Unwinding the heterogeneous nature of hamartomatous polyposis syndromes

JAMA

Volumn 294, Issue 19, 2005, Pages 2498-2500

  Carethers, John M ^a,b,c  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c VA SAN DIEGO HEALTHCARE SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE LKB1; SMAD4 PROTEIN;

CANCER RISK; COLORECTAL CANCER; COWDEN SYNDROME; DNA SEQUENCE; EDITORIAL; GENE DISRUPTION; GENE MUTATION; GENOTYPE; HAMARTOMA; HUMAN; MOLECULAR MECHANICS; PHENOTYPE; POLYPOSIS; PRIORITY JOURNAL; PROTEIN FAMILY;

EID: 27744502497     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.294.19.2498     Document Type: Editorial

References (23)

1. Carethers JM. Hereditary polyposis syndromes. In: Scheppach W, Bresalier RS, Tygat GNJ, eds. Gastrointestinal and Liver Tumors. Heidelberg, Germany: Springer-Verlag; 2004:125-141.
2. Giardiello FM, Hamilton SR, Kern SE, et al. Colorectal neoplasia in juvenile polyposis or juvenile polyps. Arch Dis Child. 1991;66:971-975.
3. Goodman ZD, Yardley JH, Milligan FD. Pathogenesis of colonic polyps in multiple juvenile polyposis. Cancer. 1979;43:1906-1913.
4. Sassatelli R, Bertoni G, Serra L, Bedogni G, Ponz de Leon M. Generalized juvenile polyposis with mixed pattern and gastric cancer. Gastroenterology. 1993;104:910-915.
5. Jass JR, Williams CB, Bussey HJR, Morson BC. Juvenile polyposis-a precancerous condition. Histopathology. 1988;13:619-630.
6. Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol. 1986;10:871-887.
7. Marra G, Armelao F, Vecchio FM, Percesepe A, Anti M. Cowden's disease with extensive gastrointestinal polyposis. J Clin Gastroenterol. 1994;18:42-47.
8. Leggett BA, Devereaux B, Biden K, Searle J, Young J, Jass J. Hyperplastic polyposis: association with colorectal cancer. Am J Surg Pathol. 2001;25:177-184.
9. Hyman NH, Anderson P, Blasyk H. Hyperplastic polyposis and the risk of colorectal cancer. Dis Colon Rectum. 2004;47:2101-2104.
10. Torlakovic E, Snover DC. Serrated adenomatous polyposis in humans. Gastroenterology. 1996;110:748-755.
11. Hawkins NJ, Bariol C, Ward R. The serrated neoplasia pathway. Pathology. 2002;34:548-555.
12. Jass J, Whitehall V, Young J, Leggett B. Emerging concepts in colorectal neoplasia. Gastroenterology. 2002;123:862-876.
13. Iwamoto M, Hoffenberg EJ, Carethers JM, et al. Nuclear accumulation of beta-catenin occurs commonly in the epithelial cells of juvenile polyps. Pediatr Res. 2005;57:4-9.
14. Howe JR, Bair JL, Sayed MG, et al. Germline mutations of the gene encoding bone morphogenic protein receptor 1A in juvenile polyposis. Nat Genet. 2001;28:184-187.
15. Howe JR, Sayed MG, Ahmed AF, et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polypsosis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet. 2004;41:484-491.
16. Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 1998;280:1086-1088.
17. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004;363:852-859.
18. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391:184-187.
19. Liaw D, Marsh DJ, Li J, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997;16:64-67.
20. Marsh DJ, Kum JB, Lunetta KL, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999;8:1461-1472.
21. Sweet K, Willis J, Zhou X-P, et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA. 2005;294:2465-2473.
22. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8:345-351.
23. Jung B, Doctolero RT, Tajima A, et al. Loss of activin receptor type 2 protein expression in microsatellite unstable colon cancers. Gastroenterology. 2004;126:654-659.