Gastrointestinal polyposis syndromes

American Journal of Medical Genetics

Volumn 122 A, Issue 4, 2003, Pages 335-341

  Bronner, Mary P ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Adenomatous polyposis coli; Cowden syndrome; Ganglioneuromatosis; Gardner syndrome; Genetic testing; Peutz Jeghers syndrome; Tuberous sclerosis; Turcot syndrome

Indexed keywords

ADENOMATOUS POLYP; CANCER SUSCEPTIBILITY; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL TUMOR; GANGLIONEUROMA; GASTROINTESTINAL POLYPOSIS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; HUMAN; INTERNET; MEDICAL GENETICS; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL; TUBEROUS SCLEROSIS;

EID: 0141993850     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20476     Document Type: Conference Paper

References (50)

1. Abraham SC, Nobukawa B, Giardiello FM, Hamilton SR, Wu TT. 2000. Fundic gland polyps in familial adenomatous polyposis: Neoplasms with frequent somatic adenomatous polyposis coli gene alterations. Am J Pathol 157:747-754.
2. Amos CI, Bali D, Thiel TJ, Anderson JP, Gourley I, Frazier ML, Lynch PM, Luchtefeld MA, Young A, McGarrity TJ, Seldin MF. 1997. Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. Cancer Res 57:3653-3656.
3. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. 1994. Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate. Hum Mutat 3:121-125.
4. Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, Ahlquist DA, Podratz KC, Pittelkow M, Hartmann LC. 1998. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128:896-989.
5. Bussey HJR. 1975. Familial polyposis coli. Family studies, histopathology, differential diagnosis, and results of treatment. Baltimore: Johns Hopkins University Press.
6. Cahn LR. 1979. Some notes on Sir Jonathan Hutchinson (1828-1913). Am J Surg Pathol 3:563-566.
7. Chi SG, Kim HJ, Park BJ, Min HJ, Park JH, Kim YW, Dong SH, Kim BH, Lee JI, Chang YW, Chang R, Kim YK, Yang MH. 1998. Mutational abrogation of the PTENIMMACI gene in gastrointestinal polyps in patients with Cowden disease. Gastroenterology 115:1084-1089.
8. Coburn MC, Pricolo VE, DeLuca FG, Bland KI. 1995. Malignant potential in intestinal juvenile polyposis syndromes. Ann Surg Oncol 2:386-391.
9. Desai DC, Neale KF, Talbot IC, Hodgson SV, Phillips RK. 1995. Juvenile polyposis. Br J Surg 82:14-17.
10. Devroede G, Lemieux B, Masse S, Lamarche J, Herman PS. 1988. Colonic hamartomas in tuberous sclerosis. Gastroenterology 94:182-188.
11. Eng C, Peacocke M. 1998. PTEN and inherited hamartoma-cancer syndromes. Nat Genet 19:223.
12. Foley TR, McGarrity TJ, Abt AB. 1988. Peutz-Jeghers syndrome: A clinicopathologic survey of the "Harrisburg family" with a 49-year follow-up. Gastroenterology 95:1535-1540.
13. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M, Offerhaus JA. 2000. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 119:1447-1453.
14. Giardiello FM, Brensinger JD, Peterson GM., 2001. AGAtechnical review on hereditary colorectal cancer and genetic testing. Gastroenterology 121:198-213.
15. Gilks CB, Young RH, Aguirre P, DeLellis RA, Scully RE. 1989. Adenoma malignum (minimal deviation adenocarcinoma) of the uterine cervix. A clinicopathological and immunohistochemical analysis of 26 cases. Am J Surg Pathol 13:717-729.
16. Gurbuz AK, Giardiello FM, Petersen GM, Krush AJ, Offerhaus GJ, Booker SV, Kerr MC, Hamilton SR. 1994. Desmoid tumours in familial adenomatous polyposis. Gut 35:377-381.
17. Haggitt RC, Booth JL. 1970. Bilateral fibromatosis of the breast in Gardner's syndrome. Cancer 25:161-166.
18. Haggitt RC, Reid BJ. 1986. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol 10:871-887.
19. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B. 1995. The molecular basis of Turcot's syndrome. N Engl J Med 332:839-847.
20. Hemminki A, Tomlinson I, Markie D, Jarvinen H, Sistonen P, Bjorkqvist AM, Knuutila S, Salovaara R, Bodmer W, Shibata D, de la Chappelle A, Aaltonen LA. 1997. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 15:87-90.
21. Hopkin K. 1998. A surprising function for the PTEN tumor suppressor. Science 282:1027-1030.
22. Howe JR, Roth S, Ringold JC, Summers RW, Jarvinen HS, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA. 1998. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280:1086-1088.
23. Howe JR, Ringold JC, Hughes JH, Summers RW. 1999. Direct genetic testing for SMAD4 mutations in patients at risk for juvenile polyposis. Surgery 126:162-70.
24. Jacoby RF, Schlack S, Cole CE, Skarbek M, Harris C, Meisner LF. 1997. A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria. Gastroenterology 112:1398-1403.
