Genomes and Genes
Gene Symbol: MSH6
Description: mutS homolog 6
Alias: GTBP, GTMBP, HNPCC5, HSAP, p160, DNA mismatch repair protein Msh6, G/T mismatch-binding protein, mutS protein homolog 6, mutS-alpha 160 kDa subunit, sperm-associated protein
Publications201 found, 100 shown here
- Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasmsJinru Shia
Department of Pathology, Memorial Sloan Kettering, Cancer Center, New York, NY 10021, USA
Am J Surg Pathol 29:96-104. 2005..of IHC versus that of microsatellite instability (MSI) testing in predicting mutation status of the MLH1, MSH2, and MSH6 genes in colorectal carcinomas and adenomas, and explored the frequency and significance of immunohistochemical ..
- Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1Tomonori Yabuta
Biology Division, National Cancer Center Research Institute, Tokyo 104 0045, Japan
Int J Oncol 24:697-702. 2004..Since DLD-1 carries frameshift mutations in both alleles of the MSH6 gene and missense mutations in the POLD1 gene, either or both of these mutations were suggested to be involved in ..
- 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)...
- Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutationsE Barrow
Department of General Surgery, Manchester Royal Infirmary, Manchester, UK
Clin Genet 75:141-9. 2009..0003). Gastric cancer risk in those born after 1935 does not justify surveillance. These penetrance estimates have been corrected for ascertainment bias and are appropriate for those referred to a high-risk clinic...
- Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cellsJ T Drummond
Howard Hughes Medical Institute, Duke University Medical Center, Durham, NC 27710, USA
Science 268:1909-12. 1995....
- Mutations of GTBP in genetically unstable cellsN Papadopoulos
Johns Hopkins Oncology Center, Baltimore, MD 21231, USA
Science 268:1915-7. 1995..Here the gene encoding a G/T mismatch-binding protein (GTBP) was localized to within 1 megabase of the related hMSH2 gene on chromosome 2 and was found to be inactivated in ..
- Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repairJ I Risinger
Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709, USA
Nat Genet 14:102-5. 1996..A subsequent search revealed a second gene mutation in HHUA cells, a missense mutation in the MSH6 gene...
- hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6S Acharya
Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, USA
Proc Natl Acad Sci U S A 93:13629-34. 1996..proteins, similar to protein complexes demonstrated by studies of the Saccharomyces cerevisiae MSH2, MSH3, and MSH6. hMSH2 was also found to form a homomultimer complex, but neither hMSH3 nor hMSH6 appear to interact with ..
- Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancerM Miyaki
Nat Genet 17:271-2. 1997
- The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switchS Gradia
Department of Microbiology and Immunology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
Cell 91:995-1005. 1997..These results suggest a new model for the function of MutS proteins during mismatch repair in which the switch determines the timing of downstream events...
- Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancerS Guerrette
Genetics and Molecular Biology Program, Department of Microbiology and Immunology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
Mol Cell Biol 18:6616-23. 1998..These data support the notion that these HNPCC-associated mutations may affect some other function of the heterodimeric complexes than simply the static interaction of hMSH2 with hMSH3 or hMSH2 with hMSH6...
- Familial endometrial cancer in female carriers of MSH6 germline mutationsJ Wijnen
Nat Genet 23:142-4. 1999
- Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutationsY Wu
Departments of Medical Genetics, University of Groningen, Groningen, The Netherlands
Am J Hum Genet 65:1291-8. 1999..Correction of base-base mismatches is the major function of MSH6. Since mismatches present with an MSI-low phenotype, we assumed that the phenotype in patients with HNPCC-related ..
- 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..This complex includes tumor suppressors and DNA damage repair proteins MSH2, MSH6, MLH1, ATM, BLM, and the RAD50-MRE11-NBS1 protein complex...
- Identification of factors interacting with hMSH2 in the fetal liver utilizing the yeast two-hybrid system. In vivo interaction through the C-terminal domains of hEXO1 and hMSH2 and comparative expression analysisL J Rasmussen
Department of Life Sciences and Chemistry, Roskilde University, DK 4000, Roskilde, Denmark
Mutat Res 460:41-52. 2000..Northern blot analysis also revealed that hEXO1/HEX1 is highly expressed in several liver cancer cell lines as well as in colon and pancreas adenocarcinomas, but not in the corresponding non-neoplastic tissue...
- Nuclear translocation of mismatch repair proteins MSH2 and MSH6 as a response of cells to alkylating agentsM Christmann
Division of Applied Toxicology, Institute of Toxicology, University of Mainz, Obere Zahlbacher Strasse 67, D 55131 Mainz, Germany
J Biol Chem 275:36256-62. 2000..in DNA, such as N-methyl-N'-nitro-N-nitrosoguanidine and N-methyl-N-nitrosourea, elevates the level of MSH2 and MSH6 and increases GT mismatch binding activity in the nucleus...
- hMSH3 and hMSH6 interact with PCNA and colocalize with it to replication fociH E Kleczkowska
Institute of Medical Radiobiology of the University of Zurich and the Paul Scherrer Institute, Ch 8008 Zurich, Switzerland
Genes Dev 15:724-36. 2001..We postulate that PCNA plays a role in repair initiation by guiding the mismatch repair proteins to free termini in the newly replicated DNA strands...
- Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigreeA Wagner
Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
J Med Genet 38:318-22. 2001..Recently, mutations in another MMR gene, MSH6 (also known as GTBP), have also been shown to result in HNPCC...
- Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivationJens Plaschke
Department of Surgical Research, Carl Gustav Carus Klinikum, Technical University, Dresden, Germany
Int J Cancer 97:643-8. 2002..We conclude that the involvement of somatic or epigenetic hMSH6 inactivation in colorectal cancer is rare...
- Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndromeReetta Kariola
Department of Biosciences, Division of Genetics, University of Helsinki, FIN 00014 Helsinki, Finland
Hum Mol Genet 11:1303-10. 2002To date, five mismatch-repair (MMR) genes, MLH1, MSH2, MSH6, MSH3 and PMS2, are known to be involved in human MMR function...
- Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?Reetta Kariola
Department of Biosciences, Division of Genetics, University of Helsinki, Viikinkaari 5, 00014 Helsinki, Finland
Hum Genet 112:105-9. 2003..Germline mutations in five different mismatch repair (MMR) genes, MSH2, MSH6, MLH1, MLH3, and PMS2 are linked to HNPCC...
- Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancersPaul J Goodfellow
Department of Surgery, Washington University School of Medicine, Campus Box 8109, 660 South Euclid Avenue, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 100:5908-13. 2003..Sporadic endometrial cancers also exhibit MSI, usually associated with methylation of the MLH1 promoter. Germ-line MSH6 mutations, which are rare in HNPCC, have been reported in several families with multiple members affected with ..
- Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndromeJ Plaschke
Department of Surgical Research, Carl Gustav Carus Klinikum, Dresden University of Technology, D 01307 Dresden, Germany
J Med Genet 40:597-600. 2003..A substantial fraction of these mutations exists in genomic rearrangements of hMSH2 and hMLH1. In contrast, genomic rearrangements have not been reported in hMSH6...
- 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....
- MSH6 germline mutations are rare in colorectal cancer familiesPaolo Peterlongo
Cell Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Int J Cancer 107:571-9. 2003Germline mutations in MSH6 can cause HNPCC, which is associated with a tumor phenotype featuring MSI. However, tumors arising in persons with disease-causing mutations of MSH6 may or may not exhibit MSI...
- Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysisMaran J W Berends
Department of Gynaecology, University Hospital Groningen, Hanzeplein 1, PO Box 30 001, 9700 RB Groningen, The Netherlands
J Clin Oncol 21:4364-70. 2003....
- MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylationYi Wang
Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Proc Natl Acad Sci U S A 100:15387-92. 2003..These data support a model in which MSH2 and ATR function upstream to regulate two branches of the response pathway to DNA damage caused by MNNG...
- The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicaseQin Yang
Laboratory of Human Carcinogenesis, National Cancer Institute, NIH, Bldg 37, Rm 3068, 37 Convent Drive, Bethesda, MD 20892 4255, USA
Oncogene 23:3749-56. 2004..These data suggest that hMSH2/6 formed a complex with BLM-p53-RAD51 in response to the damaged DNA forks during double-stranded break repair...
- 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...
- MutSalpha binds to and promotes synapsis of transcriptionally activated immunoglobulin switch regionsErik D Larson
Department of Immunology, Molecular and Cellular Biology Graduate Program, University of Washington School of Medicine, 1959 N E Pacific Street, Box 357650, Seattle, WA 98195, USA
Curr Biol 15:470-4. 2005..deaminase, AID, and conserved DNA repair factors, including the mismatch repair heterodimer, MutSalpha (MSH2/MSH6)...
- 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...
- High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genesMichael O Woods
Discipline of Genetics, Department of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland, Canada
Clin Cancer Res 11:6853-61. 2005..Our purpose was to determine the proportion of hereditary colorectal cancer and to determine the genetic basis of disease in both population and clinically referred cohorts from Newfoundland...
- MUTYH and the mismatch repair system: partners in crime?Renée C Niessen
Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Hum Genet 119:206-11. 2006..5%). In group II five monoallelic germline MUTYH mutations were found (14%), four of them in MSH6 missense mutation carriers (20%)...
- Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancerR C Niessen
Department of Gastroenterology, University Medical Center Groningen, 9700 RB Groningen, The Netherlands
Gut 55:1781-8. 2006..Patients with early-onset colorectal cancer (CRC) or those with multiple tumours associated with hereditary non-polyposis colorectal cancer (HNPCC) raise suspicion of the presence of germline DNA mismatch repair (MMR) gene mutations...
- Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in GermanyC Lamberti
Department of Internal Medicine I, University of Bonn, Bonn, Germany
Digestion 74:58-67. 2006..This project aims at estimating the proportion of HNPCC among unselected patients with CRC...
- Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnosticsKristina Lagerstedt Robinson
Department of Clinical Genetics, Karolinska University Hospital, S 17176 Stockholm, Sweden
J Natl Cancer Inst 99:291-9. 2007..The syndrome is explained by germline mutations in DNA mismatch repair (MMR) genes, and there is a need for diagnostic tools to preselect patients for genetic testing to diagnose those with HNPCC...
- Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCCB Roncari
Department of Medicine and Medical Specialties, University of Modena and Reggio Emilia, Modena, Italy
Clin Genet 72:230-7. 2007..In a lower fraction of cases, another gene of the mismatch repair (MMR) machinery, MSH6, may be responsible...
- Recently identified colon cancer predispositions: MYH and MSH6 mutationsFay Kastrinos
Division of Gastroenterology, Brigham and Women s Hospital, Boston, MA, USA
Semin Oncol 34:418-24. 2007..Most recently, MYH-associated polyposis (MAP) and an "atypical Lynch syndrome" related to the presence of MSH6 mutations have been linked to an increased risk of CRC...
- 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. 2008Heterozygous germline mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 cause hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, a dominantly inherited cancer susceptibility syndrome...
- Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohortsLisa A Devlin
Department of Medical Genetics, Belfast City Hospital, Belfast HSC Trust, Belfast BT9 7AB, United Kingdom
Ulster Med J 77:25-30. 2008To determine and compare the prevalence of MSH6 (a mismatch repair gene) mutations in a cohort of families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), and in an unselected cohort of endometrial cancer patients (EC).
