MYH

Summary

Gene Symbol: MYH
Description: mutY DNA glycosylase
Alias: MYH, adenine DNA glycosylase, A/G-specific adenine DNA glycosylase, mutY homolog, mutY-like protein
Species: human

Top Publications

  1. ncbi Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair
    A Parker
    Department of Biochemistry and Molecular Biology, The University of Maryland, Baltimore, Maryland 21201, USA
    J Biol Chem 276:5547-55. 2001
  2. ncbi Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6
    Yesong Gu
    Department of Biochemistry, University of Maryland, Baltimore, Maryland 21201, USA
    J Biol Chem 277:11135-42. 2002
  3. pmc Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein
    J P McGoldrick
    Department of Biological Chemistry, School of Medicine, University of Maryland at Baltimore, 21201
    Mol Cell Biol 15:989-96. 1995
  4. ncbi Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations
    Sian Jones
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Hum Mol Genet 11:2961-7. 2002
  5. ncbi Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis
    Sylviane Olschwang
    INSERM, U599, Centre de Recherches en Cancérologie de Marseille, Molecular Oncology, Marseille, F 13009 France
    Genet Test 11:315-20. 2007
  6. doi Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3
    A R Dallosso
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Gut 57:1252-5. 2008
  7. doi APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas
    B Filipe
    Centro de Investigacao de Patobiologia Molecular CIPM, Patológica Instituto Português de Oncologia de Lisboa Francisco Gentil, EPE IPOLFG, EPE, 1099 023 Lisboa, Portugal
    Clin Genet 76:242-55. 2009
  8. doi Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis
    Vito G D'Agostino
    Department of Genetics and Microbiology, University of Pavia, Pavia, Italy
    DNA Repair (Amst) 9:700-7. 2010
  9. ncbi Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas
    Viviana Gismondi
    National Cancer Institute, Largo R Benzi 10, 16132 Genoa, Italy
    Int J Cancer 109:680-4. 2004
  10. ncbi Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase
    J Christopher Fromme
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138, USA
    Nature 427:652-6. 2004

Research Grants

  1. Repair of Oxidatively Damaged Guanines
    A LIEN L LU-CHANG; Fiscal Year: 2013
  2. Sapna Syngal; Fiscal Year: 2016
  3. POLYMORPHIC VARIANTS IN HUMAN MUTY
    AMANDA MCCULLOUGH; Fiscal Year: 2001
  4. NORALANE MOREY LINDOR; Fiscal Year: 2016
  5. SHEILA SUE DAVID; Fiscal Year: 2016
  6. Prevention of Genetic Instability by Pomegranate in Ogg1/Myh Deficient Mice
    Ramune Reliene; Fiscal Year: 2009
  7. Leona D Samson; Fiscal Year: 2014
  8. The Familial Colorectal Neoplasia Collaborative Group
    STEPHEN NORMAN THIBODEAU; Fiscal Year: 2011
  9. The Colon Cancer Family Registry: Hawaii
    Loic Le Marchand; Fiscal Year: 2011
  10. The Colon Cancer Family Registry: Seattle
    Polly A Newcomb; Fiscal Year: 2011

Detail Information

Publications199 found, 100 shown here

  1. ncbi Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair
    A Parker
    Department of Biochemistry and Molecular Biology, The University of Maryland, Baltimore, Maryland 21201, USA
    J Biol Chem 276:5547-55. 2001
    The human MutY homolog (hMYH) is a DNA glycosylase involved in the removal of adenines or 2-hydroxyadenines misincorporated with template guanines or 7,8-dihydro-8-oxodeoxyguanines...
  2. ncbi Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6
    Yesong Gu
    Department of Biochemistry, University of Maryland, Baltimore, Maryland 21201, USA
    J Biol Chem 277:11135-42. 2002
    ..The human MutY homolog (hMYH), a DNA glycosylase, removes adenines from these mismatches...
  3. pmc Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein
    J P McGoldrick
    Department of Biological Chemistry, School of Medicine, University of Maryland at Baltimore, 21201
    Mol Cell Biol 15:989-96. 1995
    A protein homologous to the Escherichia coli MutY protein, referred to as MYH, has been identified in nuclear extracts of calf thymus and human HeLa cells. Western blot (immunoblot) analysis using polyclonal antibodies to the E...
  4. ncbi Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations
    Sian Jones
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Hum Mol Genet 11:2961-7. 2002
    We have recently demonstrated that inherited defects of the base excision repair gene MYH predispose to multiple colorectal adenomas and carcinoma...
  5. ncbi Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis
    Sylviane Olschwang
    INSERM, U599, Centre de Recherches en Cancérologie de Marseille, Molecular Oncology, Marseille, F 13009 France
    Genet Test 11:315-20. 2007
    ..non-FAP non-HNPCC patients with multiple colorectal adenomas have been reported to carry germline mutations on the MYH gene...
  6. doi Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3
    A R Dallosso
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Gut 57:1252-5. 2008
    ..MUTYH functions in the DNA base excision repair pathway and has a key role in the repair of oxidative DNA damage...
  7. doi APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas
    B Filipe
    Centro de Investigacao de Patobiologia Molecular CIPM, Patológica Instituto Português de Oncologia de Lisboa Francisco Gentil, EPE IPOLFG, EPE, 1099 023 Lisboa, Portugal
    Clin Genet 76:242-55. 2009
    ..The phenotypes of the mutation-negative patients suggest distinct etiologies in these cases...
  8. doi Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis
    Vito G D'Agostino
    Department of Genetics and Microbiology, University of Pavia, Pavia, Italy
    DNA Repair (Amst) 9:700-7. 2010
    ..Our findings demonstrate that SPR analysis is suitable to identify defective enzymatic behaviour even when mutant proteins display minor alterations in substrate recognition...