25. Jass JR, Williams CB, Bussey HJ, Morson BC. 1988. Juvenile polyposis-a precancerous condition. Histopathology 13:619-630.
26. Jeghers H, McKusick VA, Katz KH. 1949. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips, and digits. A syndrome of diagnostic significance. New Engl J Med 241:993-1005.
27. Jenne DE, Reimann H, Nezu J-I, Friedel W, Loff S, Jeschke R, Muller O, Back W, Zimmer M. 1998. Peutz-Jeghers syndrome is caused by mutation in a novel serine threonine kinase. Nat Genet 18:38-43.
28. Laken SJ, Papadopoulos N, Peterson G, Gruber SB, Hamilton SR, Giardiello FM, Brensinger JD, Vogelstein B, Kinzler KW. 1999. Analysis ofmasked mutations in familial adenomatous polyposis. Proc Natl Acad Sci (USA) 96:2322-2326.
29. Laurent-Puig P, Beroud C, Soussi T. 1998. APC gene: Database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 26:269-270.
30. Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R. 1997. Germline mutations of the PTEN gene in Cowden disease, an inherited breast, and thyroid cancer syndrome. Nat Genet 16:64-67.
31. Lynch HT, Smyrk T, McGinn T, Lanspa S, Cavaliori J, Lynch J, Slominski-Castor S, Cayouette MC, Priluck I, Luce MC. 1995. Attenuated familial adenomatous polyposis (AFAP): A phenotypically and genotypically distinctive variant of FAP. Cancer 76:2427-2433.
32. McGarrity TJ, Kulin HE, Zaino RJ. 2000. Peutz-Jeghers syndrome. Am J Gastroenterol 95:596-604.
33. Miyoshi H, Nakau M, Ishikawa TO, Seldin MF, Oshima M, Taketo MM. 2002. Gastrointestinal hamartomatous polyposis in Lkbl heterozygous knockout mice. Cancer Res 62:2261-2266.
34. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C. 1996. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13:114-116.
35. Nugent KP, Farmer KCR, Spigelman AD, Williams CB, Phillips RK. 1993. Randomized controlled trial of the effect of sulindac on duodenal and rectal polyps and cell proliferation in familial adenomatous polyposis. Br J Surg 80:1618-1619.,
36. Offerhaus GJ, Giardiello FM, Krush AJ, Bookers SV, Tersmette AC, Kelley NC, Hamilton SR. 1992. The risk of upper ofupper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 102:1980-1982.
37. Petersen VC, Sheehan AL, Bryan RL, Armstrong CP, Shepherd NA. 2000. Misplacement of dysplastic epithelium in Peutz-Jeghers polyps: The ultimate diagnostic pitfall? Aro Am J Surg Pathol 24:34-39.
38. Roth S, Sistonen P, Salovaara R, Hemminki A, Loukola A, Johansson M, Avizienyte E, Cleary KA, Lynch P, Amos CI, Kristo P, Mecklin JP, Kellokumpu I, Jarvinen H, Aaltonen LA. 1999. SMAD genes in juvenile polyposis. Genes Chromosomes Cancer 26:54-61.
39. Rustgi AK. 1994. Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med 331:1694-1702.
40. Scully RE. 1970. Sex cord tumor with annular tubules-a distinctive ovarian tumor of the Peutz-Jeghers syndrome. Cancer 25:1107-1121.
41. Shekitka KM, Sobin LH. 1994. Ganglioneuromas of the gastrointestinal tract. Relation to Von Recklinghausen disease and other multiple tumor syndromes. Am J Surg Pathol 18:250-257.
42. Shepherd NA, Bussey HJR, Jass JR. 1987. Epithelial misplacement in Peutz-Jeghers polyps. Am J Surg Pathol 11:743-749.
43. Steinbach G, Lynch PM, Phillips RK, Wallace MH, Hawk E, Gordon GB, Wakabayashi N, Saunders B, Shen Y, Fujimura T, Su LK, Levin B. 2000. The effect of celecoxib, a cyclooxygenase-2 inhibitor in familial adenomatous polyposis. New Engl J Med 342:1946-1952.
44. Trojan J, Brieger A, Raedle J, Roth WK, Zeuzem S. 1999. Peutz-Jeghers syndrome: Molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11. Am J Gastroenterol 94:257-261.
45. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osbourne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Kwiatkowski DJ. 1997. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277:805-808.
46. Ward EM, Wolfsen HC. 2002. Review article: The non-inherited gastrointestinal polyposis syndromes. Aliment Pharmacol Ther 16:333-342.
47. Wilson DM, Pitts WC, Hintz RL, Rosenfeld RG. 1986. Testicular tumors with Peutz-Jeghers syndrome. Cancer 57:2238-2240.
48. Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA. 2001. Hamartomatous polyposis syndromes: Molecular genetics, neoplastic risk, and surveil-lance recommendations. Ann Surg Oncol 8:319-327.
49. Young RH, Welch WR, Dickersin GR, Scully RE. 1982. Ovarian sex cord tumor with annular tubules: Review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix. Cancer 50:1384-1402.
50. Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Jarvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. 2001. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet 69:704-711.