the germline of HNPCC patients. This doubles the number of genes implicated in HNPCC and may help explain the relatively high incidence of this disease...
- Genomic organization of the human PMS2 gene familyN C Nicolaides
Johns Hopkins Oncology Center, Baltimore, Maryland 21231, USA
Genomics 30:195-206. 1995The hPMS2 gene (HGMW-approved symbol PMS2) encodes a mutL homolog that causes hereditary non-polyposis colon cancer (HNPCC) when inherited in mutant form...
- Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1Stefan Kruger
Department of Surgical Research, Dresden University of Technology, Dresden, Germany
Eur J Hum Genet 16:62-72. 2008Heterozygous germline mutations in mismatch repair (MMR) genes MLH1, PMS2, MSH2, and MSH6 cause Lynch syndrome...
- Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndromeMichel De Vos
Molecular Medicine Unit, University of Leeds, Leeds LS9 7TF, United Kingdom
Am J Hum Genet 74:954-64. 2004..However, autozygosity mapping indicated linkage to a region of 7p22 surrounding the PMS2 mismatch-repair gene. Sequencing of genomic PCR products initially failed to identify a PMS2 mutation...
- Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivationJessie Auclair
Centre Leon Berard, Unité d Oncologie Moléculaire, Lyon, France
Hum Mutat 28:1084-90. 2007..carrying compound heterozygous mutations in the MSH6 gene; and the other, compound heterozygous mutations in the PMS2 gene. Interestingly, the inactivation of one PMS2 allele was likely caused by gene conversion...
- Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregationSharlene Gill
British Columbia Cancer Agency, Vancouver, British Columbia, Canada
Clin Cancer Res 11:6466-71. 2005..The genetic deficiency leading to the MSI-H phenotype in such cases is unknown. PMS2 is another member of the DNA mismatch repair complex...
- The PMS2 subunit of human MutLalpha contains a metal ion binding domain of the iron-dependent repressor protein familyJan Kosinski
Laboratory of Bioinformatics and Protein Engineering, International Institute of Molecular and Cell Biology, Trojdena 4, 02 109 Warsaw, Poland
J Mol Biol 382:610-27. 2008..Finally, we demonstrate that the conserved residues of the metal ion binding domain are crucial for MMR activity of MutLalpha in vitro...
- Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repairGuy Tomer
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97201, USA
J Biol Chem 277:21801-9. 2002MutLalpha, a heterodimer composed of Mlh1 and Pms2, is the major MutL activity in mammalian DNA mismatch repair. Highly conserved motifs in the N termini of both subunits predict that the protein is an ATPase...
- Interactions of the DNA mismatch repair proteins MLH1 and MSH2 with c-MYC and MAXMary Mac Partlin
Department of Medical Oncology, Glasgow University, UK
Oncogene 22:819-25. 2003..The effect on HGPRT mutation rate is small (2-3-fold), but is consistent with deregulated c-MYC expression partially inhibiting MMR activity...
- Clinical implications of advances in the molecular genetics of colorectal cancerH T Lynch
Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68179, USA
Tumori 81:19-29. 1995..PMS1 at chromosome 2p and PMS2 2 at chromosome 7q have also been implicated in HNPCC's etiology...
- Expression of deoxyribonucleic acid repair enzymes during spermatogenesis in miceL L Richardson
Department of Biochemistry and Cellular and Molecular Biology, University of Tennessee, Knoxville, Tennessee 37996 0840, USA
Biol Reprod 62:789-96. 2000..reverse transcription-polymerase chain reaction approach to identify germ cell transcripts for the MutL homologue, Pms2, and two members of the MutS family, Msh2 and Msh3...
- Giant virus with a remarkable complement of genes infects marine zooplanktonMatthias G Fischer
Department of Microbiology, University of British Columbia, Vancouver, BC, Canada V6T 1Z4
Proc Natl Acad Sci U S A 107:19508-13. 2010..CroV is a highly complex marine virus and the only virus studied in genetic detail that infects one of the major groups of predators in the oceans...
- [How can we diagnose and better understand inflammatory myopathies? The usefulness of auto-antibodies]Jean Sibilia
CHU de Strasbourg, Hopital Hautepierre, Service de Rhumatologie, Laboratoire d Immunologie, 67098 Strasbourg Cedex, France
Presse Med 39:1010-25. 2010..Other auto-antibodies are directed against nuclear auto-antigens: the anti-Mi-2, anti-PMS (PMS1, PMS2) and related antibodies (MLH1, DNA PKcs…), anti-56 kDa, anti-MJ (NXP-2), anti-SAE and anti-p155/p140 (TIF-1γ)...
