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Volumn 21, Issue 9, 2003, Pages 1698-1707

Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN;

EID: 0037797281     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2003.09.118     Document Type: Article
Times cited : (171)

References (42)
  • 1
    • 0024431935 scopus 로고
    • Hereditary adenomatosis of the colon and rectum: Clinical features of eight families from northern Italy
    • Ponz de Leon M, Sassatelli R, Zanghieri G, et al: Hereditary adenomatosis of the colon and rectum: Clinical features of eight families from northern Italy. Am J Gastroenterol 84:906-916, 1989
    • (1989) Am J Gastroenterol , vol.84 , pp. 906-916
    • Ponz de Leon, M.1    Sassatelli, R.2    Zanghieri, G.3
  • 2
    • 0035496104 scopus 로고    scopus 로고
    • APC, signal transduction and genetic instability in colorectal cancer
    • Fodde R, Smits R, Clevers H: APC, signal transduction and genetic instability in colorectal cancer. Nat Rev Cancer 1:55-67, 2001
    • (2001) Nat Rev Cancer , vol.1 , pp. 55-67
    • Fodde, R.1    Smits, R.2    Clevers, H.3
  • 4
    • 0029928160 scopus 로고    scopus 로고
    • APC gene: Database of germline and somatic mutations in human tumors and cell lines
    • Beroud C, Soussi T: APC gene: Database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 24:121-124, 1996
    • (1996) Nucleic Acids Res , vol.24 , pp. 121-124
    • Beroud, C.1    Soussi, T.2
  • 5
    • 0033673154 scopus 로고    scopus 로고
    • The adenomatous polyposis coli (APC) tumour suppressor. Genetics, function and disease
    • Sieber OM, Tomlinson IP, Lamlum H: The adenomatous polyposis coli (APC) tumour suppressor. Genetics, function and disease. Mol Med Today 6:462-469, 2000
    • (2000) Mol Med Today , vol.6 , pp. 462-469
    • Sieber, O.M.1    Tomlinson, I.P.2    Lamlum, H.3
  • 6
    • 0035173781 scopus 로고    scopus 로고
    • Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes
    • Houlston R, Crabtree M, Philipps R, et al: Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes. Gut 48:1-5, 2001
    • (2001) Gut , vol.48 , pp. 1-5
    • Houlston, R.1    Crabtree, M.2    Philipps, R.3
  • 7
    • 0026651826 scopus 로고
    • Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients
    • 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 52:4055-4057, 1992
    • (1992) Cancer Res , vol.52 , pp. 4055-4057
    • Nagase, H.1    Miyoshi, Y.2    Horii, A.3
  • 8
    • 0027344892 scopus 로고
    • Congenital hypertrophy of retinal pigment epithelium (CHRPE) as a marker for familial adenomatous polyposis (FAP)
    • Bertario L, Bandello F, Rossetti C, et al: Congenital hypertrophy of retinal pigment epithelium (CHRPE) as a marker for familial adenomatous polyposis (FAP). Eur J Cancer Prev 2:69-75, 1993
    • (1993) Eur J Cancer Prev , vol.2 , pp. 69-75
    • Bertario, L.1    Bandello, F.2    Rossetti, C.3
  • 9
    • 0029078623 scopus 로고
    • Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis
    • Bunyan DJ, Shea-Simonds J, Reck AC, et al: Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. J Med Genet 32:728-731, 1995
    • (1995) J Med Genet , vol.32 , pp. 728-731
    • Bunyan, D.J.1    Shea-Simonds, J.2    Reck, A.C.3
  • 10
    • 0028943821 scopus 로고
    • Multiplex PCR analysis and genotype-phenotype correlations of frequent APC mutations
    • Cama A, Palmirotta R, Curia MC, et al: Multiplex PCR analysis and genotype-phenotype correlations of frequent APC mutations. Hum Mutat 5:144-152, 1995
    • (1995) Hum Mutat , vol.5 , pp. 144-152
    • Cama, A.1    Palmirotta, R.2    Curia, M.C.3
  • 11
    • 0028213461 scopus 로고
    • Familial adenomatous polyposis: Mutation at codon 1309 and early onset of colon cancer
    • Caspari R, Friedl W, Mandl M, et al: Familial adenomatous polyposis: Mutation at codon 1309 and early onset of colon cancer. Lancet 343:629-632, 1994
    • (1994) Lancet , vol.343 , pp. 629-632
    • Caspari, R.1    Friedl, W.2    Mandl, M.3
  • 12
    • 0028085264 scopus 로고
    • Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli
    • Gayther SA, Wells D, SenGupta SB, et al: Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Hum Mol Genet 3:53-56, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 53-56
    • Gayther, S.A.1    Wells, D.2    SenGupta, S.B.3
  • 13
    • 0028000073 scopus 로고
    • Phenotypic expression in familial adenomatous polyposis: Partial prediction by mutation analysis
    • Nugent KP, Phillips RK, Hodgson SV et al: Phenotypic expression in familial adenomatous polyposis: Partial prediction by mutation analysis. Gut 35:1622-1623, 1994
    • (1994) Gut , vol.35 , pp. 1622-1623
    • Nugent, K.P.1    Phillips, R.K.2    Hodgson, S.V.3
  • 14
    • 0028905406 scopus 로고
    • Familial adenomatous polyposis: Desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444
    • Caspari R, Olschwang S, Friedl W, et al: Familial adenomatous polyposis: Desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 4:337-340, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 337-340
    • Caspari, R.1    Olschwang, S.2    Friedl, W.3
  • 15
    • 0028883366 scopus 로고
    • Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene
    • Davies DR, Armstrong JG, Thakker N, et al: Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am J Hum Genet 57:1151-1158, 1995
    • (1995) Am J Hum Genet , vol.57 , pp. 1151-1158
    • Davies, D.R.1    Armstrong, J.G.2    Thakker, N.3
  • 16
    • 0029446166 scopus 로고
    • Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene
    • Fodde R, Khan PM: Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene. Crit Rev Oncog 6:291-303, 1995
    • (1995) Crit Rev Oncog , vol.6 , pp. 291-303
    • Fodde, R.1    Khan, P.M.2
  • 17
    • 0029897836 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene: A clue for understanding the function of the APC protein
    • Friedl W, Meuschel S, Caspari R, et al: Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene: A clue for understanding the function of the APC protein. Hum Genet 97:579-584, 1996
    • (1996) Hum Genet , vol.97 , pp. 579-584
    • Friedl, W.1    Meuschel, S.2    Caspari, R.3
  • 18
    • 8244252293 scopus 로고    scopus 로고
    • APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis
    • Giardiello FM, Petersen GM, Piantadosi S, et al: APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut 40:521-525, 1997
    • (1997) Gut , vol.40 , pp. 521-525
    • Giardiello, F.M.1    Petersen, G.M.2    Piantadosi, S.3
  • 19
    • 0031781181 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in attenuated adenomatous polyposis coli
    • Soravia C, Berk T, Madlensky L, et al: Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 62:1290-1301, 1998
    • (1998) Am J Hum Genet , vol.62 , pp. 1290-1301
    • Soravia, C.1    Berk, T.2    Madlensky, L.3
  • 20
    • 0033497565 scopus 로고    scopus 로고
    • The relationships between phenotypic expression in patients with familial adenomatous polyposis (FAP) and the site of mutations in the adenomatous polyposis coli (APC) gene
    • Cetta F, Gori M, Baldi C, et al: The relationships between phenotypic expression in patients with familial adenomatous polyposis (FAP) and the site of mutations in the adenomatous polyposis coli (APC) gene. Ann Surg 229:445-446, 1999
    • (1999) Ann Surg , vol.229 , pp. 445-446
    • Cetta, F.1    Gori, M.2    Baldi, C.3
  • 21
    • 0034126868 scopus 로고    scopus 로고
    • Genotype and phenotype factors as determinates for rectal stump cancer in patients with familial adenomatous polyposis. Hereditary Colorectal Tumors Registry
    • Bertario L, Russo A, Radice P, et al: Genotype and phenotype factors as determinates for rectal stump cancer in patients with familial adenomatous polyposis. Hereditary Colorectal Tumors Registry. Ann Surg 23:538-543, 2000
    • (2000) Ann Surg , vol.23 , pp. 538-543
    • Bertario, L.1    Russo, A.2    Radice, P.3
  • 22
    • 0035917003 scopus 로고    scopus 로고
