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Volumn 6, Issue 9, 2011, Pages

Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOUS POLYP; ADOLESCENT; ADULT; AGED; APC GENE; ARTICLE; CHILD; CHROMOSOME 20Q; CHROMOSOME 5Q; CHROMOSOME 6Q; CHROMOSOME 8Q; CHROMOSOME ADDITION; CHROMOSOME LOSS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CTNNB1 GENE; DESMOID TUMOR; DISEASE ASSOCIATION; FAMILIAL ADENOMATOUS POLYPOSIS; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRESCHOOL CHILD; SCHOOL CHILD; SOMATIC MUTATION; ABDOMINAL TUMOR; CHROMOSOME 5; CHROMOSOME 6; COLON POLYPOSIS; FIBROMATOSIS; GENE DOSAGE; GENETICS; MIDDLE AGED; NEWBORN;

EID: 80052566953     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0024354     Document Type: Article
Times cited : (21)

References (40)
  • 1
    • 0029950499 scopus 로고    scopus 로고
    • Desmoids in familial adenomatous polyposis
    • Clark SK, Phillips RK, (1996) Desmoids in familial adenomatous polyposis. Br J Surg 83: 1494-1504.
    • (1996) Br J Surg , vol.83 , pp. 1494-1504
    • Clark, S.K.1    Phillips, R.K.2
  • 2
    • 77957347778 scopus 로고    scopus 로고
    • Aggressive fibromatosis (desmoid tumor) is derived from mesenchymal progenitor cells
    • Wu C, Nik-Amini S, Nadesan P, Stanford WL, Alman BA, (2010) Aggressive fibromatosis (desmoid tumor) is derived from mesenchymal progenitor cells. Cancer Res 70: 7690-7698.
    • (2010) Cancer Res , vol.70 , pp. 7690-7698
    • Wu, C.1    Nik-Amini, S.2    Nadesan, P.3    Stanford, W.L.4    Alman, B.A.5
  • 3
    • 33744741054 scopus 로고    scopus 로고
    • Desmoid tumors - a characterization of patients seen at Mayo Clinic 1976-1999
    • Fallen T, Wilson M, Morlan B, Lindor NM, (2006) Desmoid tumors - a characterization of patients seen at Mayo Clinic 1976-1999. Fam Cancer 5: 191-194.
    • (2006) Fam Cancer , vol.5 , pp. 191-194
    • Fallen, T.1    Wilson, M.2    Morlan, B.3    Lindor, N.M.4
  • 4
    • 57549089267 scopus 로고    scopus 로고
    • The role of APC and beta-catenin in the etiology of aggressive fibromatosis (desmoid tumors)
    • Lips DJ, Barker N, Clevers H, Hennipman A, (2009) The role of APC and beta-catenin in the etiology of aggressive fibromatosis (desmoid tumors). Eur J Surg Oncol 35: 3-10.
    • (2009) Eur J Surg Oncol , vol.35 , pp. 3-10
    • Lips, D.J.1    Barker, N.2    Clevers, H.3    Hennipman, A.4
  • 5
    • 0029446166 scopus 로고
    • Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene
    • Fodde R, Khan PM, (1995) Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene. Crit Rev Oncog 6: 291-303.
    • (1995) Crit Rev Oncog , vol.6 , pp. 291-303
    • Fodde, R.1    Khan, P.M.2
  • 6
    • 0027503873 scopus 로고
    • Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis
    • Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Tanaka K, et al. (1993) Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis. Cancer Res 53: 5079-5082.
    • (1993) Cancer Res , vol.53 , pp. 5079-5082
    • Miyaki, M.1    Konishi, M.2    Kikuchi-Yanoshita, R.3    Enomoto, M.4    Tanaka, K.5
  • 8
    • 33846509424 scopus 로고    scopus 로고
    • APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'
    • Latchford A, Volikos E, Johnson V, Rogers P, Suraweera N, et al. (2007) APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'. Hum Mol Genet 16: 78-82.