- Paternal exposure to cyclophosphamide induces DNA damage and alters the expression of DNA repair genes in the rat preimplantation embryoW Harrouk
Departments of Pharmacology and Therapeutics, McGill University, 3655 Promenade Sir William Osler, Montreal, H3G 1Y6, Quebec, Canada
Mutat Res 461:229-41. 2000..transcripts for specific members of the nucleotide excision repair family (XPC) and mismatch repair family (MSH2, PMS2) were elevated greatly in control embryos compared to embryos sired by drug-treated males; in contrast, transcripts ..
- Impact of mismatch repair deficiency on genomic stability in the maternal germline and during early embryonic developmentJon S Larson
Department of Molecular Genetics, Biochemistry and Microbiology, College of Medicine, University of Cincinnati, Cincinnati, OH 45267 0524, USA
Mutat Res 556:45-53. 2004The effects of lack of the mismatch repair protein PMS2 on germline and maternal-effect mutations were studied in transgenic mice that allow mutant cells to be visualized in situ...
- A novel trinuclear platinum complex overcomes cisplatin resistance in an osteosarcoma cell systemP Perego
Division of Experimental Oncology B, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy
Mol Pharmacol 55:528-34. 1999..ICL) formation and DNA platination, microsatellite instability, and reduced expression of the DNA mismatch repair protein PMS2. Despite BBR 3464 charge and molecular size, in U2-OS and U2-OS/Pt cells, BBR 3464 accumulation and ..
- Patients with an unexplained microsatellite instable tumour have a low risk of familial cancerL I H Overbeek
Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Br J Cancer 96:1605-12. 2007..for microsatellite instability, MLH1 promoter methylation and/or germline mutations in MLH1, MSH2, MSH6, and PMS2. Characteristics of the 76 families with a germline mutation (24 MLH1, 2 PMS2, 32 MSH2, and 18 MSH6) were compared ..
- Mice defective in the DNA mismatch gene PMS2 are hypersensitive to MNU induced thymic lymphoma and are partially protected by transgenic expression of human MGMTX Qin
Division of Hematology Oncology, Case Western Reserve University, Cleveland, Ohio, OH 44106 4937, USA
Oncogene 18:4394-400. 1999DNA mismatch repair (MMR) stabilizes the cellular genome. Mice defective in the MMR gene PMS2 are susceptible to spontaneous thymic lymphoma and sarcomas...
- Attaching and effacing Escherichia coli downregulate DNA mismatch repair protein in vitro and are associated with colorectal adenocarcinomas in humansOliver D K Maddocks
Division of Pathology, Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
PLoS ONE 4:e5517. 2009..We hypothesised that EPEC infection could influence molecular pathways involved in colorectal tumourigenesis...
- Endometrial and ovarian carcinomas with undifferentiated components: clinically aggressive and frequently underrecognized neoplasmsLaura J Tafe
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Mod Pathol 23:781-9. 2010..expression by immunohistochemistry was evaluated in 17 cases, and 8 (47%) were abnormal (7 with loss of MLH1/PMS2 and 1 with MSH6 loss)...
- Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factorsNurten Saydam
Institute of Molecular Cancer Research of the University of Zurich, Switzerland
Nucleic Acids Res 35:5706-16. 2007..Here we show that WRN physically interacts with the MSH2/MSH6 (MutSalpha), MSH2/MSH3 (MutSbeta) and MLH1/PMS2 (MutLalpha) heterodimers that are involved in the initiation of mismatch repair (MMR) and the rejection of ..
- Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndromeC P Kratz
Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Schoepfstr 41, 6020 Innsbruck, Austria
J Med Genet 46:418-20. 2009Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1)...
- Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalitiesKaruna Garg
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Am J Surg Pathol 33:925-33. 2009..The rate of IHC abnormality in the younger group was approximately 30% with a nearly equal distribution of MLH1/PMS2 and MSH2/MSH6 abnormalities. In the older age group, TM-MMR triggered IHC analysis in 31 of 34 cases...
- Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancerJ Teruya-Feldstein
Department of Pathology, Memorial Sloan Kettering Cancer Center, Memorial Hospital, New York, NY 10021, USA
Leuk Lymphoma 43:1619-26. 2002..These MMR genes include MLH1, MSH2, MSH3, MSH6, PMS1 and PMS2. We sought to analyze the occurrence of NHL and HD in families with clusters of colorectal cancers (CRC)...
- BRCA1 activates a G2-M cell cycle checkpoint following 6-thioguanine-induced DNA mismatch damageKazuhiko Yamane
Department of Radiation Oncology, Case Western Reserve University and Case Comprehensive Cancer Center University Hospitals Case Medical Center, Cleveland, Ohio 44106 6068, USA
Cancer Res 67:6286-92. 2007..The MMR proteins MSH2, MSH6, MLH1, and PMS2 are similarly detected in both cell lines...
- Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriersKatarina Zavodna
Laboratory of Cancer Genetics, Cancer Research Institute of Slovak Academy of Sciences, Vlarska 7, 833 91 Bratislava, Slovak Republic
BMC Cancer 9:405. 2009..We sought to determine the frequency of LGRs in Slovak HNPCC patients and to study LOH in tumors from LGR carriers at the LGR region, as well as at other heterozygous markers within the gene to more precisely define conversion tracts...
- Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancerOlivia Will
Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research, London, UK
Gastroenterology 132:527-30. 2007..He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis...
- A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcriptsWenche Sjursen
Department of Pathology and Medical Genetics, St Olavs University Hospital, Erling Skjalgssons gt 1, 7006 Trondheim, Norway
Fam Cancer 8:179-86. 2009..cDNA analysis was carried out for the mismatch repair gene PMS2. The patients genotype was found to be a homozygous splice site mutation in the PMS2 gene, c...
- Baseline expression profile of meiotic-specific genes in healthy fertile malesCarme Nogues
Departament Biologia Cel lular, Fisiologia i Immunologia, Universitat Autonoma Barcelona, Bellaterra, Spain
Fertil Steril 92:578-82. 2009To establish the quantitative gene-expression profile of nine meiotic genes involved in synapsis and chromosome cohesion (SYCP1, SPO11, MSH4, MSH5, MLH1, MLH3, PMS2, STAG3, and REC8) in healthy fertile males.
- Modulation of error-prone double-strand break repair in mammalian chromosomes by DNA mismatch repair protein Mlh1Laura A Bannister
Department of Biological Sciences, University of South Carolina, 700 Sumter Street, Columbia, SC 29208, USA
DNA Repair (Amst) 3:465-74. 2004..Collectively, our results suggest that Mlh1 modulates error-prone NHEJ by inhibiting the annealing of DNA ends containing noncomplementary base pairs or by promoting the annealing of microhomologies...
- TGF-beta signaling alterations and susceptibility to colorectal cancerYanfei Xu
Cancer Genetics Program, Division of Hematology Oncology, Department o Medicine, Robert H Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
Hum Mol Genet 16:R14-20. 2007..all colorectal cancer cases, a fraction higher than that attributable to mismatch repair genes MLH1, MSH2, MSH6 and PMS2. Furthermore, TGFBR1*6A is emerging as a potent modifier of colorectal cancer risk among individuals with a strong ..
- Compromised repair of clustered DNA damage in the human acute lymphoblastic leukemia MSH2-deficient NALM-6 cellsStewart M Holt
Department of Biology, Thomas Harriot College of Arts and Sciences, East Carolina University, Greenville, NC 27858, USA
Mutat Res 674:123-30. 2009..Our studies suggest that MSH2 is probably involved in the processing of the biologically significant clustered DNA damages as well as the execution of apoptosis induced by ionizing radiation...
- Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and youngerKristin C Jensen
Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
Am J Surg Pathol 32:1029-37. 2008..D5S346, and D17S250) and deficiency of MMR protein expression by immunohistochemistry (MLH1, MSH2, MSH6, and PMS2)...
- Genome-scale identification method applied to find cryptic aminoglycoside resistance genes in Pseudomonas aeruginosaJulie M Struble
Department of Chemical and Biological Engineering, University of Colorado, Boulder, CO, USA
PLoS ONE 4:e6576. 2009..Improving understanding of the evolution and genetic basis of resistance is a fundamental goal in the field of microbiology...
