Association of extracolonic manifestations of familial adenomatous polyposis with acetylation phenotype in a large FAP kindred

European Journal of Human Genetics

Volumn 5, Issue 1, 1997, Pages 43-49

  Scott, Rodney J ^a   Taeschner, Walter ^b   Heinimann, Karl ^a   Müller, Hansjakob ^a   Dobbie, Zuzana ^a   Morgenthaler, Stefan ^c   Hoffmann, Francine ^b   Peterli, Bettina ^b   Meyer, Urs A ^b  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b UNIVERSITY OF BASEL   (Switzerland)

^c EPFL   (Switzerland)

Author keywords

Extracolonic disease; Familial polyposis coli; N acetyltransferase

Indexed keywords

ACYLTRANSFERASE;

ACETYLATION; ARTICLE; CAUCASIAN; CHROMOSOME 5; CLINICAL ARTICLE; COLORECTAL CANCER; DESMOID TUMOR; DISEASE ASSOCIATION; EPIDERMOID CYST; FAMILIAL COLON POLYPOSIS; FEMALE; GARDNER SYNDROME; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; MALE; OSTEOMA; PHENOTYPE; PRIORITY JOURNAL;

EID: 0030962538     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484730     Document Type: Article

References (41)

1. Reed TE, Neel JV: A genetic study of multiple polyposis of the colon (with appendix deriving a method of estimating relative fitness). Am J Hum Genet 1955;7:236-263.
2. Bülow S: Familial polyposis coli. Dan Med Bull 1987;34:1-5.
3. Bussey HJR: Familial Polyposis coli: Family Studies, Histopathology, Differential Diagnosis and Results of Treatment. Baltimore, Johns Hopkins University Press, 1975.
4. Gardner EJ: A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am J Hum Genet 1951;3:167-176.
5. Klemmer S, Passkey L, Daces J: Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet 1987;28:385-392.
6. Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg AA: Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet 1986;25:473-476.
7. Bodmer WF, Bailey CJ, Bodmer J, Bussey HJR, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, Sheer D, Solomon E, Spurr NK: Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987;328:614-616.
8. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahin H, Cohen D, Leppert M, White R: Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66: 589-600.
9. Kinzler KW, Nilbert MC, Su L-K, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finniear R, Markham A, Groffen J, Boguski MS, Altschul SF, Haar A, Ado H, Miyoshi Y, Midi Y, Nishisho I, Nakamura Y: Identification of FAP locus genes from chromosome 5q21. Science 1991; 253:661-665.
10. Fodde R, van der Luijt R, Wijnen J, Tops C, van der Klift H, van Leeuwen-Cornelisse I, Griffioen G, Vasen H, Merra Khan P: Eight novel inactivating germline mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics 1992;13:1162-1168.
11. Miyoshi Y, Ado H, Nagase H, Nishisho I, Haar A, Midi Y, Mori T, Utsunomiya J, Baba S, Petersen G, Hamilton SR, Kinzler KW, Vogelstein B, Nakamura Y: Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992; 89:4452-4456.
12. Groden J, Gelbert L, Thliveris A, Nelson L, Robertson M, Joslyn G, Samowitz W, Spirio L, Carlson M, Burt R, Leppert M, White R: Mutational analysis of patients with adenomatous polyposis: Identical inactivating mutations in unrelated individuals. Am J Hum Genet 1993; 52:263-272.
13. Varesco L, Gismondi V, James RM, Robertson M, Grammatico P, Groden J, Casarino L, De Benedetti L, Bafico A, Bertareio L, Sala P, Sassatelli R, Ponz de Leon M, Biasco G, Allegretti A, Aste H, De Sanctis S, Rossetti C, Illeni MT, Sciarra A, Del Porto G, White R, Ferrara GB: Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis. Am J Hum Genet 1993;52: 280-285.
14. Olschwang S, Laurent-Puig P, Groden J, White R, Thomas G: Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am J Hum Genet 1993;52:273-279.
15. Dobbie Z, Spycher M, Mary J-I, Haner J, Guldenschuh I, Hürlimann R, Ammann R, Roth J, Müller HJ, 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: 274-280.
16. Nishisho I, Nakamura Y, Miyoshi Y, Midi Y, Ado H, Haar A, Koyama K, Utsunomiya J, Baba S, Hedge P, Markham A, Krush AJ, Petersen G, Hamilton SR, Nilbert MC, Levy DB, Bryan TM, Preisinger AC, Smith KJ, Su LK, Kinzler KW, Vogelstein B: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665-669.