  9. ncbi Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas
    Viviana Gismondi
    National Cancer Institute, Largo R Benzi 10, 16132 Genoa, Italy
    Int J Cancer 109:680-4. 2004
    Biallelic germline mutations in the base excision repair gene MYH have been reported in patients with multiple colorectal adenomas and cancer and in sporadic FAP patients not showing a detectable APC germline mutation...
  10. ncbi Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase
    J Christopher Fromme
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138, USA
    Nature 427:652-6. 2004
    ..The evolutionarily conserved enzyme adenine DNA glycosylase (called MutY in bacteria and hMYH in humans) initiates repair of A*oxoG to C*G by removing the ..
  11. pmc The role of MYH and microsatellite instability in the development of sporadic colorectal cancer
    A Colebatch
    Department of Medical Oncology, St Vincent s Hospital, Victoria Street, Darlinghurst, NSW 2010, Australia
    Br J Cancer 95:1239-43. 2006
    Biallelic germline mutations in MYH are associated with colorectal neoplasms, which develop through a pathway involving somatic inactivation of APC...
  12. pmc Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis
    Haibo Bai
    Department of Biochemistry and Molecular Biology, University of Maryland, Baltimore, MD 21201, USA
    Cancer Lett 250:74-81. 2007
    The MutY homolog (MYH) can excise adenines misincorporated opposite to guanines or 7,8-dihydro-8-oxo-guanines (8-oxoG) during DNA replication; thereby preventing G:C to T:A transversions...
  13. pmc Recently identified colon cancer predispositions: MYH and MSH6 mutations
    Fay 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 ..
  14. doi Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis
    Maartje Nielsen
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Gastroenterology 136:471-6. 2009
    ..Our goal was to establish correlations between genotypes and colorectal phenotype of patients with MAP...
  15. pmc Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8-oxoguanine DNA glycosylase
    M Takao
    Department of Molecular Genetics, Institute of Development, Aging and Cancer, Tohoku University, 4 1 Seiryo machi, Aoba ku, Sendai 980 8578, Japan
    Nucleic Acids Res 27:3638-44. 1999
    ..hMYH cDNA suppressed the mutator phenotype of E.coli mutY. In vitro expressed hMYH showed adenine DNA glycosylase activity toward the A:GO substrate...
  16. pmc Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria
    T Ohtsubo
    Department of Biochemistry, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
    Nucleic Acids Res 28:1355-64. 2000
    ..that these activities also co-purified with a 52 kDa polypeptide which reacted with antibodies against human MYH (anti-hMYH). Recombinant hMYH has essentially similar activities to the partially purified enzyme...
  17. ncbi Regulation of intracellular localization of human MTH1, OGG1, and MYH proteins for repair of oxidative DNA damage
    Y Nakabeppu
    Division of Neurofunctional Genomics, Medical Institute of Bioregulation, Kyushu University and CREST, Japan Science and Technology Corporation, Fukuoka, 812 8582, Japan
    Prog Nucleic Acid Res Mol Biol 68:75-94. 2001
    ..characterized expression and intracellular localization of 8-oxoG DNA glycosylase (hOGG1) and 2-OH-A/adenine DNA glycosylase (hMYH) in human cells...
  18. ncbi Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer
    Christina Fleischmann
    Section of Cancer Genetics, Institute of Cancer Research, Surrey, United Kingdom
    Int J Cancer 109:554-8. 2004
    Mutations in the base excision repair gene MYH have recently been shown to confer recessive susceptibility to colorectal adenomas and carcinomas...
  19. ncbi Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer
    Yawei Zhang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Rockville, Maryland, USA
    Cancer Epidemiol Biomarkers Prev 15:353-8. 2006
    ..6; 95% CI, 1.1-2.4; P = 0.02). In conclusion, our results do not support that the polymorphisms evaluated in six BER pathway genes play a major role in breast carcinogenesis, particularly in Caucasian populations...
  20. ncbi The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers
    Sebastien Kury
    Laboratoire d Etude de l ADN, Faculté de Médecine de Nantes, 44035 France
    Genet Test 11:373-9. 2007
    ..26, 95% confidence interval [CI] 0.70-2.27). As a result, we conclude that heterozygous MUTYH mutations do not play a major role in sporadic colorectal carcinogenesis although a modest effect on this process cannot be ruled out...
  21. doi Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population
    Hong Tao
    First Department of Pathology, Hamamatsu University School of Medicine, 1 20 1 Handayama, Higashi ku, Hamamatsu 431 3192, Japan
    Cancer Sci 99:355-60. 2008
    ..The results indicated that Japanese individuals with - 280A/IVS1+11T/1389C genotypes or the TGAC haplotype are susceptible to CRC...
  22. ncbi Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer
    Frank Grunhage
    Department of Internal Medicine I, University Hospital Bonn, University of Bonn, Bonn, Germany
    Cancer Biomark 4:55-61. 2008
    ..Our aim was to determine the frequency of the most common mutations (p.Tyr165Cys and p.Gly382Asp) in patients with strong evidence for familial colorectal cancer (fCRC)...
  23. pmc Pathological features of colorectal carcinomas in MYH-associated polyposis
    A M O'Shea
    Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada
    Histopathology 53:184-94. 2008
    b>MYH is a DNA glycosylase in the base excision repair pathway. Germ-line biallelic mutations in the MYH gene are associated with the development of multiple colorectal adenomas and colorectal carcinoma (CRC)...
  24. pmc Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
    Nuria Gómez-Fernández
    Fundacion Publica Galega de Medicina Xenomica, Grupo de Medicina Xenómica USC, CIBERER, Santiago de Compostela, Galicia, Spain
    BMC Med Genet 10:57. 2009
    ..The aim of this work is therefore to determine the frequency of APC and MUTYH mutations among FAP families from two Spanish populations...
