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Volumn 16, Issue 4, 2003, Pages 359-365

Gastrointestinal inherited polyposis syndromes

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; SMAD4 PROTEIN;

EID: 0037395197     PISSN: 08933952     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.MP.0000062992.54036.E4     Document Type: Review
Times cited : (24)

References (50)
  • 1
    • 0028061678 scopus 로고
    • Hereditary gastrointestinal polyposis and nonpolyposis syndromes
    • Rustgi AK. Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med 1994;331:1694-702.
    • (1994) N Engl J Med , vol.331 , pp. 1694-1702
    • Rustgi, A.K.1
  • 2
    • 0022977531 scopus 로고
    • Hereditary gastrointestinal polyposis syndromes
    • Haggitt RC, et al. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol 1986;10:871-87.
    • (1986) Am J Surg Pathol , vol.10 , pp. 871-887
    • Haggitt, R.C.1
  • 3
    • 0036185181 scopus 로고    scopus 로고
    • Review article: The non-inherited gastrointestinal polyposis syndromes
    • Ward EM, Wolfsen HC. Review article: the non-inherited gastrointestinal polyposis syndromes. Aliment Pharmacol Ther 2002;16:333-42.
    • (2002) Aliment Pharmacol Ther , vol.16 , pp. 333-342
    • Ward, E.M.1    Wolfsen, H.C.2
  • 4
    • 0030820394 scopus 로고    scopus 로고
    • Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p
    • Amos CI, Bali D, Thiel TJ, et al. Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. Cancer Res 1997;57:3653-6.
    • (1997) Cancer Res , vol.57 , pp. 3653-3656
    • Amos, C.I.1    Bali, D.2    Thiel, T.J.3
  • 5
    • 0031791817 scopus 로고    scopus 로고
    • Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease
    • Chi SG, Kim HJ, Park BJ, et al. Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease. Gastroenterology 1998;115:1084-9.
    • (1998) Gastroenterology , vol.115 , pp. 1084-1089
    • Chi, S.G.1    Kim, H.J.2    Park, B.J.3
  • 6
    • 0031831731 scopus 로고    scopus 로고
    • PTEN and inherited hamartoma-cancer syndromes
    • Eng C, Peacocke M. PTEN and inherited hamartoma-cancer syndromes. Nat Genet 1998;19:223.
    • (1998) Nat Genet , vol.19 , pp. 223
    • Eng, C.1    Peacocke, M.2
  • 7
    • 0031012344 scopus 로고    scopus 로고
    • Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis
    • Hemminki A, Tomlinson K, Markie D, et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 1997;15:87-90.
    • (1997) Nat Genet , vol.15 , pp. 87-90
    • Hemminki, A.1    Tomlinson, K.2    Markie, D.3
  • 8
    • 0032491536 scopus 로고    scopus 로고
    • A surprising function for the PTEN tumor suppressor
    • Hopkin K. A surprising function for the PTEN tumor suppressor. Science 1998;282:1027-30.
    • (1998) Science , vol.282 , pp. 1027-1030
    • Hopkin, K.1
  • 9
    • 0032816499 scopus 로고    scopus 로고
    • Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis
    • Howe JR, Ringold JC, Hughes JH, et al. Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis. Surgery 1999;126:162-70.
    • (1999) Surgery , vol.126 , pp. 162-170
    • Howe, J.R.1    Ringold, J.C.2    Hughes, J.H.3
  • 10
    • 0032524069 scopus 로고    scopus 로고
    • Mutations in the SMAD4/DPC4 gene in juvenile polyposis
    • Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998;280:1086-8.
    • (1998) Science , vol.280 , pp. 1086-1088
    • Howe, J.R.1    Roth, S.2    Ringold, J.C.3
  • 11
    • 0030987867 scopus 로고    scopus 로고
    • A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria
    • Jacoby RF, Schlack S, Cole CE, et al. A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria. Gastroenterology 1997;112:1398-403.
    • (1997) Gastroenterology , vol.112 , pp. 1398-1403
    • Jacoby, R.F.1    Schlack, S.2    Cole, C.E.3
  • 12
    • 0031974516 scopus 로고    scopus 로고
    • Peutz-Jeghers syndrome is caused by mutation in a novel serine threonine kinase
    • Jenne DE, Reimann H, Nezu J-I, et al. Peutz-Jeghers syndrome is caused by mutation in a novel serine threonine kinase. Nat Genet 1998;18:38-43.
