APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis

Gut

Volumn 40, Issue 4, 1997, Pages 521-525

  Giardiello, F M ^a,e   Petersen, G M ^a,b   Piantadosi, S ^a   Gruber, S B ^a   Traboulsi, E I ^a   Offerhaus, G J A ^c   Muro, K ^a   Krush, A J ^a   Booker, S V ^a   Luce, M C ^d   Laken, S J ^a   Kinzler, K W ^a   Vogelstein, B ^a   Hamilton, S R ^a  

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

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d LABORATORY CORPORATION OF AMERICA   (United States)

^e JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

APC gene mutation; Extraintestinal lesions; Familial adenomatous polyposis; Gardner syndrome; Phenotype

Indexed keywords

ADENOMA; ARTICLE; CHROMOSOME 5Q; FAMILIAL COLON POLYPOSIS; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL;

EID: 8244252293     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.40.4.521     Document Type: Article

References (41)

1. Bussey HJR. Familial polyposis coli. Family studies, histopathology, differential diagnosis, and results of treatment. Baltimore, Maryland: Johns Hopkins University Press, 1975.
2. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 gene in FAP and colorectal cancer patients. Science 1991; 253: 665-9.
3. Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253:661-5.
4. Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66: 589-600.
5. 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.
6. 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 1992; 89: 4452-6.
7. Nagase H, Miyoshi Y, Horii 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.
8. Stella A, Lonoce A, Resta N, et al. Familial adenomatous polyposis - identification of a new frameshift mutation of the APC gene in an Italian family. Biochem Biophys Res Commun 1992; 184: 1357-63.
9. Cottrell S, Bicknell D, Kaklamanis L, Bodmer WF. Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet 1992; 340: 629-9.
10. Fodde R, Vanderluijt 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.
11. 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: 273-9.
12. Paul P, Letteboer T, Coppes M. SSCP detection of APC gene mutations in familial adenomatous polyposis. Am J Hum Genet 1992; 51: A67.
13. Nagase H, Miyoshi Y, Horii A, et al. Germ-line mutations of the APC gene in patients with familial adenomatous polyposis: screening of 50 unrelated patients. Am J Hum Genet 1992; 51: A39.
14. Wallis Y, MacDonald F, Rindl PM, et al. Germline APC mutation familial adenomatous polyposis in an Indian family. Lancet 1992; 340: 1035.
15. Varesco L, Gismondi V, James R, et al. Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis. Am J Hum Genet 1993; 52: 280-5.
16. Groden J, Gelbert L, Thliveris A, Nelson L, Robertson M, Joslyn G, et al. Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. Am J Hum Genet 1993; 52: 263-72.
17. Powell SM, Petersen GM, Krush AJ, Booker SV, Jen J, Giardiello FM, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329: 1982-7.
18. Giardiello FM, Krush AJ, Petersen GM, Booker SV, Kerr M, Tong LL, et al. Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology 1994; 106: 1542-7.
19. Gardner EJ. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermoid cysts. Am J Hum Genet 1962; 14: 376-90.
20. Traboulsi EI, Krush AJ, Gardner EJ, Booker SV, Offerhaus GJA, Yardley JH, et al. Pigmented ocular fundus lesions: Prevalence and significance in Gardner syndrome. N Engl J Med 1987; 316: 661-7.
21. Boland CR, Itzkowitz SH, Kim YS. Colonic polyps and the gastrointestinal polyposis syndromes. In: Sleisenger MH, Fordtran JS, eds. Gastrointestinal disease: pathophysiology, diagnosis, and management. 4th edn. Philadelphia: WB Saunders, 1989: 1500-7.
22. Burt RW. Polyposis syndromes. In: Yamada T, ed. Textbook of gastroenterology. Philadelphia: JB Lippincott, 1991: 1674-95.
23. Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol 1986; 10: 871-87.
24. Giardiello FM, Offerhaus GJA, Traboulsi EI, et al. The value of combined phenorypic markers in identifying inheritance of familial adenomatous polyposis. Gut 1991; 32:1170-4.
25. Offerhaus GJA, Giardiello FM, Krush AJ, Booker SV, Tersmette AC, Kelley CN, et al. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 1992; 102: 1980-2.
26. Hamilton SR, Liu B, Parsons RD, Papadopolous NC, Jen J, Powell S, et al. The molecular basis of Turcot syndrome. N Engl J Med 1995; 332: 839-47.
27. Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G, Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 1993; 75: 959-68.
28. Caspari R, Olschwang S, Friedi W, Mandl M, Boisson C, Boker T, et al. Familial adenomatous polyposis: desmoid tumors and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Mol Genet 1995; 4: 337-40.
29. Davies DR, Armstrong JG, Thakker N, Horner K, Guy SP, Clancy R, et al. Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am J Hum Genet 1995; 57: 1151-8.
30. Dobbie Z, Spycher M, Mary J, Haner M, Guldenschuh I, Hurliman R, 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.
31. Jen J, Kim H, Piantadosi S, Liu Z, Levitt R, Sistonen P, et al. Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med 1994; 331: 213-21.
32. Markowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, et al. Inactivation of the type II TGF-beta receptor in colorectal cancer cells with microsatellite instability. Science 1995; 268: 1336-8.
33. Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen GM, Vogelstein B, et al. Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and summary of 150 unrelated patients. Hum Mut 1992; 1:467-73.
34. Paul P, Letteboer T, Gelbert L, Groden J, White R, Coppes MJ. Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. Hum Mol Genet 1993; 2: 925-31.
35. Nugent KP, Phillips RKS, Hodgson SV, Cottrell S, Smith-Ravin J, Pack K, et al. Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis. Gut 1994; 35: 1622-3.
36. Horii A, Nakatsuru S, Ichii S, Nagase H, Nakamura Y. Multiple forms of the APC gene transcript and their tissue specific expression. Hum Mol Genet 1993; 2: 283-7.
37. Laird PW, Jackson-Grusby L, Fazeli A, Dickinson SL, Jung WE, Li E, et al. Suppression of intestinal neoplasia by DNA hypomethylation. Cell 1995; 81: 197-205.
38. Dietrich WF, Lander ES, Smith JS, Moser AR, Gould KA, Luongo C, et al. Genetic identification of MOM-1, a major modifier locus affecting MIN-induced intestinal neoplasia in mouse. Cell 1993; 75: 631-9.
39. Kennedy AR, Beazer-Barclay Y, Kanzler KW, Newberne PM. Suppression of carcinogenesis in the intestines of Min mice by the soybean-drived Bowman-Birk inhibitor. Cancer Res 1996; 56: 679-82.
40. Jacoby RF, Marshall DJ, Newton MA, Novakovic K, Tutsch K, Cole CE, et al. Chemoprevention of spontaneous intestinal adenomas in the APC-Min mouse by the nonsteroidal anti-inflammatory drug piroxicam. Cancer Res 1996; 56: 710-4.
41. Petersen GM. Knowledge of the adenomatous polyposis coli gene and its clinical application Ann Med 1994; 26: 205-8.