  25. doi Clinical implications of the colorectal cancer risk associated with MUTYH mutation
    Steven J Lubbe
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    J Clin Oncol 27:3975-80. 2009
    ..Precise quantification of the CRC risk and the phenotype associated with MUTYH mutations is relevant to the counseling, surveillance, and clinical management of at-risk individuals...
  26. doi Common variants in human CRC genes as low-risk alleles
    Simone Picelli
    Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden
    Eur J Cancer 46:1041-8. 2010
    ..76 (CI=0.60-0.97) among colon patients and 0.73 (CI=0.56-0.95) among rectal patients. In conclusion, our study suggests that common variants in human CRC genes could constitute low-risk alleles...
  27. doi MUTYH-associated polyposis (MAP)
    Maartje Nielsen
    Department Clinical Genetics, Leiden University Medical Centre, Albinusdreef, Leiden, The Netherlands
    Crit Rev Oncol Hematol 79:1-16. 2011
    ..Furthermore, the relationship between MUTYH and the mismatch repair genes in colorectal cancer (CRC) families is examined. Finally, the role of other base excision repair genes in polyposis and CRC patients is discussed...
  28. doi Leiden Open Variation Database of the MUTYH gene
    Astrid A Out
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 31:1205-15. 2010
    ..This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance...
  29. doi AluYb8 insertion in the MUTYH gene is related to increased 8-OHdG in genomic DNA and could be a risk factor for type 2 diabetes in a Chinese population
    Huimei Chen
    Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China Jiangsu Key Lab of Molecular Medicine, Nanjing University, Nanjing, China
    Mol Cell Endocrinol 332:301-5. 2011
    ..3 in homozygotes with the variation (P < 0.001, compared with the wild-type). Therefore, the AluYb8MUTYH polymorphism could be a novel genetic risk factor for T2DM, and accumulated 8-OHdG could contribute to this disease...
  30. doi Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer
    Takashi Kuno
    Division of Lower Gastroenterology, Department of Surgery, Hyogo College of Medicine, Nishinomiya, Japan
    Oncol Rep 28:473-80. 2012
    ..However, it is possible that unknown mutations of regions not analyzed in this study and epigenetic changes of the promoter region of MUTYH may contribute to the disease...
  31. pmc Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage
    M Takao
    Department of Molecular Genetics, Institute of Development, Aging and Cancer, Tohoku University, 4 1 Seiryo machi, Aoba ku, Sendai 980 77, Japan
    Nucleic Acids Res 26:2917-22. 1998
    ..These results suggest that the previously observed removal of oxidative base lesions in mitochondrial DNA is initiated by the above DNA glycosylases...
  32. ncbi Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors
    Nada Al-Tassan
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Nat Genet 30:227-32. 2002
    ..Analysis of the human homolog of mutY, MYH, showed that the siblings were compound heterozygotes for the nonconservative missense variants Tyr165Cys and ..
  33. ncbi A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts
    Satoru Yamaguchi
    Biology Division, National Cancer Center Research Institute, Tokyo, Japan
    Genes Cells 7:461-74. 2002
    Adenine paired with 8-hydroxyguanine, a major oxidatively damaged DNA lesion, is excised by mutY homologue (MYH) base excision repair protein in human cells...
  34. ncbi Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    Oliver M Sieber
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London, United Kingdom
    N Engl J Med 348:791-9. 2003
    Germ-line mutations in the base-excision-repair gene MYH have been associated with recessive inheritance of multiple colorectal adenomas...
  35. pmc Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers
    Sarah E R Halford
    Molecular and Population Genetics Laboratory, London Institute, Cancer Research United Kingdom, London, UK
    Am J Pathol 162:1545-8. 2003
    b>MYH-associated polyposis is a recently described, autosomal recessive condition comprising multiple colorectal adenomas and cancer. This disease is caused by germline mutations in the base excision repair (BER) gene MYH...
  36. ncbi Suppressive activities of OGG1 and MYH proteins against G:C to T:A mutations caused by 8-hydroxyguanine but not by benzo[a]pyrene diol epoxide in human cells in vivo
    Arito Yamane
    Biology Division, National Cancer Center Research Institute, 1 1 Tsukiji 5 chome, Chuo Ku, Tokyo, Japan
    Carcinogenesis 24:1031-7. 2003
    ..In this study, we assessed the abilities of OGG1, MYH and APE1 proteins, which are components of a base excision repair pathway, to suppress G:C to T:A transversions ..
  37. ncbi Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    Julian R Sampson
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Lancet 362:39-41. 2003
    ..Molecular genetic analysis showed that 25 had biallelic mutations of the MYH gene...
  38. ncbi Role of inherited defects of MYH in the development of sporadic colorectal cancer
    Takeshi Kambara
    Conjoint Gastroenterology Laboratory, Royal Brisbane and Women s Hospital Research Foundation and Queensland Institute of Medical Research, Brisbane, Australia
    Genes Chromosomes Cancer 40:1-9. 2004
    Biallelic germ-line variants of the 8-hydroxyguanine repair gene MYH have been associated with multiple colorectal adenomas that display somatic G:C-->T:A transversions in APC...
  39. ncbi High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis
    Tiziana Venesio
    Unit of Pathology, Imnstitute for Cancer Research and Treatment, Candiolo Torino, Italy
    Gastroenterology 126:1681-5. 2004
    ..Recently, germline mutations in the base excision repair gene MYH have been associated with a recessively inherited form of the disease...
  40. ncbi MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
    Liang Wang
    Department of Laboratory Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Gastroenterology 127:9-16. 2004
    b>MYH-associated polyposis is a recently described disease that is characterized by multiple colorectal adenomas and a recessive pattern of inheritance...