    • (2007) Hum Mol Genet , vol.16 , pp. 78-82
    • Latchford, A.1    Volikos, E.2    Johnson, V.3    Rogers, P.4    Suraweera, N.5
  • 9
    • 0035496104 scopus 로고    scopus 로고
    • APC, signal transduction and genetic instability in colorectal cancer
    • Fodde R, Smits R, Clevers H, (2001) APC, signal transduction and genetic instability in colorectal cancer. Nat Rev Cancer 1: 55-67.
    • (2001) Nat Rev Cancer , vol.1 , pp. 55-67
    • Fodde, R.1    Smits, R.2    Clevers, H.3
  • 10
    • 19244364521 scopus 로고    scopus 로고
    • Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene
    • Eccles DM, Van der Luijt R, Breukel C, Bullman H, Bunyan D, et al. (1996) Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 59: 1193-1201.
    • (1996) Am J Hum Genet , vol.59 , pp. 1193-1201
    • Eccles, D.M.1    van der Luijt, R.2    Breukel, C.3    Bullman, H.4    Bunyan, D.5
  • 11
    • 6844252957 scopus 로고    scopus 로고
    • Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli
    • Van der Luijt RB, Meera Khan P, Vasen HF, Breukel C, Tops CM, et al. (1996) Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 98: 727-734.
    • (1996) Hum Genet , vol.98 , pp. 727-734
    • van der Luijt, R.B.1    Meera Khan, P.2    Vasen, H.F.3    Breukel, C.4    Tops, C.M.5
  • 12
    • 0033547361 scopus 로고    scopus 로고
    • Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor)
    • Tejpar S, Nollet F, Li C, Wunder JS, Michils G, et al. (1999) Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene 18: 6615-6620.
    • (1999) Oncogene , vol.18 , pp. 6615-6620
    • Tejpar, S.1    Nollet, F.2    Li, C.3    Wunder, J.S.4    Michils, G.5
  • 13
    • 0035816273 scopus 로고    scopus 로고
    • Tcf-3 expression and β-catenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour)
    • Tejpar S, Li C, Yu C, Poon R, Denys H, et al. (2001) Tcf-3 expression and β-catenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour). Br J Cancer 85: 98-101.
    • (2001) Br J Cancer , vol.85 , pp. 98-101
    • Tejpar, S.1    Li, C.2    Yu, C.3    Poon, R.4    Denys, H.5
  • 16
    • 0032997840 scopus 로고    scopus 로고
    • Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone
    • Bridge JA, Swarts SJ, Buresh C, Nelson M, Degenhardt JM, et al. (1999) Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. Am J Pathol 154: 729-733.
    • (1999) Am J Pathol , vol.154 , pp. 729-733
    • Bridge, J.A.1    Swarts, S.J.2    Buresh, C.3    Nelson, M.4    Degenhardt, J.M.5
  • 17
    • 0033794514 scopus 로고    scopus 로고
    • Cytogenetic, clinical, and morphologic correlations in 78 cases of fibromatosis: a report from the CHAMP study group
    • De Wever I, Dal Cin P, Fletcher CDM, Mandahl N, Mertens F, et al. (2000) Cytogenetic, clinical, and morphologic correlations in 78 cases of fibromatosis: a report from the CHAMP study group. Mod Pathol 13: 1080-1085.
    • (2000) Mod Pathol , vol.13 , pp. 1080-1085
    • de Wever, I.1    Dal Cin, P.2    Fletcher, C.D.M.3    Mandahl, N.4    Mertens, F.5
  • 19
    • 77952051107 scopus 로고    scopus 로고
    • Molecular characterization by array comparative genomic hybridization and DNA sequencing of 194 desmoid tumors
    • Salas S, Chibon F, Noguchi T, Terrier P, Ranchere-Vince D, et al. (2010) Molecular characterization by array comparative genomic hybridization and DNA sequencing of 194 desmoid tumors. Genes Chromosomes Cancer 49: 560-568.
