Barrett esophagus with progression to adenocarcinoma in multiple family members with attenuated familial polyposis

Gastroenterology and Hepatology

Volumn 7, Issue 5, 2011, Pages 340-342

  Gupta, Mayuri ^a   Dhavaleshwar, Deepti ^a   Gupta, Vipin ^a   Agrawal, Radheshyam ^a  

^a DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN;

ADULT; ARTICLE; ATTENUATED FAMILIAL POLYPOSIS; BARRETT ESOPHAGUS; CASE REPORT; COLON BIOPSY; COLON RESECTION; COLONOSCOPY; DISEASE COURSE; DYSPLASIA; ENDOSCOPIC ECHOGRAPHY; ESOPHAGEAL ADENOCARCINOMA; ESOPHAGOGASTRODUODENOSCOPY; ESOPHAGUS DISEASE; ESOPHAGUS RESECTION; EXON; FAMILIAL COLON POLYPOSIS; FAMILY ASSESSMENT; FAMILY HISTORY; GASTROINTESTINAL TRACT EXAMINATION; GENE DELETION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; TUMOR BIOPSY; TUMOR VOLUME;

EID: 79957964857     PISSN: 15547914     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer. 2003;2:43-55. (Pubitemid 36534538)
2. Soravia C, Berk T, Madlensky L, et al. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet. 1998;62:1290-1301. (Pubitemid 28307098)
3. Spirio LN, Samowitz W, Robertson J, et al. Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps. Nat Genet. 1998;20:385-388.
4. Moisio AL, Järvinen H, Peltomäki P. Genetic and clinical characterisation of familial adenomatous polyposis: a population based study. Gut. 2002;50:845-850. (Pubitemid 34539048)
5. 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;322:904-908. (Pubitemid 20108380)
6. Matsubara N, Isozaki H, Tanaka N. The farthest 3′ distal end APC mutation identified in attenuated adenomatous polyposis coli with extracolonic manifestations. Dis Colon Rectum. 2000;43:720-721. (Pubitemid 30324615)
7. Lynch HT, Smyrk T, McGinn T, et al. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer. 1995;76:2427-2433.
8. Scott RJ, Meldrum C, Crooks R, et al. Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity. Gut. 2001;48:508-514. (Pubitemid 32234795)
9. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57:704-713. (Pubitemid 351579987)
10. Nielsen M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007;71:427-433. (Pubitemid 46730652)
11. Knudsen AL, Bulow S, Tomlinson I, et al. Attenuated familial adenomatous polyposis (AFAP). Final results from an international collaborative study. Presented at The 2nd Biennial Scientific Meeting of International Society for Gastrointestinal Hereditary Tumours: The 2nd InSiGHT; March 27-March 30, 2007; Yokohama, Japan.
12. Kinzler KW, Vogelstein B. Lessons from hereditary colorectal cancer. Cell. 1996;87:159-170. (Pubitemid 26358996)
13. Powell SM, Zilz N, Beazer-Barclay Y, et al. APC mutations occur early during colorectal tumorigenesis. Nature. 1992;359:235-237.
14. van der Luijt RB, Vasen HF, Tops CM, Breukel C, Fodde R, Meera Khan P. APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis. Hum Genet. 1995;96:705-710.
15. Gallagher MC, Phillips RK, Bulow S. Surveillance and management of upper gastrointestinal disease in familial adenomatous polyposis. Fam Cancer. 2006;5:263-273. (Pubitemid 44453857)
16. Friedl W, Meuschel S, Caspari R, et al. Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. Hum Genet. 1996;97:579-584.
17. Hampel H, Peltomaki P. Hereditary colorectal cancer: risk assessment and management. Clin Genet. 2000;58:89-97.
18. Lynch HT, Watson P. AFAP: variety is the spice of life. Gut. 1998;43:451-452. (Pubitemid 28462023)
19. Wallace MH, Frayling IM, Clark SK, Neale K, Phillips RK. Attenuated adenomatous polyposis coli: the role of ascertainment bias through failure to dye-spray at colonoscopy. Dis Colon Rectum. 1999;42:1078-1080. (Pubitemid 29383840)
20. Clark SK, Middleton SB, Phillips RK. Is it really not familial adenomatous polyposis? Dis Colon Rectum. 2000;43:113. (Pubitemid 30056673)
21. Neklason DW, Stevens J, Boucher KM, et al. American founder mutation for attenuated familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2008;6:46-52. (Pubitemid 50008414)