  41. ncbi Genetic alterations of the MYH gene in gastric cancer
    Chang Jae Kim
    Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo Dong, Seocho Gu, Seoul 137 701, Korea
    Oncogene 23:6820-2. 2004
    ..We have screened a set of 95 sporadic gastric cancers for mutations and allele loss of the DNA glycosylase MYH gene, which excises adenine misincorporated opposite unrepaired 8-oxoG...
  42. ncbi Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas
    Glória Isidro
    Instituto Nacional de Saude Dr Ricardo Jorge, Centro de Genética Humana, Lisboa, Portugal
    Hum Mutat 24:353-4. 2004
    Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer...
  43. ncbi Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients
    I J Kim
    Korean Hereditary Tumor Registry, Cancer Research Institute and Cancer Research Center, Seoul National University, Seoul, Korea
    Hum Genet 115:498-503. 2004
    b>MYH, OGG1 and MTH1 are members of base excision repair (BER) families, and MYH germline mutations were recently identified in patients with multiple adenomas or familial adenomatous polyposis (FAP)...
  44. pmc The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients
    K Eliason
    J Med Genet 42:95-6. 2005
  45. pmc Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis
    Haibo Bai
    Department of Biochemistry and Molecular Biology, University of Maryland Baltimore, MD, USA
    Nucleic Acids Res 33:597-604. 2005
    The base excision repair DNA glycosylase MutY homolog (MYH) is responsible for removing adenines misincorporated into DNA opposite guanine or 7,8-dihydro-8-oxo-guanine (8-oxoG), thereby preventing G:C to T:A mutations...
  46. ncbi A kindred with MYH-associated polyposis and pilomatricomas
    Silvana Baglioni
    Department of Clinical Pathophysiology, Section of Medical Genetics, University of Florence, Florence, Italy
    Am J Med Genet A 134:212-4. 2005
    b>MYH-associated polyposis (MAP) is a recently described autosomal recessive form of familial adenomatous polyposis (FAP) associated with susceptibility to colorectal carcinoma (CRC)...
  47. ncbi Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations
    Carla F Kairupan
    Discipline of Medical Genetics, School of Biomedical Sciences, Faculty of Health, University of Newcastle and the Hunter Medical Research Institute, Newcastle, Australia
    Int J Cancer 116:73-7. 2005
    The MYH gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis. Two common mutations in the MYH gene have been identified that lend themselves to rapid screening...
  48. ncbi Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas
    Michiko Miyaki
    Hereditary Tumor Research Project, Tokyo Metropolitan Komagome Hospital, 3 18 22 Honkomagome, Tokyo 113 8677, Japan
    Mutat Res 578:430-3. 2005
    Germline mutations of the MYH gene have been revealed to associate with the recessive inheritance of multiple colorectal adenomas in Caucasian population. However, MYH mutations in Japanese patients have not yet been clarified...
  49. pmc Germline susceptibility to colorectal cancer due to base-excision repair gene defects
    Susan M Farrington
    Colon Cancer Genetics Group, School of Clinical and Molecular Medicine, University of Edinburgh, United Kingdom
    Am J Hum Genet 77:112-9. 2005
    ..These findings have clinical relevance for BER gene testing for patients with colorectal cancer and for genetic counseling of their relatives...
  50. ncbi MutYH (MYH) and colorectal cancer
    J R Sampson
    Department of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 XN, UK
    Biochem Soc Trans 33:679-83. 2005
    ..MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the adenomatous ..
  51. ncbi Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients
    Anna M Russell
    Research Group Human Genetics, Division of Medical Genetics, Center for Biomedicine, University of Basel, Basel, Switzerland
    Int J Cancer 118:1937-40. 2006
    ..Recently, biallelic mutations in the base excision repair gene MYH have been shown to predispose to a multiple adenoma and carcinoma phenotype...
  52. ncbi 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
    ..002) and the published controls (P = 0.001). These results warrant further study to test the hypothesis of mutations in MMR genes (in particular MSH6) and MUTYH acting together to increase cancer risk...
  53. ncbi MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype
    Stefan Aretz
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Int J Cancer 119:807-14. 2006
    ..described autosomal recessive MUTYH-associated polyposis (MAP), we performed a systematic search for MUTYH (MYH) mutations by sequencing the complete coding region of the gene in 329 unselected APC mutation-negative index ..
  54. ncbi Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer
    Victor Moreno
    Institut d Investigacio Biomedica de Bellvitge, Institut Catala d Oncologia, Hospitalet, Barcelona, Spain
    Clin Cancer Res 12:2101-8. 2006
    ..We have undertaken a comprehensive study of common polymorphisms in genes of DNA repair, exploring both the risk of developing colorectal cancer and the prognosis of patients...
  55. ncbi Up-regulation of hMUTYH, a DNA repair enzyme, in the mitochondria of substantia nigra in Parkinson's disease
    Takeo Arai
    Department of Neurology, Juntendo University School of Medicine, Bunkyo ku, Tokyo, 113 8421, Japan
    Acta Neuropathol 112:139-45. 2006
    ..The human MutY homolog (hMUTYH) which removes misincorporated adenine opposite 8-oxoG in DNA functions in post-replication, and is ..
  56. ncbi Increased frequency of disease-causing MYH mutations in colon cancer families
    Paolo Peterlongo
    Cell Biology Program, Memorial Sloan Kettering Cancer Center New York, NY, USA
    Carcinogenesis 27:2243-9. 2006
    ..Hypothetically, mono-allelic MYH mutations could contribute to the risk of CRC in these families...
  57. ncbi Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis
    Sophie Lejeune
    Service de génétique clinique, Hopital J de Flandre
    Hum Mutat 27:1064. 2006
    ..Our data suggest that genetic testing of MUTYH may be of interest in patients with pedigrees apparently compatible with autosomal recessive as well as dominant inheritance...
  58. ncbi Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis
    M Nielsen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Clin Genet 71:427-33. 2007
    ....
