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Volumn 41, Issue 3, 2007, Pages 297-300

3′ Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors

Author keywords

3 mutation; APC gene; Desmoid tumors; Familial adenomatous polyposis; Sporadic

Indexed keywords

DESMIN; ETOPOSIDE; METHOTREXATE; SMOOTH MUSCLE ACTIN; TAMOXIFEN; VIMENTIN;

EID: 33847406225     PISSN: 01920790     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCG.0b013e3180325252     Document Type: Article
Times cited : (13)

References (21)
  • 1
    • 0023520980 scopus 로고
    • Occurrence of desmoids in patients with familial adenomatous polyposis of the colon
    • Klemmer S, Pascoe L, Decosse J. Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet. 1987;28:385-392.
    • (1987) Am J Med Genet , vol.28 , pp. 385-392
    • Klemmer, S.1    Pascoe, L.2    Decosse, J.3
  • 2
    • 0029912928 scopus 로고    scopus 로고
    • Changing causes of mortality in patients with familial adenomatous polyposis
    • Belchetz LA, Berk T, Bapat BV, et al. Changing causes of mortality in patients with familial adenomatous polyposis. Dis Colon Rectum. 1996;39:384-387.
    • (1996) Dis Colon Rectum , vol.39 , pp. 384-387
    • Belchetz, L.A.1    Berk, T.2    Bapat, B.V.3
  • 3
    • 3843152626 scopus 로고    scopus 로고
    • The complex genotype-phenotype relationship in familial adenomatous polyposis
    • Jarvinen HJ, Paivi P. The complex genotype-phenotype relationship in familial adenomatous polyposis. Eur J Gastroenterol Hepatol. 2004;16:5-8.
    • (2004) Eur J Gastroenterol Hepatol , vol.16 , pp. 5-8
    • Jarvinen, H.J.1    Paivi, P.2
  • 4
    • 0025183118 scopus 로고
    • Mortality in patients with familial adenomatous polyposis
    • Arvanitis ML, Jagelman DG, Fazio VW, et al. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum. 1990;33:639-642.
    • (1990) Dis Colon Rectum , vol.33 , pp. 639-642
    • Arvanitis, M.L.1    Jagelman, D.G.2    Fazio, V.W.3
  • 5
    • 19244364521 scopus 로고    scopus 로고
    • Hereditary desmoid disease due to a 3′ frame shift mutation at codon 1924 of the APC gene
    • Eccles DM, Van der Luijt RB, Breukel C, et al. Hereditary desmoid disease due to a 3′ frame shift mutation at codon 1924 of the APC gene. Am J Hum Genet. 1996;59:1193-1201.
    • (1996) Am J Hum Genet , vol.59 , pp. 1193-1201
    • Eccles, D.M.1    Van der Luijt, R.B.2    Breukel, C.3
  • 6
    • 0029849048 scopus 로고    scopus 로고
    • Familial infiltrative fibromatosis (desmoid tumors) (MIMI135290) caused by a recurrent 3′ APC gene mutation
    • Scott RJ, Froggat NJ, Trembath R, et al. Familial infiltrative fibromatosis (desmoid tumors) (MIMI135290) caused by a recurrent 3′ APC gene mutation. Hum Mol Genet. 1996;5:1921-1924.
    • (1996) Hum Mol Genet , vol.5 , pp. 1921-1924
    • Scott, R.J.1    Froggat, N.J.2    Trembath, R.3
  • 7
    • 0034075935 scopus 로고    scopus 로고
    • A germline mutation at the extreme 3′ end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor
    • Couture J, Mitri A, Lagace R, et al. A germline mutation at the extreme 3′ end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. Clin Genet. 2000;57:205-212.
    • (2000) Clin Genet , vol.57 , pp. 205-212
    • Couture, J.1    Mitri, A.2    Lagace, R.3
  • 8
    • 0032993456 scopus 로고    scopus 로고
    • Hereditary desmoid disease in a family with germline Alu I repeat mutation of the APC gene
    • Halling KC, Lazzaro CR, Honchel R, et al. Hereditary desmoid disease in a family with germline Alu I repeat mutation of the APC gene. Hum Hered. 1999;49:97-102.
    • (1999) Hum Hered , vol.49 , pp. 97-102
    • Halling, K.C.1    Lazzaro, C.R.2    Honchel, R.3
  • 9
    • 0035542935 scopus 로고    scopus 로고
    • A novel 3′ mutation in the APC gene in a family presenting with desmoid tumor
    • Eccles D, Harvey J, Bateman A, et al. A novel 3′ mutation in the APC gene in a family presenting with desmoid tumor. J Med Genet. 2001;38:861-863.
    • (2001) J Med Genet , vol.38 , pp. 861-863
    • Eccles, D.1    Harvey, J.2    Bateman, A.3
  • 10
    • 3042573802 scopus 로고    scopus 로고
    • Comprehensive genetic and endoscopic evaluation may be necessary to distinguish sporadic versus familial adenomatous polyposis-associated abdominal desmoid tumors