- Human mismatch repair protein MSH6 contains a PWWP domain that targets double stranded DNACedric Laguri
CEA Laboratoire de Biologie Structurale et Radiobiologie, iBiTec Saclay, 91191 Gif sur Yvette, France
Biochemistry 47:6199-207. 2008The eukaryotic mismatch repair (MMR) protein MSH6 exhibits a core region structurally and functionally similar to bacterial MutS...
- Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutationsE Barrow
Department of General Surgery, Manchester Royal Infirmary, Manchester, UK
Clin Genet 74:233-42. 2008..Current colonoscopic screening guidelines are appropriate...
- Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome populationMef Nilbert
Clinical Research Centre and HNPCC Register, Copenhagen University, Hvidovre University Hospital, Kettegard Alle 30, Hvidovre, 2650, Denmark
Fam Cancer 8:75-83. 2009..The different MMR genes contribute to 40% (MSH2), 29% (MLH1), and 22% (MSH6) of the mutations and the Danish population thus shows a considerably higher frequency of MSH6 mutations than ..
- A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic settingD Ramsoekh
Erasmus MC University Medical Center, s Gravendijkwal 230, 3015CE Rotterdam, The Netherlands
Gut 57:1539-44. 2008In Lynch syndrome, the clinical phenotype in MSH6 mutation families differs from that in MLH1 and MSH2 families...
- Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch bindingJennifer L Cyr
Neag Comprehensive Cancer Center, University of Connecticut Health Center, Farmington, Connecticut 06030, USA
J Biol Chem 283:31641-8. 2008....
- The nucleotide binding dynamics of human MSH2-MSH3 are lesion dependentBarbara A L Owen
Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
Nat Struct Mol Biol 16:550-7. 2009..that the human DNA mismatch complex MSH2-MSH3 recognizes small loops by a mechanism different from that of MSH2-MSH6 for single-base mismatches. The subunits MSH2 and MSH3 can bind either ADP or ATP with similar affinities...
- Meta-analysis of MSH6 gene mutation frequency in colorectal and endometrial cancersYa shuang Zhao
Department of Epidemiology, Public Health College, Harbin Medical University, Heilongjiang Province, People s Republic of China
J Toxicol Environ Health A 72:690-7. 2009Studies on mutations and mutation frequencies of the MSH6 gene, which mainly focus on new types of mutations in small samples, have been published ever since the first report of MSH6 mutation in two atypical hereditary non-polyposis ..
- Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndromeElena Stoffel
Brigham and Women s Hospital, Boston, Massachusetts Dana Farber Cancer Institute, Boston, Massachusetts, USA
Gastroenterology 137:1621-7. 2009..Some previous estimates of lifetime risk for CRC and endometrial cancer (EC) did not control for ascertainment and were susceptible to bias toward overestimated risk...
- Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutationTim Ripperger
Institute of Cell and Molecular Pathology, Hannover Medical School, Carl Neuberg Str 1, 30625 Hannover, Germany
Haematologica 95:841-4. 2010..We report on a case with constitutional mismatch repair deficiency caused by a novel MSH6 mutation leading to a T-cell lymphoma and colonic adenocarcinoma at six and 13 years of age, respectively...
- Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical managementDewkoemar Ramsoekh
Department of Gastroenterology and Hepatology Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
Hered Cancer Clin Pract 7:17. 2009..The risk is dependent of the affected mismatch repair gene. The aim of the present study was to calculate the cumulative risk of LS related cancers in proven MLH1, MSH2 and MSH6 mutation carriers.
- Risks of Lynch syndrome cancers for MSH6 mutation carriersLaura Baglietto
Cancer Epidemiology Centre, Victorian Cancer Registry, Carlton, Victoria, Australia
J Natl Cancer Inst 102:193-201. 2010Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies of mutation carriers, their cancer risks are uncertain.
- MutSbeta exceeds MutSalpha in dinucleotide loop repairJ Kantelinen
Department of Biological and Environmental Sciences, University of Helsinki, Viikinkaari 5, Helsinki, Finland
Br J Cancer 102:1068-73. 2010The target substrates of DNA mismatch recognising factors MutSalpha (MSH2+MSH6) and MutSbeta (MSH2+MSH3) have already been widely researched. However, the extent of their functional redundancy and clinical substance remains unclear...
- MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancerMaría Dolores Giráldez
Gastroenterology Department, Institut de Malalties Digestives i Metaboliques, Hospital Clinic, Centro de Investigacion Biomedica en Red de Enfermedades Hepaticas y Digestivas CIBERehd, Institut d Investigacions Biomediques August Pi i Sunyer, DIBAPS, University of Barcelona, Barcelona, Spain
Clin Cancer Res 16:5402-13. 2010..Lynch syndrome is the most frequent CRC hereditary cause. The MUTYH gene has also been related to hereditary CRC. A systematic characterization of these two diseases has not been reported previously in this population...
- Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeatsJ F You
INSERM, UMRS 938 Centre de Recherche Saint Antoine, Equipe Instabilité des Microsatellites et Cancers, 184 rue du Faubourg Saint Antoine, Paris F 75012, France
Br J Cancer 103:1840-5. 2010..are characterised by alterations in one of the four major proteins of the mismatch repair (MMR) system (MLH1, MSH2, MSH6 or PMS2) that renders them MMR deficient, whereas MSI-L and MSS tumours are generally MMR proficient...
- Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndromeValerie Bonadona
Universite Lyon 1, Centre National de la Recherche Scientifique UMR5558, Villeurbanne, Centre Leon Berard, Lyon, Cedex 08, France
JAMA 305:2304-10. 2011..Providing accurate estimates of cancer risks is a major challenge in the clinical management of Lynch syndrome...
