Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene

Gut

Volumn 43, Issue 4, 1998, Pages 548-552

  Brensinger, J D ^a,f   Laken, S J ^b   Luce, M C ^a   Powell, S M ^d   Vance, G H ^c   Ahnen, D J ^e   Petersen, G M ^b   Hamilton, S R ^b   Giardiello, F M ^a  

^a Department of Medicine ^*

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c INDIANA UNIVERSITY   (United States)

^d UNIVERSITY OF VIRGINIA MEDICAL CENTER   (United States)

^e UNIVERSITY OF COLORADO   (United States)

^f JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Adenomatous polyposis cob gene mutation; Attenuated adenomatous polyposis coli; Extracolonic lesions; Familial adenomatous polyposis

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COLON POLYPOSIS; COLORECTAL CANCER; FAMILIAL CANCER; FEMALE; GENE MUTATION; HUMAN; MALE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031691330     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.43.4.548     Document Type: Article

References (30)

1. Bussey HJR. Familial polyposis coli. Family studies, histopathology, differential diagnosis, and results of treatment. Baltimore, Maryland: Johns Hopkins University Press, 1975.
2. Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorhid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 1990;100:1658-64.
3. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 gene in FAP and colorectal cancer patients. Science 1991;253:665-9.
4. Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253: 661-5.
5. Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
6. Joslyn G, Carlson M, Thliveris A, et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991;66:600-13.
7. Lynch HT, Smyrk T, Lanspa SJ, et al. Flat adenomas in a colon cancer-prone kindred. J Natl Cancer Inst 1988;80: 278-82.
8. Lynch HT, Smyrk T, Lanspa SJ, et al. Phenotypic variation in colorectal adenoma cancer expression in two families - hereditary flat adenoma syndrome. Cancer 1990;66:909-15.
9. Leppert M, Burt R, Hughes JP, et al. Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med 1990;322:904-8.
10. Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-7.
11. Spirio L, Otterud B, Stauffer D, et al. Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. Am J Hum Genet 1992;51:92-100.
12. Lynch HT, Smyrk T, McGinn T, et al. Attenuated familial adenomatous polyposis (AFAP): a phenotypically and genotypically distinctive variant of FAP. Cancer 1995;76: 2427-33.
13. Olschwang S, Laurent-Puig P, Groden J, et al. Germline mutations in the first fourteen exons of the APC gene. Am J Hum Genet 1993;52:273-9.
14. Foode R, van der Luijt R, Wijnen J, et al. Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics 1992;13: 1162-8.
15. Giardiello FM, Brensinger JD, Luce MC, et al. Phenotypic expression in adenomatous polyposis families with mutation in the 5′ region of the adenomatous polyposis coli gene. Ann Intern Med 1997;126:514-19.
16. Miyoshi Y, Ando H, Nagase H, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992;89:4452-6.
17. Nagase H, Miyoshi Y, Horri A, et al. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 1992;52:4055-7.
18. Friedl W, Meuschel S, Caspari R, et al. Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet 1996;97:579-84.
19. van der Luijt RB, Khan PM, Vasen HFA, et al. Germline mutations in the 3′ part of the APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 1996;98:727-34.
20. Eccles DM, van der Luijt R, Breukel C, et al. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 1996;59:1193-201.
21. Scott RJ, Frogatt NJ, Trembath RC, et al. Familial infiltrative fibromatosis (desmoid tumors) (MIM 135290) caused by a recurrent 3′ APC gene mutation. Hum Mol Genet 1996;5:1921-4.
22. Gardner RJM, Kool D, Edkins E, et al. The clinical correlates of a 3′ truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene. Gastroenterology 1997;113:326-31.
23. Scott RJ, van der Luijt R, Spycher M, et al. Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. Gut 1995;36:731-6.
24. Dobbie Z, Spycher M, Mary JL, et al. 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.
25. Groden J, Gelbert L, Thliveris A, et al. Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. J Hum Genet 1993; 52:263-72.
26. Caspari R, Olschwang S, Friedi W, et al. Familial adenomatous polyposis: desmoid tumors and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995;4:337-40.
27. Miyoshi Y, Ando H, Nagase H, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients, Proc Natl Acad Sci USA 1992;89:4452-6.
28. Nagasc H, Miyoshi Y, Horii A, et al. Germ-line mutations of the APC gene in patients with familial adenomatous polyposis: screening of 150 unrelated patients. Am J Hum Genet 1992;51:A39.
29. Powell SM, Petersen GM, Krush AJ, et al. Molecular diagnosis of familial adenomatous polyposis. N Wngl J Med 1993;329:1982-7.
30. Burt RW, Kuwada SK, Kerber R, et al. The predominance of proximal colonic neoplasms in attenuated adenomatous polyposis coli [abstract]. Gastroenterology 1995;108:A453.