    • (1998) Nat Genet , vol.18 , pp. 38-43
    • Jenne, D.E.1    Reimann, H.2    Nezu, J.-I.3
  • 13
    • 0031004088 scopus 로고    scopus 로고
    • Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
    • 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;16:64-7.
    • (1997) Nat Genet , vol.16 , pp. 64-67
    • Liaw, D.1    Marsh, D.J.2    Li, J.3
  • 14
    • 0030140025 scopus 로고    scopus 로고
    • Localization of the gene for Cowden disease to chromosome 10q22-23
    • Nelen MR, Padberg GW, Peeters EA, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996;13:114-6.
    • (1996) Nat Genet , vol.13 , pp. 114-116
    • Nelen, M.R.1    Padberg, G.W.2    Peeters, E.A.3
  • 16
    • 0030879277 scopus 로고    scopus 로고
    • Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
    • van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277:805-8.
    • (1997) Science , vol.277 , pp. 805-808
    • Van Slegtenhorst, M.1    De Hoogt, R.2    Hermans, C.3
  • 17
    • 0034955851 scopus 로고    scopus 로고
    • AGA technical review on hereditary colorectal cancer and genetic testing
    • Giardiello FM, Brensinger JD, Peterson GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001;121:198-213.
    • (2001) Gastroenterology , vol.121 , pp. 198-213
    • Giardiello, F.M.1    Brensinger, J.D.2    Peterson, G.M.3
  • 18
    • 0035011886 scopus 로고    scopus 로고
    • Hamartomatous polyposis syndromes: Molecular genetics, neoplastic risk, and surveillance recommendations
    • Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA. Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol 2001;8:319-27.
    • (2001) Ann Surg Oncol , vol.8 , pp. 319-327
    • Wirtzfeld, D.A.1    Petrelli, N.J.2    Rodriguez-Bigas, M.A.3
  • 20
    • 0026537747 scopus 로고
    • The risk of upper gastrointestinal cancer in familial adenomatous polyposis
    • Offerhaus GJ, Giardiello FM, Krush AJ, et al. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 1992;102:1980-2.
    • (1992) Gastroenterology , vol.102 , pp. 1980-1982
    • Offerhaus, G.J.1    Giardiello, F.M.2    Krush, A.J.3
  • 21
    • 0028823186 scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP): A phenotypically and genotypically distinctive variant of FAP
    • 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.
    • (1995) Cancer , vol.76 , pp. 2427-2433
    • Lynch, H.T.1    Smyrk, T.2    McGinn, T.3
  • 22
    • 0028323465 scopus 로고
    • Desmoid tumours in familial adenomatous polyposis
    • Gurbuz AK, Giardiello FM, Petersen GM, et al. Desmoid tumours in familial adenomatous polyposis. Gut 1994;35:377-81.
    • (1994) Gut , vol.35 , pp. 377-381
    • Gurbuz, A.K.1    Giardiello, F.M.2    Petersen, G.M.3
  • 23
    • 0014705477 scopus 로고
    • Bilateral fibromatosis of the breast in Gardner's syndrome
    • Haggitt RC, Booth JL. Bilateral fibromatosis of the breast in Gardner's syndrome. Cancer 1970;25:161-6.
    • (1970) Cancer , vol.25 , pp. 161-166
    • Haggitt, R.C.1    Booth, J.L.2
  • 24
    • 0028970197 scopus 로고
    • The molecular basis of Turcot's syndrome
    • Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995;332:839-47.
    • (1995) N Engl J Med , vol.332 , pp. 839-847
    • Hamilton, S.R.1    Liu, B.2    Parsons, R.E.3
  • 25
    • 0034495101 scopus 로고    scopus 로고
    • Fundic gland polyps in familial adenomatous polyposis: Neoplasms with frequent somatic adenomatous polyposis coli gene alterations
    • Abraham SC, Nobukawa B, Giardiello FM, et al. Fundic gland polyps in familial adenomatous polyposis: neoplasms with frequent somatic adenomatous polyposis coli gene alterations. Am J Pathol 2000;157:747-54.
    • (2000) Am J Pathol , vol.157 , pp. 747-754
    • Abraham, S.C.1    Nobukawa, B.2    Giardiello, F.M.3
  • 26
    • 2642698862 scopus 로고    scopus 로고
    • APC gene: Database of germline and somatic mutations in human tumors and cell lines
    • Laurent-Puig P, Beroud C, Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1998;26:269-70.