- The hMsh2-hMsh6 complex acts in concert with monoubiquitinated PCNA and Pol η in response to oxidative DNA damage in human cellsAnastasia Zlatanou
Group TLS Polymerases and Cancer, Universite Paris Sud, CNRS UMR8200, Institut Gustave Roussy, 94800 Villejuif, France
Mol Cell 43:649-62. 2011....
- Mismatch repair genes expression defects & association with clinicopathological characteristics in colorectal carcinomaGurjeet Kaur
Institute for Research in Molecular Medicine, Universiti Sains Malaysia, Penang, Malaysia
Indian J Med Res 134:186-92. 2011..This study was aimed to determine the frequency of abnormal MMR gene protein expression in colorectal carcinoma in Northern Peninsular Malaysia using immunohistochemistry...
- Interplay between mismatch repair and chromatin assemblyBarbara Schöpf
Institute of Molecular Cancer Research, University of Zurich, Winterthurerstasse 190, CH 8057 Zurich, Switzerland
Proc Natl Acad Sci U S A 109:1895-900. 2012..the processivity factor of replicative DNA polymerases, which is loaded at DNA termini and which interacts with the MSH6 subunit of the mismatch recognition factor MutSα, as well as with CAF-1...
- Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort studyAung Ko Win
The University of Melbourne, Australia
J Clin Oncol 30:958-64. 2012..To determine whether cancer risks for carriers and noncarriers from families with a mismatch repair (MMR) gene mutation are increased above the risks of the general population...
- Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesisGargi Ghosal
Department of Experimental Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA
J Biol Chem 287:34225-33. 2012..Thus, C1orf124 acts at multiple steps in TLS, stabilizes RAD18 and ubiquitinated PCNA at damage sites, and facilitates the switch from replicative to TLS polymerase to bypass DNA lesion...
- Germ-line msh6 mutations in colorectal cancer familiesR D Kolodner
Ludwig Institute for Cancer Research, Department of Medicine and Cancer Center, University of California San Diego Medical School, La Jolla 92093 0660, USA
Cancer Res 59:5068-74. 1999..We examined the frequency of germ-line msh6 mutations in a population-based series of 140 colorectal cancer patients, including 45 sporadic cases, 91 familial ..
- Adenosine nucleotide modulates the physical interaction between hMSH2 and BRCA1Q Wang
Department of Pathology and Laboratory Medicine, The Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, PA 19104, USA
Oncogene 20:4640-9. 2001..The functional interaction between BRCA1 and hMSH2 may provide a partial explanation for the background of gynecological and colorectal cancer in both HNPCC and BRCA1 kindreds, respectively...
- Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variantMaran J W Berends
Department of Gastroenterology, University Hospital Groningen, Groningen, The Netherlands
Am J Hum Genet 70:26-37. 2002The MSH6 gene is one of the mismatch-repair genes involved in hereditary nonpolyposis colorectal cancer (HNPCC). Three hundred sixteen individuals who were known or suspected to have HNPCC were analyzed for MSH6 germline mutations...
- The MutSalpha-proliferating cell nuclear antigen interaction in human DNA mismatch repairRavi R Iyer
Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710, USA
J Biol Chem 283:13310-9. 2008....
- MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer familiesH F Vasen
Netherlands Foundation for the Detection of Hereditary Tumors, Leiden University Medical Centre
J Clin Oncol 19:4074-80. 2001..The disease is caused by mutations in DNA-mismatch-repair (MMR) genes, most frequently in MLH1, MSH2, and MSH6. The aims of the present study were to compare the risk of developing colorectal, endometrial, and other cancers ..
- MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer familiesHeng Hua Zhou
Department of Pathology, Cancer Hospital, Fudan University, Shanghai 200032, China
World J Gastroenterol 14:7329-34. 2008..To detect the MLH1 gene promoter germline-methylation in probands of Chinese hereditary nonpolyposis colorectal cancer (HNPCC), and to evaluate the role of methylation in MLH1 gene promoter and molecular genetics in screening for HNPCC...
- [Study on the germline mutation of MSH6 gene in Chinese hereditary nonpolyposis colorectal cancer pedigrees using PCR based sequencing]Shi yan Yan
Department of Pathology, Cancer Hospital, Fudan University, Shanghai, 200032 PR China
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:640-5. 2007To detect the germline mutation of mismatch repair gene (MSH6) in hereditary nonpolyposis colorectal cancer (HNPCC) kindreds fulfilling different clinical criteria.
- Somatic frameshift alterations in mononucleotide repeat-containing genes in different tumor types from an HNPCC family with germline MSH2 mutationM Planck
Department of Oncology, University Hospital, Lund, Sweden
Genes Chromosomes Cancer 29:33-9. 2000..g., TGFBRII, BAX, IGFIIR, TCF4, MSH3, and MSH6. We have studied the occurrence of somatic frameshift alterations in these mononucleotide repeat-containing genes ..
- Prospective determination of prevalence of lynch syndrome in young women with endometrial cancerKaren H Lu
Department of Gynecologic Oncology, Division of Surgery, The University of Texas M D Anderson Cancer Center, 1155 Herman Pressler, Unit 1362, Houston, TX 77030 4009, USA
J Clin Oncol 25:5158-64. 2007..The purpose of this study was to determine the prevalence of MLH1, MSH2, and MSH6 mutations in an unselected cohort of women diagnosed with endometrial cancer at age younger than 50 years.
- A lack of DNA mismatch repair on an athymic murine background predisposes to hematologic malignancyMarcia R Campbell
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada
Cancer Res 65:2626-35. 2005..Here, we bred Msh2- and Msh6-deficient mice to athymic nude mice, hypothesizing that a broader tumor spectrum may be observed if mice are able ..
- First report of a de novo germline mutation in the MLH1 geneRein P Stulp
Department of Clinical Genetics, University Medical Center Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
World J Gastroenterol 12:809-11. 2006..Germline mutations in the DNA mismatch repair (MMR) genes, particularly MLH1, MSH2, and MSH6, underlie this disorder...
