MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps

Gastroenterology

Volumn 127, Issue 1, 2004, Pages 9-16

  Wang, Liang ^a   Baudhuin, Linnea M ^a   Boardman, Lisa A ^a   Steenblock, Kelle J ^a   Petersen, Gloria M ^a   Halling, Kevin C ^a   French, Amy J ^a   Johnson, Ruth A ^a   Burgart, Lawrence J ^a   Rabe, Kari ^a   Lindor, Noralane M ^a   Thibodeau, Stephen N ^a  

^a Mayo Clinic   (United States)

Author keywords

AFAP; attenuated familial adenomatous polyposis; colorectal cancer; CRC; familial adenomatous polyposis; FAP; hereditary nonpolyposis colorectal cancer; HNPCC; mismatch repair; MMR; PCR; polymerase chain reaction

Indexed keywords

ADOLESCENT; ADULT; AGED; ANALYTIC METHOD; ARTICLE; CANCER SCREENING; COLONOSCOPY; COLORECTAL CANCER; CONTROLLED STUDY; CORRELATION ANALYSIS; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MISMATCH REPAIR; MUTATION RATE; POLYPOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 3242689475     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2004.03.070     Document Type: Article

References (21)

1. Landis S.H., Murray T., Bolden S., Wingo P.A. Cancer statistics, 1999. CA Cancer J Clin. 49:1999;8-31
2. Burt R.W., Petersen G.M. Familial colorectal cancer diagnosis and management. Young G.P., Rozen P., Levin B. Prevention and early detection of colorectal cancer. 1996;171-194 Saunders, London, England
3. Giardiello F.M. Gastrointestinal polyposis syndromes and hereditary nonpolyposis colorectal cancer. Rustgi A. Gastrointestinal cancers biology, diagnosis, and therapy. 1995;Raven, New York, NY
4. Cannon-Albright L.A., Skolnick M.H., Bishop D.T., Lee R.G., Burt R.W. Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med. 319:1988;533-537
5. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol. 21:2003;1174-1179
6. Fearnhead N.S., Britton M.P., Bodmer W.F. The ABC of APC. Hum Mol Genet. 10:2001;721-733
7. Lamlum H., Al-Tassan N., Jaeger E., Frayling I., Sieber O.M., Reza F.B., Eckert M., Rowan A., Barclay E., Atkin W., Williams C., Gilbert J., Cheadle J.P., Bell J., Houlston R., Bodmer W.F., Sampson J., Tomlinson I. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Hum Mol Genet. 9:2000;2215-2221
8. Lindahl T. Instability and decay of the primary structure of DNA. Nature. 362:1993;709-715
9. Cheng K.C., Cahill D.S., Kasai H., Nishimura S., Loeb L.A. 8-Hydroxyguanine, an abundant form of oxidative DNA damage, causes G to T and A to C substitutions. J Biol Chem. 267:1992;166-172
10. Maki H., Sekiguchi M. MutT protein specifically hydrolyses a potent mutagenic substrate for DNA synthesis. Nature. 355:1992;273-275
11. Al-Tassan N., Chmiel N.H., Maynard J., Fleming N., Livingston A.L., Williams G.T., Hodges A.K., Davies D.R., David S.S., Sampson J.R., Cheadle J.P. Inherited variants of MYH associated with somatic G:C to T:A mutations in colorectal tumors. Nat Genet. 30:2002;227-232
12. Jones S., Emmerson P., Maynard J., Best J.M., Jordan S., Williams G.T., Sampson J.R., Cheadle J.P. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C to T:A mutations. Hum Mol Genet. 11:2002;2961-2967
13. Enholm S., Hienonen T., Suomalainen A., Lipton L., Tomlinson I., Karja V., Eskelinen M., Mecklin J.P., Karhu A., Jarvinen H.J., Aaltonen L.A. Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol. 163:2003;827-832
14. Halford S.E.R., Rowan A.J., Lipton L., Sieber O.M., Pack K., Thomas H.J.W., Hodgson S.V., Bodmer W.F., Tomlinson I.P.M. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol. 162:2003;1545-1548
15. Sampson J.R., Dolwani S., Jones S., Eccles D., Ellis A., Evans D.G., Frayling I., Jordan S., Maher E.R., Mak T., Maynard J., Pigatto F., Shaw J., Cheadle J.P. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 362:2003;39-41
16. Sieber O.M., Lipton L., Crabtree M., Heinimann K., Fidalgo P., Phillips R.K., Bisgaard M.L., Orntoft T.F., Aaltonen L.A., Hodgson S.V., Thomas H.J., Tomlinson I.P. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 348:2003;791-799
17. Cunningham J.M., Kim C.-Y., Christensen E.R., Tester D.J., Parc Y., Burgart L.J., Halling K.C., McDonnell S.K., Schaid D.J., Walsh-Vickley C., Kubly V., Nelson H., Michels V.V., Thibodeau S.N. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 69:2001;780-790
18. Fakhrai-Rad H., Pourmand N., Ronaghi M. Pyrosequencing an accurate detection platform for single nucleotide polymorphisms. Hum Mutat. 19:2002;479-485
19. Marra G., Jiricny J. Multiple colorectal adenomas - is their number up? N Engl J Med. 348:2003;845-847
20. Chmiel N.H., Livingston A.L., David S.S. Insight into the functional consequences of inherited variants of the hMYH adenine glycosylase associated with colorectal cancer complementation assays with hMYH variants and pre-steady-state kinetics of the corresponding mutated E. coli enzymes. J Mol Biol. 327:2003;431-443
21. Guan Y., Manuel R.C., Arvai A.S., Parikh S.S., Mol C.D., Miller J.H., Lloyd S., Tainer J.A. MutY catalytic core, mutant and bound adenine structures define specificity for DNA repair enzyme superfamily. Nat Struct Biol. 5:1998;1058-1064