- Hijacked DNA repair proteins and unchained DNA polymerasesHuseyin Saribasak
Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
Philos Trans R Soc Lond B Biol Sci 364:605-11. 2009..In the mutagenic pathway, we first studied the role of mismatch repair proteins, MSH2, MSH3, MSH6, PMS2 and MLH1, since they would recognize mismatches...
- Heterozygous DNA mismatch repair gene PMS2-knockout mice are susceptible to intestinal tumor induction with N-methyl-N-nitrosoureaX Qin
Division of Hematology Oncology and Ireland Cancer Center, University Hospitals of Cleveland and Case Western Reserve University, Cleveland, OH 44106 4937, USA
Carcinogenesis 21:833-8. 2000b>PMS2-deficient (PMS2(-/-)) mice are hypersensitive to N-methyl-N-nitrosourea (MNU)-induced thymic lymphomas based on the failure to initiate mismatch repair (MMR) at O(6)-methylguanine:T mismatches formed after MNU exposure...
- Frequency and types of spontaneous Hprt lymphocyte mutations in Pms2-deficient miceJoseph G Shaddock
Division of Genetic and Reproductive Toxicology, National Center for Toxicological Research, US FDA, Jefferson, AR 72079, USA
Mutat Res 595:69-79. 2006Deficiencies in DNA mismatch repair (MMR) result in predisposition to neoplasia in both rodents and humans. Pms2 is one of the several proteins involved in the eukaryotic MMR system...
- Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinomaIppolito Modica
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Am J Surg Pathol 31:744-51. 2007..Overall, IHC with MLH1 and MSH2 antibodies detected 69% of MSI-H tumors with a specificity of 100%. Adding PMS2 and MSH6 to the antibody panel increased the sensitivity to 91% but decreased the specificity to 83%...
- Transgenic expression of human MGMT blocks the hypersensitivity of PMS2-deficient mice to low dose MNU thymic lymphomagenesisX Qin
Division of Hematology Oncology and the Ireland Cancer Center, Case Western Reserve University, Cleveland, OH 44106 4937, USA
Carcinogenesis 20:1667-73. 1999Mice deficient in the DNA mismatch repair (MMR) gene, PMS2, develop spontaneous thymic lymphomas and sarcomas. We have previously shown that PMS2(-/-) mice were hypersensitive to a single i.p...
- Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistryJinru Shia
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
J Mol Diagn 10:293-300. 2008..More recent studies that included postmeiotic segregation increased 2 (PMS2) and MSH6, on the other hand, have demonstrated an IHC predictive value that is virtually equivalent to that of MSI ..
- Hypermutability to ionizing radiation in mismatch repair-deficient, Pms2 knockout miceX S Xu
Departments of Therapeutic Radiology and Genetics, Yale University School of Medicine, New Haven, Connecticut 06520 8040, USA
Cancer Res 61:3775-80. 2001..this tolerance phenotype would render MMR-deficient animals hypermutable to IR, we compared IR mutagenesis of Pms2-deficient versus wild-type transgenic mice carrying a lambda shuttle vector for mutation detection...
- Ntg2p, a Saccharomyces cerevisiae DNA N-glycosylase/apurinic or apyrimidinic lyase involved in base excision repair of oxidative DNA damage, interacts with the DNA mismatch repair protein Mlh1p. Identification of a Mlh1p binding motifLionel Gellon
Commissariat a l Energie Atomique, Departement de Radiobiologie et Radiopathologie, UMR217 CNRS CEA Radiobiologie Moléculaire et Cellulaire, Fontenay aux Roses 92265, France
J Biol Chem 277:29963-72. 2002..Therefore, we propose that the R/K-S-R/K-Y/F-Y/F sequence could define a Mhl1 binding motif. The results also suggest that base excision repair and MMR can cooperate to prevent deleterious effects of oxidative DNA damage...
- Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumoursAndrew Ruszkiewicz
Institute of Medical and Veterinary Science, Tissue Pathology, Royal Adelaide Hospital, Adelaide, South Australia
Pathology 34:541-7. 2002The aim of this study was to assess the performance of immunohistochemistry using antibodies for MLH1, MSH2, MSH6 and PMS2 mismatch repair gene proteins against microsatellite instability (MSI) testing.
- Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repairJan Kosinski
Laboratory of Bioinformatics and Protein Engineering, International Institute of Molecular and Cell Biology, Warsaw, Poland
Hum Mutat 31:975-82. 2010..are located in the C-terminal domain (CTD) of MLH1, which is responsible for constitutive dimerization with PMS2. We analyzed which alterations may result in pathogenic effects due to interference with dimerization...
- Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized settingLucia I H Overbeek
Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands
Am J Surg Pathol 32:1246-51. 2008..from 5 different pathology laboratories evaluated 100 molecularly defined colorectal cancers stained for MLH1, PMS2, MSH2, and MSH6...
- Adenosine triphosphate stimulates Aquifex aeolicus MutL endonuclease activityJerome Mauris
New England Biolabs, Inc, Ipswich, Massachusetts, USA
PLoS ONE 4:e7175. 2009Human PMS2 (hPMS2) homologues act to nick 5' and 3' to misincorporated nucleotides during mismatch repair in organisms that lack MutH. Mn(++) was previously found to stimulate the endonuclease activity of these homologues...
- Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutationsSteffen Pistorius
Department of Visceral, Thoracic and Vascular Surgery, Technische Universitat Dresden, Fetscherstr 74, 01307 Dresden, Germany
Cancer Lett 248:89-95. 2007..disease with high penetrance, caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, PMS2 and MLH3...
- Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genesLeeanne J Mead
Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia
Clin Cancer Res 13:2865-9. 2007..We wanted to examine which microsatellite markers currently used to detect MSI best predict early-onset colorectal cancer caused by germ-line mutations in MMR genes...
- Methylation damage response in hematopoietic progenitor cellsIda Casorelli
Section of Experimental Carcinogenesis, Department of Environment and Primary Prevention, Istituto Superiore di Sanita, Rome, Italy
DNA Repair (Amst) 6:1170-8. 2007..The overexpressed genes included members of the mismatch repair (MMR) (MSH2, MSH6, MLH1, PMS2), base excision repair (AAG, APEX), DNA damage reversal (O(6)-methylguanine DNA methyltransferase) (MGMT), and DNA ..
- Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient's age or other clinical characteristicsLurmag Orta
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Am J Surg Pathol 33:934-44. 2009..with 1 or more sebaceous neoplasms based on the pattern of immunohistochemical expression of MLH1, MSH2, MSH6, and PMS2, and comparatively analyzed their clinical and pathologic characteristics, including tumor-infiltrating lymphocytes ..
- Family history and molecular features of children, adolescents, and young adults with colorectal carcinomaC Durno
Division of Gastroenterology and Clinical Nutrition, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, Ontario, Canada M5G 1X8
Gut 54:1146-50. 2005..Colorectal cancer is extremely rare in childhood. Published case series reporting children and adolescents with colorectal cancer have not focused on the underlying genetic aspects of the tumour or genetic susceptibility of the families...
- Changes in the expression profile of the meiosis-involved mismatch repair genes in impaired human spermatogenesisErnest Terribas
Medical and Molecular Genetics Center Fundació IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
J Androl 31:346-57. 2010..of MMR genes in impaired human spermatogenesis, we performed transcript levels analysis of MMR genes (MLH1, MLH3, PMS2, MSH4, and MSH5), and other meiosis-involved genes (ATR, HSPA2, and SYCP3) as controls, by real-time reverse ..
- Analysis of the quaternary structure of the MutL C-terminal domainJan Kosinski
Institut für Biochemie FB 08, Justus Liebig Universitat, Giessen D 35392, Germany
J Mol Biol 351:895-909. 2005....
- Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinomaFei Bao
Department of Pathology, Columbia University Medical Center, Weill Cornell Medical College, New York, NY, USA
Am J Surg Pathol 34:1798-804. 2010..instability (MSI), and the combined results of mutL homolog 1 (MLH1), postmeiotic segregation increased 2 (PMS2), mutS homolog 2 (MSH2), or mutS homolog 6 (MSH6) immunostains may point to the defective MMR protein in tumors ..
- Counterpoint: implementing population genetic screening for Lynch Syndrome among newly diagnosed colorectal cancer patients--will the ends justify the means?Michael J Hall
Medical Oncology and Cancer Prevention and Control, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
J Natl Compr Canc Netw 8:606-11. 2010Inherited mutations in 1 of 4 known mismatch repair genes (MLH1, MSH2, MSH6, PMS2) are associated with various cancer risks collectively referred to as Lynch syndrome...
- Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of BrazilSilvia Liliana Cossio
Programa de Pós Graduação em Medicina Ciências Gastroenterológicas, Universidade Federal do Rio Grande do Sul UFRGS, Porto Alegre, RS, Brazil
Fam Cancer 9:131-9. 2010..syndrome caused by germline mutations in one of the mismatch repair (MMR) genes: MLH1, MSH2, MSH6 and PMS2. Clinically, Lynch syndrome is characterized by early onset (45 years) of colorectal cancer (CRC), as well as extra-..
- The Bloom's syndrome helicase interacts directly with the human DNA mismatch repair protein hMSH6Graziella Pedrazzi
Institute of Veterinary Biochemistry and Molecular Biology, University of Zurich, Winterthurerstr 190, CH 8057 Zurich, Switzerland
Biol Chem 384:1155-64. 2003....
- Genetic susceptibility to distinct bladder cancer subphenotypesLin T Guey
Spanish National Cancer Research Centre, Madrid, Spain
Eur Urol 57:283-92. 2010..It is conceivable that specific patterns of genetic susceptibility are associated with particular subphenotypes...
- Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6Denise Campisi Hegan
Department of Therapeutic Radiology, Yale University School of Medicine, PO Box 208040, New Haven, CT 06520 8040, USA
Carcinogenesis 27:2402-8. 2006..in MMR-deficient mice using two transgenic reporter genes, supFG1 and cII, in the context of mice deficient for Pms2, Mlh1, Msh2, Msh3 or Msh6 or both Msh2 and Msh3 or both Msh3 and Msh6...
- Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-AT Kato
Radiation Biology Center, Kyoto University, Kyoto 606, Japan
Mutat Res 422:279-83. 1998....
- Localization of MMR proteins on meiotic chromosomes in mice indicates distinct functions during prophase INadine K Kolas
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
J Cell Biol 171:447-58. 2005..Mutations of three of the four MutL homologues (Mlh1, Mlh3, and Pms2) result in meiotic defects...
- Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiencyJinru Shia
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Mod Pathol 26:131-8. 2013..Our analyses showed that these tumors belonged to two distinct categories: (1) MLH1 and/or PMS2 protein-deficient carcinomas (n=5, including 1 with a pathogenic mutation in PMS2); and (2) MLH1, PMS2 and MSH2 ..
- Mismatch repair protein deficiency is common in sebaceous neoplasms and suggests the importance of screening for Lynch syndromeElizabeth F Plocharczyk
Department of Pathology, The Wexner Medical Center at the Ohio State University, Columbus, OH, USA
Am J Dermatopathol 35:191-5. 2013..IHC for MLH1, PMS2, MSH2, and MSH6 was performed on 36 benign and malignant sebaceous neoplasms with the absence of one or more MMRP ..
- Contributions of molecular analysis to the diagnosis and treatment of gastrointestinal neoplasmsAndrew M Bellizzi
Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IA 52242 Electronic address
Semin Diagn Pathol 30:329-61. 2013..clinical applications of 11 immunohistochemical stains (p53, HER2, KIT, SDHB, SMAD4, beta-catenin, L-FABP, MLH1, PMS2, MSH2, and MSH6), the results of which directly reflect underlying genetic or epigenetic events...
- Lynch syndrome-associated colorectal carcinoma: frequent involvement of the left colon and rectum and late-onset presentation supports a universal screening approachDouglas J Hartman
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213
Hum Pathol 44:2518-28. 2013..A significant proportion (32%) of LS-associated colorectal carcinoma is identified in patients >60 years. Finally, our results demonstrate similar morphologic features between LS-associated and sporadic MSI-H colorectal carcinomas. ..
- Recurrent and founder mutations in the PMS2 geneJ Tomsic
Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
Clin Genet 83:238-43. 2013Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer...
- The effect of cold storage on recombination frequencies in human male testicular cellsF Sun
Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
Cytogenet Genome Res 106:39-42. 2004..These results demonstrate that testicular specimens may be shipped on ice without compromising data on chromosome pairing and recombination in early meiosis...
- Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cellsC Tease
Department of Biological Sciences, University of Warwick, Coventry, UK
Cytogenet Genome Res 107:208-15. 2004..A preliminary investigation of SC loop size by fluorescence in situ hybridization (FISH) indicated loops may be shorter in oocytes than in spermatocytes...