    • Hereditary Colorectal Tumours Registry. Genotype and phenotype factors as determinants of desmoid tumours in patients with familial adenomatous polyposis
    • Bertario L, Russo A, Sala P, et al: Hereditary Colorectal Tumours Registry. Genotype and phenotype factors as determinants of desmoid tumours in patients with familial adenomatous polyposis. Int J Cancer 95:102-107, 2001
    • (2001) Int J Cancer , vol.95 , pp. 102-107
    • Bertario, L.1    Russo, A.2    Sala, P.3
  • 23
    • 0035076731 scopus 로고    scopus 로고
    • Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
    • Friedl W, Caspari R, Sengteller M, et al: Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 48:515-521, 2001
    • (2001) Gut , vol.48 , pp. 515-521
    • Friedl, W.1    Caspari, R.2    Sengteller, M.3
  • 24
    • 15844396571 scopus 로고    scopus 로고
    • Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis
    • Vasen HF, van der Luijt RB, Slors JF, et al: Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis. Lancet 348:433-435, 1996
    • (1996) Lancet , vol.348 , pp. 433-435
    • Vasen, H.F.1    van der Luijt, R.B.2    Slors, J.F.3
  • 25
    • 0032947835 scopus 로고    scopus 로고
    • Molecular analysis of the APC gene in 205 families: Extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
    • Wallis YL, Morton DG, McKeown CM, et al: Molecular analysis of the APC gene in 205 families: Extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 36:14-20, 1999
    • (1999) J Med Genet , vol.36 , pp. 14-20
    • Wallis, Y.L.1    Morton, D.G.2    McKeown, C.M.3
  • 26
    • 0032823133 scopus 로고    scopus 로고
    • The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: A new facet to Knudson's 'two-hit' hypothesis
    • Lamlum H, Ilyas M, Rowan A, et al: The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: A new facet to Knudson's 'two-hit' hypothesis. Nat Med 5:1071-1075, 1999
    • (1999) Nat Med , vol.5 , pp. 1071-1075
    • Lamlum, H.1    Ilyas, M.2    Rowan, A.3
  • 27
    • 0022673130 scopus 로고    scopus 로고
    • Longitudinal data analysis for discrete and continuous outcomes
    • Zeger SL, and Liang KY: Longitudinal data analysis for discrete and continuous outcomes. Biometrics 92:121-130
    • Biometrics , vol.92 , pp. 121-130
    • Zeger, S.L.1    Liang, K.Y.2
  • 29
    • 0035052054 scopus 로고    scopus 로고
    • Duodenal adenomatosis in familial adenomatous coli: A review of the literature and results from the Heidelberg Polyposis Register
    • Kadmon M, Tandara A, Herfarth C: Duodenal adenomatosis in familial adenomatous coli: A review of the literature and results from the Heidelberg Polyposis Register. Int J Colorectal Dis 16:63-75, 2001
    • (2001) Int J Colorectal Dis , vol.16 , pp. 63-75
    • Kadmon, M.1    Tandara, A.2    Herfarth, C.3
  • 30
    • 0036140615 scopus 로고    scopus 로고
    • Genetic predisposition to clinical manifestations in familial adenomatous polyposis with special reference to duodenal lesions
    • Matsumoto T, Lida M, Kobori Y, et al: Genetic predisposition to clinical manifestations in familial adenomatous polyposis with special reference to duodenal lesions. Am J Gastroenterol 97:180-185, 2002
    • (2002) Am J Gastroenterol , vol.97 , pp. 180-185
    • Matsumoto, T.1    Lida, M.2    Kobori, Y.3
  • 31
    • 0034754257 scopus 로고    scopus 로고
    • Periampullary adenomas and adenocarcinoma in familial adenomatous polyposis: Cumulative risks and APC gene mutations
    • Bjork J, Akerbrant H, Iselus L, et al: Periampullary adenomas and adenocarcinoma in familial adenomatous polyposis: Cumulative risks and APC gene mutations. Gastroenterology 121:1127-1135, 2001
    • (2001) Gastroenterology , vol.121 , pp. 1127-1135
    • Bjork, J.1    Akerbrant, H.2    Iselus, L.3
  • 32
    • 0027769633 scopus 로고
    • Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
    • Olschwang S, Tiret A, Laurent-Puig P, et al: Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75:959-968, 1993
    • (1993) Cell , vol.75 , pp. 959-968
    • Olschwang, S.1    Tiret, A.2    Laurent-Puig, P.3
  • 33