    • (1998) Nucleic Acids Res , vol.26 , pp. 269-270
    • Laurent-Puig, P.1    Beroud, C.2    Soussi, T.3
  • 27
    • 0028350369 scopus 로고
    • Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate
    • Bisgaard ML, Fenger K, Bulow S, et al. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994;3:121-5.
    • (1994) Hum Mutat , vol.3 , pp. 121-125
    • Bisgaard, M.L.1    Fenger, K.2    Bulow, S.3
  • 28
    • 0033515008 scopus 로고    scopus 로고
    • Analysis of masked mutations in familial adenomatous polyposis
    • Laken SJ, Papadopoulos N, Peterson G, et al. Analysis of masked mutations in familial adenomatous polyposis. Proc Natl Acad Sci U S A 1999;96:2322-6.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 2322-2326
    • Laken, S.J.1    Papadopoulos, N.2    Peterson, G.3
  • 29
    • 0027141503 scopus 로고
    • Randomized controlled trial of the effect of sulindac on duodenal and rectal polyps and cell proliferation in familial adenomatous polyposis
    • Nugent KP, Farmer KCR, Spigelman AD, et al. Randomized controlled trial of the effect of sulindac on duodenal and rectal polyps and cell proliferation in familial adenomatous polyposis. Br J Surg 1993;80:1618-9.
    • (1993) Br J Surg , vol.80 , pp. 1618-1619
    • Nugent, K.P.1    Farmer, K.C.R.2    Spigelman, A.D.3
  • 30
    • 17744418769 scopus 로고    scopus 로고
    • The effect of celecoxib, a cyclooxygenase-2 inhibitor in familial adenomatous polyposis
    • Steinbach G, Lynch PM, Phillips RK, et al. The effect of celecoxib, a cyclooxygenase-2 inhibitor in familial adenomatous polyposis. N Engl J Med 2000;342:1946-52.
    • (2000) N Engl J Med , vol.342 , pp. 1946-1952
    • Steinbach, G.1    Lynch, P.M.2    Phillips, R.K.3
  • 31
    • 0018588507 scopus 로고
    • Some notes on Sir Jonathan Hutchinson (1828-1913)
    • Cahn LR. Some notes on Sir Jonathan Hutchinson (1828-1913). Am J Surg Pathol 1979;3:563-6.
    • (1979) Am J Surg Pathol , vol.3 , pp. 563-566
    • Cahn, L.R.1
  • 32
    • 0024238366 scopus 로고
    • Peutz-Jeghers syndrome. A clinicopathologic survey of the "Harrisburg Family" with a 49-year follow-up
    • Foley TR, McGarrity TJ, Abt AB. Peutz-Jeghers syndrome. A clinicopathologic survey of the "Harrisburg Family" with a 49-year follow-up. Gastroenterology 1988;95:1535-40.
    • (1988) Gastroenterology , vol.95 , pp. 1535-1540
    • Foley, T.R.1    McGarrity, T.J.2    Abt, A.B.3
  • 33
    • 0000152018 scopus 로고
    • Generalized intestinal polyposis and melanin spots of the oral mucosa, lips, and digits. A syndrome of diagnostic significance
    • Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips, and digits. A syndrome of diagnostic significance. N Engl J Med 1949;241:993-1005.
    • (1949) N Engl J Med , vol.241 , pp. 993-1005
    • Jeghers, H.1    McKusick, V.A.2    Katz, K.H.3
  • 35
    • 0033971520 scopus 로고    scopus 로고
    • Misplacement of dysplastic epithelium in Peutz-Jeghers polyps: The ultimate diagnostic pitfall?
    • Petersen VC, Sheehan AL, Bryan RL, et al. Misplacement of dysplastic epithelium in Peutz-Jeghers polyps: the ultimate diagnostic pitfall? Am J Surg Pathol 2000;24:34-9.
    • (2000) Am J Surg Pathol , vol.24 , pp. 34-39
    • Petersen, V.C.1    Sheehan, A.L.2    Bryan, R.L.3
  • 37
  • 38
    • 15444350943 scopus 로고    scopus 로고
    • Increased risk for cancer in patients with the Peutz-Jeghers syndrome
    • Boardman LA, Thibodeau SN, Schald DJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998;128:896-989.
    • (1998) Ann Intern Med , vol.128 , pp. 896-989
    • Boardman, L.A.1    Thibodeau, S.N.2    Schald, D.J.3
  • 39
    • 0014784453 scopus 로고
    • Sex cord tumor with annular tubules - A distinctive ovarian tumor of the Peutz-Jeghers syndrome
    • Scully RE. Sex cord tumor with annular tubules - a distinctive ovarian tumor of the Peutz-Jeghers syndrome. Cancer 1970;25:1107-21.