- Colorectal adenocarcinoma: a pediatric case review with a focus on mismatch repair gene mutations and E-cadherin expressionRaul S Gonzalez
Department of Pathology, Emory University, Atlanta, GA 30322, USA
Pediatr Dev Pathol 15:192-8. 2012..Germ line mutations in DNA mismatch repair (MMR) genes (eg, MLH1, MSH2, PMS2, MSH6) have been established as the molecular genetic basis of Lynch syndrome...
- Identification of nuclear protein targets for six leukemogenic tyrosine kinases governed by post-translational regulationAndrew Pierce
Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom
PLoS ONE 7:e38928. 2012..Validation of a common change was also undertaken with PMS2, a DNA mismatch repair protein...
- [Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation]D Ilencikova
II detská klinika, LF UK a DFNsP Bratislava, Slovenska republika
Klin Onkol 25:S34-8. 2012..Biallelic germline mutations of genes MLH1, MSH2, MSH6 and PMS2 in CMMR-D are characterized by increased risk of hematological malignancies, atypical brain tumors and early onset ..
- Relationship between DNA mismatch repair genes expression, Ku-genes expression and ploidy-related parameters in the progression of pigmented lesions of the skinMonika Korabiowska
Department of Cytopathology, Department of Gastroenteropathology, Georg August University Gottingen, 37075 Gottingen, Germany
In Vivo 16:317-21. 2002Defects of DNA repair systems in cutaneous tumours are related to DNA mismatch repair genes (MLH1, MSH2, PMS1, PMS2) and Ku70/80 genes involved in double- strand repair...
- Alterations in PMS2, MSH2 and MLH1 expression in human prostate cancerYian Chen
Laboratory of Cancer Genomics, Hollings Cancer Center, Medical University of South Carolina, Charleston, SC 29425, USA
Int J Oncol 22:1033-43. 2003..paraffin-embedded human prostate tumors, showed reduction or absence of MMR protein expression (MLH1, MSH2, PMS2) in the epithelium of prostate tumor foci compared to normal adjacent prostate tissue...
- Evidence for the lack of mismatch-repair directed antirecombination during mouse meiosisJ Qin
Molecular Biology Program, University of Southern California, 835 West 37th St, Los Angeles, CA 90089 1340, USA
J Hered 93:201-5. 2002Meiotic recombination was studied in DNA mismatch repair (MMR)-deficient mice using a strain carrying a Pms2 knockout mutation...
- High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriersEli Marie Grindedal
Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet Medical Centre, Oslo, Norway
Fam Cancer 8:145-51. 2009..rates of endometrial cancer in women either having a mutation in one of the four MMR genes MLH1, MSH2, MSH6 or PMS2 (Mut+) or belonging to families meeting the revised Amsterdam criteria in which no MMR mutation was detected (Ams+)...
- The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2E Kondo
Department of Molecular Pathology, Tohoku University School of Medicine, Sendai, Miyagi, 980 8575, Japan
Nucleic Acids Res 29:1695-702. 2001..Furthermore, we show that there is competition for the interacting domain in hMLH1 among the three other MutL homologues. Therefore, the quantitative balance of these three MutL heterodimers may be important in their functions...
- Different mutator phenotypes in Mlh1- versus Pms2-deficient miceX Yao
Molecular Biology Program, University of Southern California, Los Angeles, CA 90089 1340, USA
Proc Natl Acad Sci U S A 96:6850-5. 1999..Mouse strains homozygous for knockouts of either the Pms2 or Mlh1 MMR gene develop cancer but exhibit very different tumor spectra; only Mlh1(-/-) animals develop intestinal ..
- Bi-directional routing of DNA mismatch repair protein human exonuclease 1 to replication foci and DNA double strand breaksSascha E Liberti
Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
DNA Repair (Amst) 10:73-86. 2011..Our results reveal that protein domains in hEXO1 in conjunction with specific protein interactions control bi-directional routing of hEXO1 between on-going DNA replication and repair processes in living cells...
- Mlh1 can function in antibody class switch recombination independently of Msh2Carol E Schrader
Department of Molecular Genetics and Microbiology, and Program in Immunology and Virology, University of Massachusetts Medical School, 55 Lake Ave North, Worcester, MA 01655 0122, USA
J Exp Med 197:1377-83. 2003..analyses of switch recombination junctions indicated that the roles of Msh2 and the MutL homologues, Mlh1 and Pms2, differ. We now asked if Msh2 and Mlh1 function in the same pathway during switch recombination...