- 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..were analysed for microsatellite instability, MLH1 promoter methylation and/or germline mutations in MLH1, MSH2, MSH6, and PMS2...
- The Saccharomyces cerevisiae Msh2 and Msh6 proteins form a complex that specifically binds to duplex oligonucleotides containing mismatched DNA base pairsE Alani
Section of Genetics and Development, Cornell University, Ithaca, New York 14853 2703, USA
Mol Cell Biol 16:5604-15. 1996..In this study, the S. cerevisiae 109-kDa Msh2 and 140-kDa Msh6 proteins were cooverexpressed in S...
- Mismatch recognition-coupled stabilization of Msh2-Msh6 in an ATP-bound state at the initiation of DNA repairEdwin Antony
Wesleyan University, Molecular Biology and Biochemistry Department, 205 Hall Atwater Laboratories, Middletown, Connecticut 06459, USA
Biochemistry 42:7682-93. 2003Mismatch repair proteins correct errors in DNA via an ATP-driven process. In eukaryotes, the Msh2-Msh6 complex recognizes base pair mismatches and small insertion/deletions in DNA and initiates repair...
- Mechanism of cadmium-mediated inhibition of Msh2-Msh6 function in DNA mismatch repairMarkus Wieland
Molecular Biology and Biochemistry Department, Wesleyan University, Middletown Connecticut 06459, USA
Biochemistry 48:9492-502. 2009The observation that Cadmium (Cd(2+)) inhibits Msh2-Msh6, which is responsible for identifying base pair mismatches and other discrepancies in DNA, has led to the proposal that selective targeting of this protein and consequent ..
- The role of mismatch repair in the prevention of base pair mutations in Saccharomyces cerevisiaeM C Earley
Graduate Program in Genetics and Molecular Biology, Emory University, Atlanta, GA 30322, USA
Proc Natl Acad Sci U S A 95:15487-91. 1998..In Saccharomyces cerevisiae, the products of three genes homologous to Escherichia coli mutS-MSH2, MSH3, and MSH6-function in MMR by recognizing mispaired bases...
- A mutation in the MSH6 subunit of the Saccharomyces cerevisiae MSH2-MSH6 complex disrupts mismatch recognitionJ Bowers
Section of Genetics and Development, Cornell University, Ithaca, New York 14853 2703, USA
J Biol Chem 274:16115-25. 1999In yeast, MSH2 interacts with MSH6 to repair base pair mismatches and single nucleotide insertion/deletion mismatches and with MSH3 to recognize small loop insertion/deletion mismatches...
- EXO1 and MSH6 are high-copy suppressors of conditional mutations in the MSH2 mismatch repair gene of Saccharomyces cerevisiaeT Sokolsky
Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York 14853 2703, USA
Genetics 155:589-99. 2000..inviability of two mutants, msh2-L560S pol3-01 and msh2-L910P pol3-01, was suppressed by overexpression of EXO1 and MSH6, respectively...
- Heat-stable alkaline phosphatase. A putative tumor marker of head and neck squamous cell carcinomaM B Rassam
Department of Chemistry and Biochemistry, Saddam College of Medicine, Baghdad, Iraq
Acta Oncol 34:49-52. 1995Serum total alkaline phosphatase (AP) activity and heat-stable AP (HSAP) were investigated in patients with uncontrolled squamous cell carcinoma of the head and neck before and after treatment...
- Alkylation damage causes MMR-dependent chromosomal instability in vertebrate embryosHarma Feitsma
Hubrecht Institute, Royal Academy of Arts and Sciences and University Medical Centre Utrecht, Cancer Genomics Center, 3584 CT, Utrecht, The Netherlands
Nucleic Acids Res 36:4047-56. 2008..Consistent with the damage-sensing role of the MMR system, mutant embryos lacking the MMR enzyme MSH6 displayed lower lethality than wild-type embryos after exposure to ENU and MNU...
- Fibroblast growth factor-1 stimulation of quiescent NIH 3T3 cells increases G/T mismatch-binding protein expressionP J Donohue
Department of Molecular Biology, Holland Laboratory, American Red Cross, Rockville, MD 20855, USA
Biochem J 319:9-12. 1996..report that one of these genes, called FGF-regulated (FR)-3, is predicted to encode G/T mismatch-binding protein (GTBP), a component of the mammalian DNA mismatch correction system...
- Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteinsWalther J A A van den Broek
Department of Cell Biology, UMC Nijmegen, Nijmegen Center for Molecular Life Sciences, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Hum Mol Genet 11:191-8. 2002..In contrast, Msh6 deficiency resulted in a significant increase in the frequency of somatic expansions...
- Temozolomide- and fotemustine-induced apoptosis in human malignant melanoma cells: response related to MGMT, MMR, DSBs, and p53S C Naumann
Department of Toxicology, University of Mainz, Mainz, Germany
Br J Cancer 100:322-33. 2009..This was related to an impaired expression of MSH2 and MSH6. The cells were not cross-resistant to fotemustine...
- Purification and characterization of prolyl endopeptidase from the Pacific herring, Clupea pallasi, and its role in the activation of sperm motilityK Yoshida
Misaki Marine Biological Station, Graduate School of Science, University of Tokyo, Kanagawa, Japan
Dev Growth Differ 41:217-25. 1999..The enzyme activities increased in the presence of herring sperm-activating protein (HSAP). Among them a prolyl endopeptidase [EC. 3. 4. 21. 26] was purified to near homogeneity from herring testis...
- 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...
- Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutationsRichard H Scott
Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
Nat Clin Pract Oncol 4:130-4. 2007..Staining for MLH1 and MSH2 was normal but was absent for MSH6. Direct sequencing of MSH6 was performed in the proband and both parents...
- Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC)Johanne Geary
Department of Medical Genetics, St George s University of London, Cranmer Terrace, London SW17 0RE, UK
Fam Cancer 7:163-72. 2008..colorectal cancer (HNPCC) (caused by mutations in mismatch-repair (MMR) genes MSH2 (n = 64), MLH1 (n = 62) or MSH6 (n = 4)) were obtained, and incidence of cancers in those families was compared to that in the general population...
- Birt-Hogg-Dubé gene mutations in human endometrial carcinomas with microsatellite instabilityH Fujii
Department of Pathology II, Juntendo University School of Medicine, Tokyo, 113 8421 Japan
J Pathol 209:328-35. 2006..The poly(G)8 tract of the BAX gene, the poly(C)8 tract of MSH6, and methylation status of hMLH1 were also assessed. Thirty-nine of 139 cases (28%) showed MSI...
- 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..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...
- 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)...
- 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...
- Ovarian cancer at young age: the contribution of mismatch-repair defects in a population-based series of epithelial ovarian cancer before age 40K Domanska
Department of Oncology, Lund University Hospital, Lund, Sweden
Int J Gynecol Cancer 17:789-93. 2007..Immunostaining using antibodies against MLH1, PMS2, MSH2, and MSH6 was used to assess the mismatch-repair status and revealed loss of expression of MLH1/PMS2 in two cases, loss of ..
- 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..BAT26, D2S123, D5S346, and D17S250) and deficiency of MMR protein expression by immunohistochemistry (MLH1, MSH2, MSH6, and PMS2)...
- Rapid DNA double-strand breaks resulting from processing of Cr-DNA cross-links by both MutS dimersMindy F Reynolds
Department of Pathology, Laboratory Medicine, Brown University, Providence, Rhode Island 02912, USA
Cancer Res 69:1071-9. 2009..We found that MSH2-MSH6 (MutSalpha) dimer effectively bound DNA probes containing ascorbate-Cr-DNA and cysteine-Cr-DNA cross-links...
- 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...
- Molecular cloning of zebrafish (Danio rerio) MutS homolog 6(MSH6) and noncoordinate expression of MSH6 gene activity and G-T mismatch binding proteins in zebrafish larvaeFu Lung Yeh
Institute of Bioscience and Biotechnology, National Taiwan Ocean University, Keelung 20224, Taiwan, Republic of China
J Exp Zool A Comp Exp Biol 297:118-29. 2003Eukaryotic MutS homolog 6(MSH6) is a DNA mismatch recognition protein associated with mismatch repair of simple base-base mispairs and small insertion-deletion loops...
- 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..dominant disease with high penetrance, caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, PMS2 and MLH3...
- Role of the mismatch repair gene, Msh6, in suppressing genome instability and radiation-induced mutationsJulio Barrera-Oro
Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA
Mutat Res 642:74-9. 2008..Failure of this system can accelerate somatic mutation and increase the risk of developing cancer. MSH6, in complex with MSH2, is the MMR protein that mediates DNA repair through the recognition of 1- and 2-bp ..
- Isolation and characterization of new proliferating cell nuclear antigen (POL30) mutator mutants that are defective in DNA mismatch repairPatrick J Lau
Ludwig Institute for Cancer Research, Cancer Center, La Jolla, California 92093 0660, USA
Mol Cell Biol 22:6669-80. 2002..C81R) in the monomer-monomer interface region and resulted in a partial general MMR defect and a defect in MSH2-MSH6 binding in vitro...
- 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.
- Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinomaShan Run Liu
Department of Surgery, Peking University First Hospital, Beijing 100034, China
World J Gastroenterol 10:2647-51. 2004..been associated with germline mutations in five mismatch repair (MMR) genes (hMSH2, hMLH1, hPMS1, hPMS2, and hMSH6/GTBP). The great majority of germline mutations were found in hMSH2 and hMLH1...
- Repair of Oxidatively Damaged GuaninesA LIEN L LU-CHANG; Fiscal Year: 2013..To examine this hypothesis, we propose three specific aims: (1) The dynamic interaction of MYH with MSH2/MSH6 both in vitro and in vivo will be delineated...
- NEW HUMAN DNA REPAIR ENDONUCLEASEAlfonso Bellacosa; Fiscal Year: 2002..Colorectal Cancer (HNPCC) carry a germline mutation in genes involved in DNA mismatch repair (h MSH2, h MLH1, GTBP /hMSH6, hPMS2 and hPMS1). These genes encode human homologues of the E. coli mismatch repair proteins MutS and MutL...
- Mismatch repair in V region mutation and isotype switchingMatthew D Scharff; Fiscal Year: 2013..We will do this by: 1) determining how MSH6 and the other mismatch repair proteins interact with PCNA to recruit error prone repair to the immunoglobulin ..
- Sapna Syngal; Fiscal Year: 2016..by healthcare providers to estimate the probability that an individual carries a mutation in the MLH1, MSH2 and MSH6 mismatch repair (MMR) genes (Balmana et al. JAMA 2006, Kastrinos et. al Gastroenterology 2011)...
- Mechanistic studies of DNA repair and damage responseDorothy A Erie; Fiscal Year: 2010..The MutS homolog MSH2-MSH6 (MutS) binds preferentially to a DNA lesion and subsequently interacts with the MutL homolog MLH1-PMS2 (MLH1-PMS1 ..
- PCNA clamp mechanisms in DNA replication and repairManju M Hingorani; Fiscal Year: 2010..With respect to a PCNA target, we plan to investigate the mechanism of action of S. cerevisiae Msh2-Msh6, an essential DNA mismatch repair protein that detects base pair errors in DNA and initiates repair in a an ATP-..