    • (1970) Cancer , vol.25 , pp. 1107-1121
    • Scully, R.E.1
  • 40
    • 0019963714 scopus 로고
    • Ovarian sex cord tumor with annular tubules
    • Young RH, Welch WR, Dickersin GR, et al. Ovarian sex cord tumor with annular tubules. Cancer 1982;50:1384-1402.
    • (1982) Cancer , vol.50 , pp. 1384-1402
    • Young, R.H.1    Welch, W.R.2    Dickersin, G.R.3
  • 41
    • 0022577850 scopus 로고
    • Testicular tumors with Peutz-Jeghers syndrome
    • Wilson DM, Pitts WC, Hintz RL, et al. Testicular tumors with Peutz-Jeghers syndrome. Cancer 1986;57:2238-40.
    • (1986) Cancer , vol.57 , pp. 2238-2240
    • Wilson, D.M.1    Pitts, W.C.2    Hintz, R.L.3
  • 42
    • 0024373376 scopus 로고
    • Adenoma malignum (minimal deviation adenocarcinoma) of the uterine cervix. A clinicopathological and immuno-histochemical analysis of 26 cases
    • Gilks CB, Young RH, Aguirre P, et al. Adenoma malignum (minimal deviation adenocarcinoma) of the uterine cervix. A clinicopathological and immuno-histochemical analysis of 26 cases. Am J Surg Pathol 1989;13:717-29.
    • (1989) Am J Surg Pathol , vol.13 , pp. 717-729
    • Gilks, C.B.1    Young, R.H.2    Aguirre, P.3
  • 43
    • 0032895374 scopus 로고    scopus 로고
    • Peutz-Jeghers syndrome. Molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11
    • Trojan J, Brieger A, Raedle J, et al. Peutz-Jeghers syndrome. Molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11. Am J Gastroenterol 1999;94:257-61.
    • (1999) Am J Gastroenterol , vol.94 , pp. 257-261
    • Trojan, J.1    Brieger, A.2    Raedle, J.3
  • 44
    • 0037089467 scopus 로고    scopus 로고
    • Gastrointestinal hamartomatous polyposis in Lkb1 heterozygous knockout mice
    • Miyoshi H, Nakau M, Ishikawa TO, et al. Gastrointestinal hamartomatous polyposis in Lkb1 heterozygous knockout mice. Cancer Res 2002;62:2261-6.
    • (2002) Cancer Res , vol.62 , pp. 2261-2266
    • Miyoshi, H.1    Nakau, M.2    Ishikawa, T.O.3
  • 45
    • 0034829630 scopus 로고    scopus 로고
    • Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes
    • Zhou XP, Woodford-Richens K, Lehtonen R, et al. 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 2001;69:704-11.
    • (2001) Am J Hum Genet , vol.69 , pp. 704-711
    • Zhou, X.P.1    Woodford-Richens, K.2    Lehtonen, R.3
  • 48
    • 0029362966 scopus 로고
    • Malignant potential in intestinal juvenile polyposis syndromes
    • Coburn MC, Pricolo VE, DeLuca FG, et al. Malignant potential in intestinal juvenile polyposis syndromes. Ann Surg Oncol 1995;2:386-91.
    • (1995) Ann Surg Oncol , vol.2 , pp. 386-391
    • Coburn, M.C.1    Pricolo, V.E.2    DeLuca, F.G.3
  • 49
    • 0028053140 scopus 로고
    • Ganglioneuromas of the gastrointestinal tract. Relation to Von Recklinghausen disease and other multiple tumor syndromes
    • Shekitka KM, Sobin LH. Ganglioneuromas of the gastrointestinal tract. Relation to Von Recklinghausen disease and other multiple tumor syndromes. Am J Surg Pathol 1994;18:250-7.
    • (1994) Am J Surg Pathol , vol.18 , pp. 250-257
    • Shekitka, K.M.1    Sobin, L.H.2
  • 50
    • 0023840093 scopus 로고
    • Colonic hamartomas in tuberous sclerosis
    • Devroede G, Lemieux B, Masse S, et al. Colonic hamartomas in tuberous sclerosis. Gastroenterology 1988;94:182-8.
    • (1988) Gastroenterology , vol.94 , pp. 182-188
    • Devroede, G.1    Lemieux, B.2    Masse, S.3


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