17. Scott RJ, van der Luijt R, Spycher M, Mary J-L, Müller A, Hoppeler T, Haner M, Müller HJ, Martinoli S, Brazzola P-L, Meera Khan P: Novel germline mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. Gut 1995;36:731-736.
18. Dietrich WF, Lander ES, Smith JS, Moser AR, Gould KA, Luongo C, Borenstein N, Dove W: Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell 1994;75:631-639.
19. min-induced intestinal neoplasia. Cell 1995;81: 957-966.
20. 2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis. Hum Genet 1996;98:396-390.
21. 2 gene alterations in human colorectal cancer. Cancer Res 1995;55:5184-5186.
22. Weber WW, Hein DW: Acetylator genotype and arylamine carcinogenesis. Biochim Biophys Acta 1985;948:37-66.
23. Bock KW: Metabolic polymorphisms affecting activation of toxic and mutagenic arylamines. TIPS 1992;13:223-226.
24. Bell DA, Badawar AF, Lang NP, Ilett KF, Hirvonen A: Polymorphism in the N-acetyltransferase 1 (NAT1) polyadenylation signal: Association of NAT1*10 allele with higher N-acetylation activity in bladder and colon tissue. Cancer Res 1995;55:5226-5229.
25. Grant D, Blum M, Beer M, Meyer U: Monomorphic and polymorphic human arylamine N-acetyltransferase: A comparison of isozymes and expressed products of two cloned genes. Mol Pharm 1990;39:184-191.
26. Blum M, Demierre A, Grant DM, Heim M, Meier UA: Molecular mechanism of slow acetylation of drugs and carcinogens in humans. Proc Natl Acad Sci USA 1991;88:5237-5241.
27. Vatsis KP, Martell KJ, Weber W: Diverse point mutations in the human gene for polymorphic N-acetyltransferase. Proc Natl Acad Sci USA 1991;88:6333-6337.
28. Hickman D, Sim E: N-acetyltransferase polymorphism: Comparison of phenotype and genotype in humans. Biochem Pharmacol 1991; 42:1007-1014.
29. Lin HJ, Han C-Y, Lin BK, Hardy S: Slow acetylator mutations in the human polymorphic N-acetyltransferase gene in 786 Asians, blacks, hispanics, and whites: Application to metabolic epidemiology. Am J Hum Genet 1993;52:827-834.
30. Evans DAP: N-acetyltransferase. Pharmacol Ther 1989;42:157-234.
31. Wohleib JC, Hunter CE, Blass B, Kadlubar FF, Chu DZJ, Lang NP: Aromatic amine acetyltransferase as a marker for colorectal cancer: Environmental and demographic associations. Int J Cancer 1990;46:22-30.
32. Ilett KF, David BM, Detchon P, Castleden WM, Kwa R: Acetylation phenotype in colorectal cancer. Cancer Res 1987;47:1466-1469.
33. Lang NP, Butler MA, Massengill J, Lawson M, Stotts RC, Hauer-Jensen M, Kadlubar FF: Rapid metabolic phenotypes for acetyltransferase and cytochrome P4501A2 and putative exposure to food-borne heterocyclic amines increase the risk for colorectal cancer of polyps. Cancer Epidemiol Biomarkers Prevent 1994;3: 675-682.
34. Cartwright RA, Glashan RW, Rogers HJ, Ahmed RA, Hall DB, Higgins E, Khan MA: The role of N-acetyltransferase phenotypes in bladder cancer: A pharmacogenetic epidemiological approach to bladder cancer. Lancet 1982;ii:842-846.
35. Wolf H, Lower GM Jr, Bryan GT: Role of N-acetyltransferase phenotype in human susceptibility to bladder carcinogenic arylamines. Scand J Urol Nephrol 1980;14:161-165.
36. Evans DAP, Eze LC, Whibley EJ: The association of the slow acetylator phenotype with bladder cancer. J Med Genet 1983;20:330-333.
37. Miller SA, Dykes DD, Polesky HF: A salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988;16:739.
38. Graf T, Broly F, Hoffman F, Probst M, Meyer UA, Howald H: Prediction of phenotype for acetylation and for debrisoquine hydroxylation by DNA tests in healthy human volunteers. Eur J Clin Pharmacokinet 1992;43:399-403.
39. Scott RJ, Müller HJ: Familial and genetic aspects of colorectal carcinogenesis. Eur J Cancer 1993;29A:2163-2167.
40. Müller HJ, Scott RJ, Weber W, Meier R: Colorectal cancer: Lessons for genetic counselling and care for families. Clin Genet 1994;46:106-114.
41. van der Luijt RB, Meera Khan P, Vasen HFA, Breukel C, Tops CMJ, 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;98:727-734.