    • 0028091260 scopus 로고
    • Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis
    • Hodgson SV, Bishop DT, Jay B: Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis. Med Genet 31:55-58, 1994
    • (1994) Med Genet , vol.31 , pp. 55-58
    • Hodgson, S.V.1    Bishop, D.T.2    Jay, B.3
  • 34
    • 0028245099 scopus 로고
    • Causes of death and postsurgical survival in familial adenomatous polyposis: Results from the Italian Registry
    • Bertario L, Presciuttini S, Sala P, et al: Causes of death and postsurgical survival in familial adenomatous polyposis: Results from the Italian Registry. Semin Surg Oncol 10:225-234, 1994
    • (1994) Semin Surg Oncol , vol.10 , pp. 225-234
    • Bertario, L.1    Presciuttini, S.2    Sala, P.3
  • 35
    • 0032855911 scopus 로고    scopus 로고
    • Mechanisms of APC-driven tumorigenesis: Lessons from mouse models
    • Fodde R, Smits R, Hofland N, et al: Mechanisms of APC-driven tumorigenesis: Lessons from mouse models. Cytogenet Cell Genet 86:105-111, 1999
    • (1999) Cytogenet Cell Genet , vol.86 , pp. 105-111
    • Fodde, R.1    Smits, R.2    Hofland, N.3
  • 36
    • 0028271193 scopus 로고
    • Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation
    • Giardiello FM, Krush AJ, Petersen GM, et al: Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology 106:1542-1547, 1994
    • (1994) Gastroenterology , vol.106 , pp. 1542-1547
    • Giardiello, F.M.1    Krush, A.J.2    Petersen, G.M.3
  • 37
    • 0036719949 scopus 로고    scopus 로고
    • Explaining variation in familial adenomatous polyposis: Relationship between genotype and phenotype and evidence for modifier genes
    • Crabtree MD, Tomlinson IPM, Hodgson SV, et al: Explaining variation in familial adenomatous polyposis: Relationship between genotype and phenotype and evidence for modifier genes. Gut 51:420-423, 2002
    • (2002) Gut , vol.51 , pp. 420-423
    • Crabtree, M.D.1    Tomlinson, I.P.M.2    Hodgson, S.V.3
  • 38
    • 0032805969 scopus 로고    scopus 로고
    • Germline and somatic mutations in exon 15 of the APC gene and K-ras mutations in duodenal adenomas in patients with familial adenomatous polyposis
    • Andersen S, Lovig T, Fausa O, et al: Germline and somatic mutations in exon 15 of the APC gene and K-ras mutations in duodenal adenomas in patients with familial adenomatous polyposis. Scand J Gastroenterol 34:611-617, 1999
    • (1999) Scand J Gastroenterol , vol.34 , pp. 611-617
    • Andersen, S.1    Lovig, T.2    Fausa, O.3
  • 39
    • 0033983817 scopus 로고    scopus 로고
    • APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis
    • Ficari F, Cama A, Valanzano R, et al: APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis. Br J Cancer 82:348-353, 2000
    • (2000) Br J Cancer , vol.82 , pp. 348-353
    • Ficari, F.1    Cama, A.2    Valanzano, R.3
  • 40
    • 0029988204 scopus 로고    scopus 로고
    • A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36
    • Tomlinson IP, Neale K, Talbot IC, et al: A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36. J Med Genet 33:268-273, 1996
    • (1996) J Med Genet , vol.33 , pp. 268-273
    • Tomlinson, I.P.1    Neale, K.2    Talbot, I.C.3
  • 41
    • 0030943734 scopus 로고    scopus 로고
    • Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis
    • Dobbie Z, Heinimann K, Bishop DT, et al: Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis. Hum Genet 99:653-657, 1997
    • (1997) Hum Genet , vol.99 , pp. 653-657
    • Dobbie, Z.1    Heinimann, K.2    Bishop, D.T.3
  • 42
    • 0031417424 scopus 로고    scopus 로고
    • Suppression of intestinal polyp development by low-fat and high-fiber diet in APC (delta 716) knockout mice
    • Hioki K, Shivapurkar N, Oshima H, et al: Suppression of intestinal polyp development by low-fat and high-fiber diet in APC (delta 716) knockout mice. Carcinogenesis 18:1863-1865, 1997
    • (1997) Carcinogenesis , vol.18 , pp. 1863-1865
    • Hioki, K.1    Shivapurkar, N.2    Oshima, H.3


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