- Polly A Newcomb; Fiscal Year: 2014..Participants have: (i) been tested for mutations in the mismatch repair genes (MLH1, MSH2, MSH6 and PMS2) and MUTYH, and measured for the single nucleotide polymorphisms (SNPs) known to be associated with CRC;(..
- Toward a molecular classification of human gliomasDavid N Louis; Fiscal Year: 2013..agent used to treat all glioblastomas, temozolomide (TMZ), through a mechanism associated with inactivation of MSH6;MSH6-deficient glioblastomas grow more rapidly during TMZ therapy;and in vitro resources exist to evaluate defects ..
- Screening Pretest for HNPCCJeremy Fields; Fiscal Year: 2007..Aim 5. To study the feasibility of incorporating analyses for less frequent MMR mutations (MSH6)...
- SEAN VAHRAM TAVTIGIAN; Fiscal Year: 2016..The most prominent high-risk colorectal cancer susceptibility genes, APC, MLH1, MSH2, MSH6, PMS2, and PTEN, were all discovered more than a decade ago...
- The Familial Colorectal Neoplasia Collaborative GroupSTEPHEN NORMAN THIBODEAU; Fiscal Year: 2011..characterization core by continuing tumor phenotyping, performing germline mutation analysis on MLH1, MSH2, and MSH6 for the entire C-CFR, and dispatching products to other CFR sites for characterization of somatic MLH1 methylation ..
- INHERITED MSH6 MUTATIONS IN DIVERSE COLORECTAL CANCERSSapna Syngal; Fiscal Year: 2004..Recently, inherited mutations in a fifth mismatch repair gene, MSH6, have been identified in colorectal cancer patients...
- FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUPNoralane Lindor; Fiscal Year: 2007..characterization core by\par continuing tumor phenotyping, performing germline mutation analysis on MLH1, MSH2, and MSH6 for the\par entire C-CFR, and dispatching products to other CFR sites for characterization of somatic MLH1 ..
- Molecular Genetics of Colorectal Cancer Progression in a Diverse Patient CohortBROOKE E SYLVESTER; Fiscal Year: 2011..MLH1, MSH2, MSH6 and PMS2 are proteins expressed by mismatch repair genes that are responsible for repairing nucleotide mispairs and ..
- The Colon Cancer Family Registry: HawaiiLoic Le Marchand; Fiscal Year: 2011..immunohistochemistry (IHC) for DNA mismatch repair (MMR) defect and testing for germ-line mutations in MLH1, MSH2, MSH6 and MYH for PHASE I samples. We have also enhanced the CFR data, especially with regard to diet and race/ethnicity...
- Function of the AID C terminus in Ig class switchingJANET M STAVNEZER; Fiscal Year: 2013..cooperatively with other enzymes involved in introducing DNA breaks into S regions, specifically UNG and Msh2-Msh6, and that this binding is dependent upon the AID C terminus...
- The Colon Cancer Family Registry: SeattlePolly A Newcomb; Fiscal Year: 2011..Core activities by submitting participant biospecimen samples for: screening for expression of MLH1, MSH2, and MSH6 proteins;MMR-mutation testing guided by the IHC results;MLH1 methylation testing;screening for selected mutations ..
- Winfried Edelmann; Fiscal Year: 2016..In new preliminary studies, we have modeled the pathogenic S144I HNPCC/LS mutation located in the MSH6-PWWP protein interaction domain, in knock-in mice...
- SEAN VAHRAM TAVTIGIAN; Fiscal Year: 2016..cancer syndrome, is caused by germline mutations in one of four DNA mismatch repair (MMR) genes- MLH1, MSH2, MSH6, and PMS2...
- The Colon Cancer Family Registry: USC ConsortiumROBERT WILLIAM HAILE; Fiscal Year: 2011..families already in the Colon CFR who carry a deleterious mutation in a mismatch repair (MMR) gene (MLH1, MSH2, or MSH6), which will enable more informative analyses of penetrance and risk factors among carriers...
- Fay Kastrinos; Fiscal Year: 2014..Lynch Syndrome: MMRpredict, MMRpro, and PREMM1,2,6 (prediction of mismatch repair gene mutations in MLH1, MSH2, and MSH6)...
- Anatoly Zhitkovich; Fiscal Year: 2016..The induction of DSB required a sequential recruitment of MSH6- and MSH3-containing complexes, indicating the unprecedented cooperation of both MMR branches in processing of Cr-..
- Ajay Goel; Fiscal Year: 2016..We will also look for evidence of methylation-induced silencing of the MSH2 and MSH6 genes, which also have CpG islands in their promoters, and should be susceptible to the same perturbation...
- Steven M Lipkin; Fiscal Year: 2014..These complexes interact with MSH2/MSH6 and MSH2/MSH6 heterodimers...
- Multiscale modeling of supramolecular protein-DNA assembliesMichael Feig; Fiscal Year: 2013..Applications focus on DNA mismatch recognition and initiation of repair by bacterial MutS and eukaryotic MSH2-MSH6 as well as transcription by yeast RNA polymerase II...
- DNA MISMATCH REPAIR IN EUKARYOTESSatya Prakash; Fiscal Year: 2003..We will examine the roles of the Msh2-Msh3, Msh2-Msh6, and Mlh1-Pms1 complexes in mismatch recognition and in subsequent steps of mismatch repair and will determine at ..
- The Role of Mismatch Repair Factors in Class Switch RecombinationERIK LARSON; Fiscal Year: 2009..clarifying the mechanism of class switch recombination by examining the role of the mismatch repair complex, MSH2/MSH6 (MutSalpha), in the pathway...
- PATHOPHYSIOLOGY OF PULMONARY SURFACTANTSikandar Katyal; Fiscal Year: 1991..Our recent results indicate that human SAP-A gene encodes both SAP-A and hydrophobic surfactant protein (HSAP). We have raised antisera to the hydrophobic proteins extracted from rat and human pulmonary surfactant...