  59. ncbi Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics
    Guillaume Bouguen
    Service des Maladies de l Appareil digestif, Centre Hospitalier Universitaire Pontchaillou, 2 rue Henri Le Guilloux, Rennes, France
    Dis Colon Rectum 50:1612-7. 2007
    ..literature reports that several digestive diseases are associated with mutations in the base excision repair gene MYH. This study was designed to establish the prevalence of germ-line MYH mutations in a series of 56 consecutive ..
  60. ncbi Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas
    Duck Woo Kim
    Korean Hereditary Tumor Registry, Cancer Research Institute and Cancer Research Center, Seoul National University, Chongno Gu, Seoul, South Korea
    Int J Colorectal Dis 22:1173-8. 2007
    Most investigations on MutY human homolog (MYH)-associated polyposis (MAP) have been conducted in Western countries. Limited data on MAP in Asia are currently available...
  61. ncbi Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer
    R A Barnetson
    Colon Cancer Genetics Group, University of Edinburgh Cancer Research Centre and MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Clin Genet 72:551-5. 2007
    Germline mutations in the base excision repair gene, MutY human homolog (MYH), have recently been associated with a recessively inherited multiple adenoma polyposis syndrome and colorectal cancer...
  62. doi Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue
    Marjo van Puijenbroek
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    Clin Cancer Res 14:139-42. 2008
    ..To assess the feasibility of identifying patients with (atypical) MUTYH-associated polyposis (MAP) by KRAS2 c.34G > T prescreening followed by MUTYH hotspot mutation analysis in formalin-fixed paraffin-embedded tissue (FFPE)...
  63. doi The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing
    Douglas L Riegert-Johnson
    Department of Gastroenterology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Genet Test 11:361-5. 2007
    ..Thus, MUTYH mutation testing may be a reasonable cascade test in early onset CRC found to have proficient DNA mismatch repair, regardless of pattern of family history or number of polyps...
  64. doi Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis
    R Yanaru-Fujisawa
    Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Clin Genet 73:545-53. 2008
    ..Homozygous MUTYH mutation accounts for approximately 10% of Japanese patients with adenomatous polyposis. G272E may be one of the mutations specific to patients with adenomatous polyposis in East Asia...
  65. doi Mutations of the MYH gene do not substantially contribute to the risk of breast cancer
    Mario E Beiner
    Women s College Research Institute, Women s College Hospital, 790 Bay Street, 7th Floor, Toronto, ON, Canada M5G 1N8
    Breast Cancer Res Treat 114:575-8. 2009
    To explore whether or not there is an association between the presence of either of the germline mutations in the MutY human homologue (MYH) gene (Y165C and G382D) and the risk of breast cancer.
  66. doi The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle
    Alessandra Avezzù
    Oncologia Sperimentale 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy
    Cancer Lett 268:308-13. 2008
    Biallelic germline mutations in the MYH gene cause MYH-Associated Polyposis but patients with a single mutation possibly have an increased colorectal cancer (CRC) risk...
  67. pmc Characterization of mutant MUTYH proteins associated with familial colorectal cancer
    Mohsin Ali
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    Gastroenterology 135:499-507. 2008
    ..The aim of this study was to characterize the functional activity of mutant-MUTYH and single-nucleotide polymorphism (SNP)-MUTYH proteins involving familial colorectal cancer...
  68. pmc Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population
    Mayumi Kasahara
    Faculty of Health Sciences, Kobe University Graduate School of Medicine, Kobe, Japan
    J Exp Clin Cancer Res 27:49. 2008
    ..Genetic polymorphisms of DNA repair enzymes may lead to genetic instability and colorectal cancer carcinogenesis. Our objective was to measure the interactions between polymorphisms of repair genes and tobacco smoking in colorectal cancer...
  69. pmc Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study
    Sean P Cleary
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Department of Public Health Sciences, University of Toronto, Toronto, Ontario, Canada
    Gastroenterology 136:1251-60. 2009
    The MutY human homologue (MYH) gene is a member of the base-excision repair pathway involved in the repair of oxidative DNA damage...
  70. doi Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH
    Natalie Jones
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom
    Gastroenterology 137:489-94, 494.e1; quiz 725-6. 2009
    ..We performed a retrospective study of cancer incidence and causes of death among obligate MUTYH heterozygote individuals...
  71. pmc Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma
    Monika Forsbring
    Institute of Medical Microbiology, Rikshospitalet University Hospital HF and Centre for Molecular Biology and Neuroscience, University of Oslo, Oslo, Norway
    Carcinogenesis 30:1147-54. 2009
    ..The hMYH R260Q mutant had severe defect in adenine DNA glycosylase activity, whereas hMYH H434D could excise adenines from A:8oxoG pairs but not from A:G mispairs...
  72. pmc Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
    Maartje Nielsen
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    BMC Cancer 9:184. 2009
    ....
  73. doi Expanded extracolonic tumor spectrum in MUTYH-associated polyposis
    Stefanie Vogt
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Gastroenterology 137:1976-85.e1-10. 2009
    ..MUTYH-associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic manifestations has been reported...
  74. pmc Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer
    Sucharita Kundu
    Department of Chemistry, University of California Davis, One Shields Avenue, Davis, CA 95616, USA
    DNA Repair (Amst) 8:1400-10. 2009
    ..This suggests that the consequences of a specific amino acid variation on overall repair in a cellular context may be magnified...
  75. doi A common mutation of the MYH gene is associated with increased DNA oxidation and age-related diseases
    Caixia Sun
    Department of Medical Genetics, Nanjing University School of Medicine, Nanjing 210093, China Jiangsu Key Laboratory of Molecular Medicine, Nanjing, China
    Free Radic Biol Med 48:430-6. 2010
    We describe a common mutation of the MYH gene, which is involved in the repair of oxidative damage to DNA, and its relationship to age, levels of 8-OHdG, and circulating levels of interleukin-1...