    • (2010) Genes Chromosomes Cancer , vol.49 , pp. 560-568
    • Salas, S.1    Chibon, F.2    Noguchi, T.3    Terrier, P.4    Ranchere-Vince, D.5
  • 20
    • 11244296169 scopus 로고    scopus 로고
    • Insights from genomic microarrays into structural chromosome rearrangements
    • Knijnenburg J, Szuhai K, Giltay J, Molenaar L, Sloos W, et al. (2005) Insights from genomic microarrays into structural chromosome rearrangements. Am J Med Genet 132A: 36-40.
    • (2005) Am J Med Genet , vol.132 A , pp. 36-40
    • Knijnenburg, J.1    Szuhai, K.2    Giltay, J.3    Molenaar, L.4    Sloos, W.5
  • 21
    • 9444223586 scopus 로고    scopus 로고
    • Breakpoint identification and smoothing of array comparative genomic hybridization data
    • Jong K, Marchiori E, Meijer G, Van der Vaart A, Ylstra B, (2004) Breakpoint identification and smoothing of array comparative genomic hybridization data. Bioinformatics 20: 3636-3637.
    • (2004) Bioinformatics , vol.20 , pp. 3636-3637
    • Jong, K.1    Marchiori, E.2    Meijer, G.3    van der Vaart, A.4    Ylstra, B.5
  • 22
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleid Acids Res 30 (12): e57.
    • (2002) Nucleid Acids Res , vol.30 , Issue.12
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5
  • 23
    • 3042824616 scopus 로고    scopus 로고
    • Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
    • White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, et al. (2004) Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 24: 86-92.
    • (2004) Hum Mutat , vol.24 , pp. 86-92
    • White, S.J.1    Vink, G.R.2    Kriek, M.3    Wuyts, W.4    Schouten, J.5
  • 24
    • 77949558532 scopus 로고    scopus 로고
    • MLPAinter for MLPA interpretation: an integrated approach for the analysis, visualisation and data management of Multiplex Ligation-dependent Probe Amplification
    • Van Eijck R, Eilers PHC, Natté R, Cleton-Jansen A-M, Morreau H, et al. (2010) MLPAinter for MLPA interpretation: an integrated approach for the analysis, visualisation and data management of Multiplex Ligation-dependent Probe Amplification. BMC Bioinformatics 11: 67.
    • (2010) BMC Bioinformatics , vol.11 , pp. 67
    • van Eijck, R.1    Eilers, P.H.C.2    Natté, R.3    Cleton-Jansen, A.-M.4    Morreau, H.5
  • 25
    • 0035070046 scopus 로고    scopus 로고
    • Mutations in the APC tumour suppressor gene cause chromosomal instability
    • Fodde R, Kuipers J, Rosenberg C, Smits R, Kielman M, et al. (2001) Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat Cell Biol 3: 433-438.
    • (2001) Nat Cell Biol , vol.3 , pp. 433-438
    • Fodde, R.1    Kuipers, J.2    Rosenberg, C.3    Smits, R.4    Kielman, M.5
  • 26
    • 0028922626 scopus 로고
    • Chromosome aberrations in desmoid tumors. Trisomy 8 may be a predictor of recurrence
    • Fletcher JA, Naeem R, Xiao S, Corson JM, (1995) Chromosome aberrations in desmoid tumors. Trisomy 8 may be a predictor of recurrence. Cancer Genet Cytogenet 79: 139-143.
    • (1995) Cancer Genet Cytogenet , vol.79 , pp. 139-143
    • Fletcher, J.A.1    Naeem, R.2    Xiao, S.3    Corson, J.M.4
  • 27
    • 34247488762 scopus 로고    scopus 로고
    • Chromosomal 20q gain in the DNA diploid component of aneuploid colorectal carcinomas
    • De Angelis PM, Stokke T, Beigi M, Flatberg G, Enger M, et al. (2007) Chromosomal 20q gain in the DNA diploid component of aneuploid colorectal carcinomas. Int J Cancer 120: 2734-2738.