- CRES GENE IN MALE REPRODUCTIONGail Cornwall; Fiscal Year: 1999..These studies will provide valuable information on a novel epididymal protein which may be important for sperm development and maturation. ..
- DEFECTIVE DNA MISMATCH REPAIR IN ENDOMETRIAL CANCERSPaul Goodfellow; Fiscal Year: 2009..We will also determine whether DMMR genes other than MSH2, MSH6 and MLH1 play significant roles in endometrial tumorigenesis...
- INTRACHROMOSOMAL RECOMBINATION IN MAMMALIAN CELLSROBERT LISKAY; Fiscal Year: 2009Mutation in any one of five human DNA mismatch repair (MMR )gene homologs, MSH2, MSH6,MLH1, PMS2 and PMS1, contributes to both hereditary and spontaneous cancers...
- Discovery of Novel Genetic Variants Causing Colorectal *Steven Lipkin; Fiscal Year: 2005..Because identifiable MLH1, MSH2 and MSH6 mutations in HNPCC underlie 2-5% of CRC patients, we hypothesize that more common susceptibility variants exist in ..
- Seattle Colorectal Cancer Family Registry (CFR)Polly Newcomb; Fiscal Year: 2007..Core activities by submitting participant biospecimen\par samples for: screening for expression of MLH1, MSH2, and MSH6 proteins; MMR-mutation testing guided by\par the IHC results; MLH1 methylation testing; screening for selected ..
- DNA REPAIR IN EUKARYOTESGRAY CROUSE; Fiscal Year: 2002..These studies focus on the yeast genes that are involved in nuclear mismatch repair: MSH2, MSH3 and MSH6. The products of these genes are responsible for the recognition of base distortions in the DNA and therefore begin ..
- PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATIONHenry Lynch; Fiscal Year: 2004....
- PREDISPOSING/MODIFYING GENES IN HEREDITARY COLON CANCERPaivi Peltomaki; Fiscal Year: 2001..The aim is to identify genes that might modify the clinical phenotype of HNPCC, taking advantage of association and linkage-based approaches in these genetically homogeneous subsets of HNPCC patients. ..
- Hypomorphic Mismatch Repair Gene Mutations and Single Molecular MSI AnalysesSteven Lipkin; Fiscal Year: 2007..SPECIFIC AIM 2: To Test Single-Molecule MSI as a Validation Assay for Additional Predicted MLH1/MSH2 deleterious alleles in MSS CRCs. [unreadable] [unreadable] [unreadable]..
- MOLECULAR ANALYSES OF MLH3 NULL MICESteven Lipkin; Fiscal Year: 2003..mismatch repair genes associated with microsatellite instability have previously been described: MLH1, MSH2, MSH3, MSH6, PMS1, and PMS2...
- Molecular Profiling to Predict Response to ChemotherapyJohnathan Lancaster; Fiscal Year: 2006..Ultimately, defining the biologic underpinnings of response to therapy will facilitate the development of more active agents that may improve cure rates for ovarian cancer. ..
- Ovarian Cancer and Mismatch Repair DeficiencyTuya Pal; Fiscal Year: 2009..MSI may result from both genetic (i.e.: germline mutations in the MMR genes, including MLH1, MSH2, and MSH6) and epigenetic (i.e.: MLH1 promoter hypermethylation) mechanisms...
- P21 INDUCTION BY BRCA2Fergus Couch; Fiscal Year: 2002....
- Molecul Biology of Intestinal Lipid Transport/MetabolismNICHOLAS DAVIDSON; Fiscal Year: 2003..abstract_text> ..
- ANTI MUTAGENIC MISMATCH REPAIR OF UV DAMAGED DNAJohn Hays; Fiscal Year: 2004..The abilities of MMR proteins to complete with NER proteins for mismatched- photoproduct substrates, thus preventing mutation-fixation by the latter, will also be tested. ..
- Insulin, the IGF Axis, and Colorectal NeoplasiaPaul Limburg; Fiscal Year: 2005..Following achievement of these goals, I am confident that I will be ready to continue my career as a successful independent investigator committed to academic research. ..
- Links between Mismatch Repair and ReplicationHernan Flores Rozas; Fiscal Year: 2005..cerevisiae and humans encode three MMR genes that are homologous to the E. 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...
- Repair of Oxidatively Damaged GuaninesA Lien Lu Chang; Fiscal Year: 2008..hypothesis, we propose the following specific aims: (1) The dynamic interactions of MYH with OGG1, NEIL1, and MSH2/MSH6 both in vitro and in vivo will be delineated...
- MECHANISTIC STUDIES OF DNA MISMATCH REPAIRA Lien Lu Chang; Fiscal Year: 2006..Particularly, alterations in protein-protein interactions under oxidative stress will be investigated. These studies should advance our understanding of the role of DNA repair in genome stability and tumor susceptibility. ..
- Characterization of the Chromosome 17q23 AmpliconFergus Couch; Fiscal Year: 2006..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
- Plasma Microarray Analysis and Ovarian Cancer BiomarkersJohnathan Lancaster; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- DNA Damage, Mutation and Cancer Gordon ConferenceJohn Hays; Fiscal Year: 2006..unreadable] [unreadable] [unreadable] [unreadable]..
- Gene expression profiles to predict ovarian cancer chemo-response in the elderlyJohnathan Lancaster; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- DNA Damage, Mutation & Cancer Gordon Research ConferenceJohn Hays; Fiscal Year: 2008..high-fidelity responses blocked replication forts. One will describe successive steps in pathways initiated by specific DNA lesions. [unreadable] [unreadable] [unreadable] [unreadable]..
- Molecular Epidemiology of Colorectal Cancer SubtypesPaul J Limburg; Fiscal Year: 2010....