Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations

International Journal of Cancer

Volumn 116, Issue 1, 2005, Pages 73-77

  Kairupan, Carla F ^a   Meldrum, Cliff J ^b   Crooks, Renee ^b   Milward, Elizabeth A ^a   Spigelman, Allan D ^a   Burgess, Bronwyn ^c   Groombridge, Claire ^c   Kirk, Judy ^d   Tucker, Kathy ^e   Ward, Robyn ^f   Williams, Rachel ^f   Scott, Rodney J ^a,b  

^a HUNTER MEDICAL RESEARCH INSTITUTE   (Australia)

^b JOHN HUNTER HOSPITAL   (Australia)

^c Hunter Genetics   (Australia)

^d WESTMEAD HOSPITAL   (Australia)

^e PRINCE OF WALES HOSPITAL   (Australia)

^f ST VINCENT S HOSPITAL   (Australia)

Author keywords

Adenomatous polyposis; MYH mutations; Recessive inheritance

Indexed keywords

APC PROTEIN;

ADULT; AGED; ARTICLE; AUSTRALIA; COLON POLYPOSIS; CONTROLLED STUDY; FAMILIAL COLON POLYPOSIS; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MYH GENE; ONCOGENE; PRIORITY JOURNAL; RECTUM ADENOMA;

ADENOMATOUS POLYPOSIS COLI; ADULT; AGED; AUSTRALIA; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, APC; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED;

EID: 20444476779     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/ijc.20983     Document Type: Article

References (20)

1. Bufill JA. Colorectal cancer genetics. Closing the gap between genotype and phenotype. Cancer 1995;76:2389-92.
2. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch H, Watson P, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-7.
3. Dobbie Z, Spycher M, Hurliman R, Ammann R, Ammann T, Roth J, Muller A, Muller H, Scott RJ. Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene. Eur J Cancer 1994; 30A:1709-13.
4. Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z, Bapat B. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 1998;62: 1290-301.
5. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, Groden J, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991;66:601-13.
6. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
7. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665-9.
8. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finniear R, Markham A, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661-5.
9. Dobbie Z, Spycher M, Mary JL, Haner M, Guldenschuh I, Hurliman R, Amman R, Roth J, Muller H, Scott RJ. Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. J Med Genet 1996; 33:274-80.
10. van der Luijt RB, Meera Khan P, Vasen HF, Breukel C, Tops CM, Scott RJ, Fodde R. Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 1996;98:727-34.
11. Nasioulas S, Jones IT, St John DJ, Scott RJ, Forrest SM, McKinlay Gardner RJ. Profuse familial adenomatous polyposis with an adenomatous polyposis coli exon 3 mutation. Fam Cancer 2001;1:3-7.
12. Scott RJ, Meldrum C, Crooks R, Spigelman AD, Kirk J, Tucker K, Koorey D, Hunter Family Cancer Service. Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity. Gut 2001;48:508-14.
13. Tops CM, van der Klift HM, van der Luijt RB, Griffioen G, Taal BG, Vasen HF, Khan PM. Non-allelic heterogeneity of familial adenomatous polyposis. Am J Med Genet 1993;47:563-7.
14. Jones S, Emmerson P, Maynard J, Best JM, Jordan S, Williams GT, Sampson JR, Cheadle JP. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C → T:A mutations. Hum Mol Genet 2002;23:2961-2967.
15. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP. Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nat Genet 2002;30:227-32.
16. Nakabeppu Y, Tsuchimoto D, Furuichi M, Sakumi K. The defensive mechanisms in mammalian cells against oxidative damage in nucleic acids and their involvement in the suppression of mutagenesis and cell death. Free Rad Res 2004;38:423-9.
17. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348:791-9.
18. Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, Viel A, Fornasarig M, Arrigoni A, Gentile M, Ponz de Leon M, Anselmi L, et al. Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer 2004;109:680-4.
19. Miller SA, Dykes DD, Polesky HF. A salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:739.
20. Plasilova M, Russell AM, Wanner A, Wolf A, Dobbie Z, Muller HJ, Heinimann K. Exclusion of an extracolonic disease modifier locus on chromosome lp33-36 in a large Swiss familial adenomatous polyposis kindred. Eur J Hum Genet 2004;12:365-71.