    • Bandipalliam P, Balmana J, Syngal S. Comprehensive genetic and endoscopic evaluation may be necessary to distinguish sporadic versus familial adenomatous polyposis-associated abdominal desmoid tumors. Surgery. 2004;135:683-689.
    • (2004) Surgery , vol.135 , pp. 683-689
    • Bandipalliam, P.1    Balmana, J.2    Syngal, S.3
  • 11
    • 0028905406 scopus 로고
    • Familial adenomatous polyposis: Desmoid tumors 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 tumors and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet. 1995;4:337-340.
    • (1995) Hum Mol Genet , vol.4 , pp. 337-340
    • Caspari, R.1    Olschwang, S.2    Friedl, W.3
  • 12
    • 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. 2001;48:515-521.
    • (2001) Gut , vol.48 , pp. 515-521
    • Friedl, W.1    Caspari, R.2    Sengteller, M.3
  • 13
    • 0035917003 scopus 로고    scopus 로고
    • Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis
    • Bertario L, Russo A, Sala P, et al. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer. 2001;95:102-107.
    • (2001) Int J Cancer , vol.95 , pp. 102-107
    • Bertario, L.1    Russo, A.2    Sala, P.3
  • 14
    • 0026587397 scopus 로고
    • Phenotypic variation in hereditary nonpolyposis colon cancer syndrome. Association with infiltrative fibromatosis (desmoid tumor)
    • Maher ER, Morson B, Beach R, et al. Phenotypic variation in hereditary nonpolyposis colon cancer syndrome. Association with infiltrative fibromatosis (desmoid tumor). Cancer. 1992;69:2049-2051.
    • (1992) Cancer , vol.69 , pp. 2049-2051
    • Maher, E.R.1    Morson, B.2    Beach, R.3
  • 15
    • 0027793099 scopus 로고
    • Extra-abdominal desmoid tumor. Diagnostic, prognostic and therapeutic aspects
    • Grange F, Avril MF, Margulis A, et al. Extra-abdominal desmoid tumor. Diagnostic, prognostic and therapeutic aspects. Ann Dermatol Venereol. 1993;120:679-683.
    • (1993) Ann Dermatol Venereol , vol.120 , pp. 679-683
    • Grange, F.1    Avril, M.F.2    Margulis, A.3
  • 16
    • 0027724691 scopus 로고
    • Alleles of the APC gene: An attenuated form of familial polyposis
    • Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell. 1993;75:951-957.
    • (1993) Cell , vol.75 , pp. 951-957
    • Spirio, L.1    Olschwang, S.2    Groden, J.3
  • 17
    • 0036103113 scopus 로고    scopus 로고
    • Genetic and clinical characterisation of familial adenomatous popyposis; a population-based study
    • Moisio A-L, Järvinen H, Peltomäki P. Genetic and clinical characterisation of familial adenomatous popyposis; a population-based study. Gut. 2002;50:845-850.
    • (2002) Gut , vol.50 , pp. 845-850
    • Moisio, A.-L.1    Järvinen, H.2    Peltomäki, P.3
  • 18
    • 0031902681 scopus 로고    scopus 로고
    • Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumors
    • Giarola M, Wells D, Mondini P, et al. Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumors. Br J Cancer. 1998;78:582-587.
    • (1998) Br J Cancer , vol.78 , pp. 582-587
    • Giarola, M.1    Wells, D.2    Mondini, P.3
  • 19
    • 21244463567 scopus 로고    scopus 로고
    • Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma
    • Brueckl WM, Ballhausen WG, Fortsch T, et al. Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma. Dis Colon Rectum. 2005;48:1275-1281.
    • (2005) Dis Colon Rectum , vol.48 , pp. 1275-1281
    • Brueckl, W.M.1    Ballhausen, W.G.2    Fortsch, T.3
  • 20
    • 0030747976 scopus 로고    scopus 로고
    • Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors)
    • Alman BA, Li C, Pajerski ME, et al. Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol. 1997;151:329-334.
    • (1997) Am J Pathol , vol.151 , pp. 329-334
    • Alman, B.A.1    Li, C.2    Pajerski, M.E.3
  • 21
    • 0032851066 scopus 로고    scopus 로고
    • A novel case of a sporadic desmoid tumor with mutation of the B catenin
    • Shitoh K, Konishi F, Lijima T, et al. A novel case of a sporadic desmoid tumor with mutation of the B catenin. J Clin Pathol. 1999;52:695-696.
    • (1999) J Clin Pathol , vol.52 , pp. 695-696
    • Shitoh, K.1    Konishi, F.2    Lijima, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.