  76. doi MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay
    Sara Molatore
    Department of Genetics and Microbiology, University of Pavia, Pavia, Italy
    Hum Mutat 31:159-66. 2010
    ..Our cell-based assay can provide useful information on the significance of MUTYH variants, improving molecular diagnosis and genetic counseling in families with mutations of uncertain pathogenicity...
  77. pmc Simplifying the detection of MUTYH mutations by high resolution melting analysis
    Isabel López-Villar
    Department of Molecular Biology, 12 de Octubre University Hospital, Madrid, E 28041, Spain
    BMC Cancer 10:408. 2010
    ..Therefore, we applied HRM to show effectiveness in detecting homozygous mutations for these clinically important and frequent patients...
  78. pmc Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer
    Masanori Goto
    First Department of Pathology, Hamamatsu University School of Medicine, Japan
    Hum Mutat 31:E1861-74. 2010
    ..The adenine DNA glycosylase activity of the p.I195V protein, p.G368D protein, p.M255V protein, and p.Y151C protein was 66.9%, 15...
  79. doi Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study
    B Rivera
    Centro de Investigaciones Biomédicas en Red de Enfermedades Raras CIBERER, Valencia, Spain
    Ann Oncol 22:903-9. 2011
    ..Classical familial adenomatous polyposis (FAP) is characterized by the appearance of >100 colorectal adenomas...
  80. pmc A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants
    E Theodoratou
    Colon Cancer Genetics Group and Academic Coloproctology, MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
    Br J Cancer 103:1875-84. 2010
    ..We report a large collaborative meta-analysis to assess and refine CRC risk estimates associated with bi-allelic and mono-allelic MUTYH variants and investigate age and sex influence on risk...
  81. ncbi Common genetic variants of MUTYH are not associated with cutaneous malignant melanoma: application of molecular screening by means of high-resolution melting technique in a pilot case-control study
    Concetta Santonocito
    Laboratory of Clinical Molecular Diagnostics, Institute of Biochemistry and Clinical Biochemistry Catholic University, Rome, Italy
    Int J Biol Markers 26:37-42. 2011
    ..Further studies are necessary for the assessment of MUTYH not only in melanoma but also other cancer types with the same embryonic origin, in the context of larger arrays studies of genes involved in DNA stability or integrity...
  82. doi Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil
    Carlos E Pitroski
    Laboratorio de Medicina Genómica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre HCPA, Porto Alegre, Brazil
    Int J Colorectal Dis 26:841-6. 2011
    ..The aim of this study was to assess the frequency of the germline MUTYH mutations p.Y179C and p.G396D in Brazilian patients with MAP and other hereditary colorectal cancer (CRC) phenotypes, as well as in sporadic CRC cases...
  83. doi Knock-down of human MutY homolog (hMYH) decreases phosphorylation of checkpoint kinase 1 (Chk1) induced by hydroxyurea and UV treatment
    Soo Hyun Hahm
    Department of Advanced Technology Fusion, Konkuk University, Seoul, Korea
    BMB Rep 44:352-7. 2011
    The effect of human MutY homolog (hMYH) on the activation of checkpoint proteins in response to hydroxyurea (HU) and ultraviolet (UV) treatment was investigated in hMYH-disrupted HEK293 cells...
  84. doi Reduced expression of MUTYH with suppressive activity against mutations caused by 8-hydroxyguanine is a novel predictor of a poor prognosis in human gastric cancer
    Kazuya Shinmura
    1st Department of Pathology, Hamamatsu University School of Medicine, Hamamatsu, Japan
    J Pathol 225:414-23. 2011
    ..These results suggested that MUTYH is a suppressor of mutations caused by 8OHG in gastric cells and that its reduced expression is associated with a poor prognosis in gastric cancer...
  85. pmc Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report
    Giovana T Torrezan
    International Center of Research and Training CIPE, A, C, Camargo Hospital, Sao Paulo, SP, Brazil
    BMC Med Genet 12:128. 2011
    ..Most MUTYH pathogenic variants are missense mutations, and until recently no gross genomic deletions had been described...
  86. doi MUTYH gene expression and alternative splicing in controls and polyposis patients
    Guido Plotz
    Biomedical Research Laboratory, Medizinische Klinik 1, Klinik der Johann Wolfgang Goethe Universität, Theodor Stern Kai 7, Frankfurt, Germany
    Hum Mutat 33:1067-74. 2012
    ..Since this alteration decreases protein production of the gene, an increased cancer risk for compound heterozygous carriers is possible...
  87. pmc Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis
    Kazuya Shinmura
    Department of Tumor Pathology, Hamamatsu University School of Medicine, Shizuoka 431 3192, Japan
    World J Gastroenterol 18:6935-42. 2012
    ..To investigate the suppressive activity of MUTYH variant proteins against mutations caused by oxidative lesion, 8-hydroxyguanine (8OHG), in human cells...
  88. pmc Association of MUTYH and colorectal cancer
    A Tenesa
    Colon Cancer Genetics Group, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK
    Br J Cancer 95:239-42. 2006
    ..This study underscores the need for large sample sizes in order to identify small gene effects when the disease allele frequency is low...
  89. ncbi The multiple colorectal adenoma phenotype and MYH, a base excision repair gene
    Lara Lipton
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London, United Kingdom
    Clin Gastroenterol Hepatol 2:633-8. 2004
    We summarize the genetic and clinical features of the colorectal adenomas and cancers that occur in MYH-associated polyposis (MAP). MAP results from biallelic germline mutations in the base excision repair gene, mutY homologue (MYH)...