- Differences and evolution of the methods for the assessment of microsatellite instabilityL Laghi
Department of Gastroenterology, IRCCS Istituto Clinico Humanitas, Rozzano, Milano, Italy
Oncogene 27:6313-21. 2008..cancers, the MSI signature identifies hereditary cases arising in patients with germline mutations in hMLH1, hMSH2, PMS2 and a fraction of those with hMSH6 mutations, as well as sporadic cancers with epigenetic hMLH1 promoter ..
- Hypermutation in Ig V genes from mice deficient in the MLH1 mismatch repair proteinQ H Phung
Laboratory of Molecular Genetics, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
J Immunol 162:3121-4. 1999..Previous studies have shown that V genes from mice deficient for the MSH2 and PMS2 mismatch repair proteins have frequencies of mutation that are comparable with those from wild-type (wt) mice; ..
- INHERITED MSH6 MUTATIONS IN DIVERSE COLORECTAL CANCERSSapna Syngal; Fiscal Year: 2004..Mutations in four mismatch repair genes (MSH2, MLH1, PMS1 and PMS2) have been identified primarily in families with hereditary nonpolyposis colorectal cancer (HNPCC) featuring high ..
- FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUPNoralane Lindor; Fiscal Year: 2007..products to other CFR sites for characterization of somatic MLH1 methylation\par and BRAF analysis, germline PMS2 and MYH mutations; 7) maintain local bioinformatics and data\par transmissions; 8) maintain necessary ..
- LYMPHOMAGENESIS OF O6-METHYLGUANINEStanton Gerson; Fiscal Year: 2002..In the first Specific Aim, transgenic mice defective in one of two mismatch repair proteins, PMS2 or MSH2 will be treated with MNU and followed for induction of tumors...
- DNA replication, DNA repair and microsatellite stabilityKristin Eckert; Fiscal Year: 2009..The ex vivo shuttle vector system will be used in naturally occurring MLH1, PMS2, NBS1 and hMre11-defective lymphoblastoid cell lines, and in cells with gene expression down-regulated by antisense ..
- MISMATCH REPAIR PROTEIN, PMS2, AND GENETIC RECOMBINATIONSEAN BAKER; Fiscal Year: 2002..adapted from investigator's abstract: Male mice homozygous for a null mutation in the DNA mismatch repair gene, Pms2, are sterile and produce only abnormal spermatozoa...
- IMMUNITY IN TRANSGENIC MICEErik Selsing; Fiscal Year: 2010..If ? transgene translocations also do not involve AID then this would provide a convenient model system for genetic analyses of the sequences and proteins important for the IgH translocation process. ..
- MISMATCH REPAIR DEFECTS AND HUMAN TUMOR RADIOSENSITIZATITimothy Kinsella; Fiscal Year: 2003Mutations or loss of expression of DNA mismatch repair (MMR) genes especially MLH1, MSH2 and PMS2) have been found with an increasing frequency in many types of sporadic human colon cancers, along with the causal relationship previously ..
- PCNA clamp mechanisms in DNA replication and repairManju M Hingorani; Fiscal Year: 2010..Knowledge gained from this study will help elucidate how clamps help regulate the critical processes of DNA replication and DNA mismatch repair. ..
- MOLECULAR ANALYSES OF MLH3 NULL MICESteven Lipkin; Fiscal Year: 2003..genes associated with microsatellite instability have previously been described: MLH1, MSH2, MSH3, MSH6, PMS1, and PMS2. Each one of these genes is associated with genetic susceptibility to cancer in humans (specifically, Hereditary ..
- Links between Mismatch Repair and ReplicationHernan Flores Rozas; Fiscal Year: 2005..coli MutS protein, MSH2, MSH3 and MSH6. Three yeast homologs of E. coli MutL are required for MMR, MLH1, PMS1 (PMS2 in humans) and MLH3...
- Mismatch Repair and Associated Genes in Suppression of GI Adenomas and CarcinomasSteven Lipkin; Fiscal Year: 2009..Briefly, mammalian MLH/PMS proteins heterodimerize to form three distinct complexes, MLH1/PMS1, MLH1/PMS2 and MLH1/MLH3, that interact with MSH proteins...