  90. ncbi Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
    Marina E Croitoru
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada
    J Natl Cancer Inst 96:1631-4. 2004
    The MutY human homologue (MYH) gene encodes a member of the base excision repair pathway that is involved in repairing oxidative damage to DNA...
  91. pmc Familial adenomatous polyposis
    Elizabeth Half
    Familial Cancer Clinic, Gastroenterology Dept, Meir Hospital, Kfar Saba, Israel
    Orphanet J Rare Dis 4:22. 2009
    ..Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program...
  92. pmc A functional analysis of the DNA glycosylase activity of mouse MUTYH protein excising 2-hydroxyadenine opposite guanine in DNA
    Yasuhiro Ushijima
    Division of Neurofunctional Genomics, Department of Immunobiology and Neuroscience, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812 8582, Japan
    Nucleic Acids Res 33:672-82. 2005
    ....
  93. ncbi 8-Oxoguanine DNA glycosylase and MutY homolog are involved in the incision of arsenite-induced DNA adducts
    Yeong Shiau Pu
    Department of Urology, National Taiwan University College of Medicine, Taipei 10002, Taiwan, ROC
    Toxicol Sci 95:376-82. 2007
    ..Immunodepletion of the NE with antibody against 8-oxoguanine DNA glycosylase (OGG1) or MutY homolog (MYH) decreased the incision of As(2)O(3)-induced adducts, while antibodies against XPA, XPB, XPD, XPF, or XPG, ..
  94. ncbi APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations
    Tiziana Venesio
    Unit of Pathology, Institute for Cancer Research and Treatment, Candiolo Torino, Genova, Italy
    Lab Invest 83:1859-66. 2003
    ..Very recently, germline mutations in the base-excision repair gene MYH have been associated with recessive inheritance of multiple colorectal adenomas in a subset of patients...
  95. ncbi Balance between endoscopic and genetic information in the choice of ileorectal anastomosis for familial adenomatous polyposis
    Rosa Valanzano
    Dipartimento di Fisiopatologia Clinica, Unità di Chirurgia, Universita degli Studi di Firenze, Firenze, Italy
    J Surg Oncol 95:28-33. 2007
    ..The aim of this study is to assess the utility of the APC mutation screening compared to the degree of the rectal polyposis in surgical decision making...
  96. ncbi First genetic analysis in Tunisian familial adenomatous polyposis probands
    Karim Bougatef
    Laboratoire de Genetique, Immunologie et Pathologies Humaines, Faculte des Sciences de Tunis, Tunis 2092, Tunisia
    Oncol Rep 19:1213-8. 2008
    ..It has been shown that biallelic germline mutations in the base-excision-repair gene MYH can be responsible for a recessive inheritance of adenomatous polyposis (AP)...
  97. ncbi A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history
    Brindusa Truta
    Department of Medicine, Division of Gastroenterology and the Comprehensive Cancer Center, University of California San Francisco, 2330 Post Street, San Francisco, CA 94115 1623, USA
    Fam Cancer 4:127-33. 2005
    ..We studied the phenotype and genotype of adenomatous polyposis in patients without a family history...
  98. ncbi Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred
    M Plasilova
    Research Group Human Genetics, Division of Medical Genetics, University Children s Hospital, Department of Research and Clinico Biological Sciences, Vesalgasse1, 4031 Basel, Switzerland
    Eur J Hum Genet 12:365-71. 2004
    ..Recently, germline mutations in the base-excision repair gene MYH (1p33-34) have been described in patients with multiple adenomas, pointing to a possible role as disease modifier ..
  99. ncbi Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients
    Tiziana Venesio
    Unit of Pathology, Institute for Cancer Research and Treatment IRCC, Strada Provinciale 142, 10060, Candiolo, Torino, Italy
    J Mol Med (Berl) 85:305-12. 2007
    ..The disease has been linked to constitutive mutations of either APC tumor suppressor gene, or less frequently, MYH base-excision repair gene...
  100. doi Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    H F A Vasen
    Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands
    Gut 57:704-13. 2008
    ..The guidelines described herein may be helpful in the appropriate management of FAP families. In order to improve the care of these families further, prospective controlled studies should be undertaken...
  101. doi Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas
    Duncan Azzopardi
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
    Cancer Res 68:358-63. 2008
    ..These data suggest that multiple rare nonsynonymous variants in APC play a significant role in predisposing to CRAs...

Research Grants31

  1. Repair of Oxidatively Damaged Guanines
    A LIEN L LU-CHANG; Fiscal Year: 2013
    ..We focus on the role of human MutY homolog (hMYH) glycosylase and its interactions with cell cycle and aging regulators...
  2. Sapna Syngal; Fiscal Year: 2016
    ..JAMA 2012) which predicts the likelihood of an individual carrying a germline mutation in the APC and MYH genes, related to Familial Adenomatous Polyposis and MYH-Associated Polyposis...
  3. POLYMORPHIC VARIANTS IN HUMAN MUTY
    AMANDA MCCULLOUGH; Fiscal Year: 2001
    ..The human MutY homolog, hMYH, has been cloned and potential polymorphic variants identified...
  4. NORALANE MOREY LINDOR; Fiscal Year: 2016
    ..genotyping, where indicated, participants for known familial mutations in DNA mismatch repair genes and MYH;and (iv) genotyping all participants who have not yet been genotyped for 16 SNPs discovered and validated by GWAS...
  5. SHEILA SUE DAVID; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): E. coli MutY and its human homologue (MUTYH, formerly MYH) play an important role in the prevention of mutations associated with 8-oxo-7,8-dihydro-2'-deoxyguanosine (OG) by removal of ..
  6. Prevention of Genetic Instability by Pomegranate in Ogg1/Myh Deficient Mice
    Ramune Reliene; Fiscal Year: 2009
    ..For example, alterations in OGG1 and MYH genes are associated with elevated risk of colorectal, lung, kidney and bladder cancer...
  7. Leona D Samson; Fiscal Year: 2014
    ..response by examining mice deficient in one (or more) of numerous DNA repair proteins (Aag, Abh2, Abh3, Myh, Ogg1, and Mbd4)...
  8. The Familial Colorectal Neoplasia Collaborative Group
    STEPHEN NORMAN THIBODEAU; Fiscal Year: 2011
    ..products to other CFR sites for characterization of somatic MLH1 methylation and BRAF analysis, germline PMS2 and MYH mutations;7) maintain local bioinformatics and data transmissions;8) maintain necessary administrative core to ..
  9. The Colon Cancer Family Registry: Hawaii
    Loic Le Marchand; Fiscal Year: 2011
    ..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...
  10. The Colon Cancer Family Registry: Seattle
    Polly A Newcomb; Fiscal Year: 2011
    ..in Amsterdam families who do not have evidence of an MMR defect, we will enroll families who carry an MMR or MYH mutation and families who meet the Amsterdam criteria without evidence of an MMR mutation (n=80)...
  11. Polly A Newcomb; Fiscal Year: 2014
    ..Our model is timely and offers the potential to change clinical practice and direct public health initiatives by moving resources to those people more likely to benefit from specific surveillance protocols or genetic tests. ..
  12. The Colon Cancer Family Registry: USC Consortium
    ROBERT WILLIAM HAILE; Fiscal Year: 2011
    ..the USC Consortium;2) Recruit through the Cleveland Clinic (CCF) 97 additional families who either carry an MMR or MYH mutation or meet Amsterdam I or II criteria...
  13. The Colon Cancer Family Registry: Ontario
    Steven Gallinger; Fiscal Year: 2011
    ..Other unique contributions of the OFCCR to the Colon CFR include;germline MYH mutation testing of all Colon CFR cases and controls and the first genome wide association study in CRC that ..
  14. The Colon Cancer Family Registry: Australasia
    John L Hopper; Fiscal Year: 2011
    ..to be identified during Phase III, to carry deleterious mutations in the mismatch repair (MMR) genes or the MYH gene. 2...
  15. OXIDATIVE DNA DAMAGE AND REPAIR IN CNS CELLS
    Mark Kelley; Fiscal Year: 2003
    ..Specific Aim 1: Functional and biochemical characterization of the repair enzymes Ogg1, NTH, MTH, and MYH in the neuroblastoma cell lines SHSY5Y and Neuro-2A and in primary cultures of hippocampal neurons...
  16. Seattle Colorectal Cancer Family Registry (CFR)
    Polly Newcomb; Fiscal Year: 2007
    ..in Amsterdam families who do not have evidence of an MMR defect, we will enroll families\par who carry an MMR or MYH mutation and families who meet the Amsterdam criteria without evidence of an\par MMR mutation (n=80)...
  17. Inv(16) mediated acute myeloid leukemia in mouse models
    Ya Huei Kuo; Fiscal Year: 2006
    ..One of the candidate Cbfb-MYH 11 cooperating genes, Runx2, will be functionally characterized in hematopoiesis and AML...
  18. MOUSE MODEL FOR OXIDATIVE DNA DAMAGE REPAIR
    Jeffrey Miller; Fiscal Year: 2004
    ..3. Characterize primary mouse embryonic fibroblasts derived from both MYH-/- and MYH-/- OGG1-/- mice. 4...
  19. Repair of Oxidatively Damaged Guanines
    A Lien Lu Chang; Fiscal Year: 2008
    ..We focus on the role of human MutY homolog (hMYH) glycosylase and its interactions with other repair mechanisms...
  20. MECHANISTIC STUDIES OF DNA MISMATCH REPAIR
    A Lien Lu Chang; Fiscal Year: 2006
    ..MutY and MutY homolog (MYH) adenine glycosylases remove misincorporated adenines paired with template 8-oxoG and reduce G:C to T:A ..
  21. Repair of DNA Damages Induced by Ionizing Radiation
    Susan Wallace; Fiscal Year: 2009
    ..The ultimate goal is to develop strategies based on structure/function relationships that would increase the effective dose to the tumor without damaging the normal tissue. ..
  22. HYPOXIA-INDUCED DNA DAMAGE AND REPAIR IN THE RAT BRAIN
    Ella W Englander; Fiscal Year: 2010
    ..abstract_text> ..
  23. FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUP
    Noralane Lindor; Fiscal Year: 2007
    ..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 administrative core ..
  24. Quality of Life of Testicular Cancer Survivors
    Yawei Zhang; Fiscal Year: 2008
    ..The increasing incidence of TC in young men, and the high survival rate, makes understanding the morbidity associated with TC survival a public health priority. [unreadable] [unreadable] [unreadable]..
  25. Annual Midwest DNA Repair Symposium
    ROBERT SOBOL; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  26. Leptin Signaling in Cardiac Hypertrophy
    LILI BAROUCH; Fiscal Year: 2008
    ..Barouch will launch a successful career as an independent physician-scientist. ..
  27. Hypomorphic Mismatch Repair Gene Mutations and Single Molecular MSI Analyses
    Steven 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]..
  28. 9th International Workshop on "Radiation Damage to DNA"
    Susan Wallace; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  29. The Role of Nebulin Isoforms in Thin Filament Assembly
    CAROLE MONCMAN; Fiscal Year: 2006
    ..In addition, information gained here will add to our knowledge of the roles of these proteins in normal and diseased states. [unreadable] [unreadable]..
  30. Molecul Biology of Intestinal Lipid Transport/Metabolism
    NICHOLAS DAVIDSON; Fiscal Year: 2003
    ..abstract_text> ..
  31. MOLECULAR ANALYSES OF MLH3 NULL MICE
    Steven Lipkin; Fiscal Year: 2003
    ....