    • (2007) Int J Cancer , vol.120 , pp. 2734-2738
    • de Angelis, P.M.1    Stokke, T.2    Beigi, M.3    Flatberg, G.4    Enger, M.5
  • 29
    • 70349269042 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy-number aberrations of chromosomes 8, 13, and 20 in gastric cancers
    • Buffart TE, Van Grieken NCT, Tijssen M, Coffa J, Ylstra B, et al. (2009) High resolution analysis of DNA copy-number aberrations of chromosomes 8, 13, and 20 in gastric cancers. Virchows Arch 455: 213-223.
    • (2009) Virchows Arch , vol.455 , pp. 213-223
    • Buffart, T.E.1    van Grieken, N.C.T.2    Tijssen, M.3    Coffa, J.4    Ylstra, B.5
  • 30
    • 33751071863 scopus 로고    scopus 로고
    • Impact of trisomy 8 on expression of genes located on chromosome 8 in different AML subgroups
    • Schoch C, Kohlmann A, Dugas M, Kern W, Schnittger S, et al. (2006) Impact of trisomy 8 on expression of genes located on chromosome 8 in different AML subgroups. Genes Chromosomes Cancer 45: 1164-1168.
    • (2006) Genes Chromosomes Cancer , vol.45 , pp. 1164-1168
    • Schoch, C.1    Kohlmann, A.2    Dugas, M.3    Kern, W.4    Schnittger, S.5
  • 31
    • 0032521433 scopus 로고    scopus 로고
    • Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer
    • Sparks AB, Morin PJ, Vogelstein B, Kinzler KW, (1998) Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer. Cancer Res 58: 1130-1134.
    • (1998) Cancer Res , vol.58 , pp. 1130-1134
    • Sparks, A.B.1    Morin, P.J.2    Vogelstein, B.3    Kinzler, K.W.4
  • 33
    • 77957991620 scopus 로고    scopus 로고
    • Repression of Wnt signaling by a Fer-type nonreceptor tyrosine kinase
    • Putzke AP, Rothman JH, (2010) Repression of Wnt signaling by a Fer-type nonreceptor tyrosine kinase. Proc. Natl. Acad. Sci. U S A 107: 16154-16159.
    • (2010) Proc. Natl. Acad. Sci U S A , vol.107 , pp. 16154-16159
    • Putzke, A.P.1    Rothman, J.H.2
  • 34
    • 0037102507 scopus 로고    scopus 로고
    • The ankyrin repeat protein Diversin recruits Casein kinase Iε to the β-catenin degradation complex and acts in both canonical Wnt and Wnt/JNK signaling
    • Schwarz-Romond T, Asbrand C, Bakkers J, Kühl M, Schaeffer H-J, et al. (2002) The ankyrin repeat protein Diversin recruits Casein kinase Iε to the β-catenin degradation complex and acts in both canonical Wnt and Wnt/JNK signaling. Genes Dev 16: 2073-2084.
    • (2002) Genes Dev , vol.16 , pp. 2073-2084
    • Schwarz-Romond, T.1    Asbrand, C.2    Bakkers, J.3    Kühl, M.4    Schaeffer, H.-J.5
  • 35
    • 0034601391 scopus 로고    scopus 로고
    • Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15
    • Sasaki S, Ito E, Toki T, Maekawa T, Kanezaki R, et al. (2000) Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15. Oncogene 19: 3739-3749.
    • (2000) Oncogene , vol.19 , pp. 3739-3749
    • Sasaki, S.1    Ito, E.2    Toki, T.3    Maekawa, T.4    Kanezaki, R.5
  • 36
    • 34548832771 scopus 로고    scopus 로고
    • Deletion of a small consensus region at 6q15, including the MAP3K7 gene, is significantly associated with high-grade prostate cancers
    • Liu W, Chang B-L, Cramer S, Koty PP, Li T, et al. (2007) Deletion of a small consensus region at 6q15, including the MAP3K7 gene, is significantly associated with high-grade prostate cancers. Clin Cancer Res 13: 5028-5033.
    • (2007) Clin Cancer Res , vol.13 , pp. 5028-5033
    • Liu, W.1    Chang, B.-L.2    Cramer, S.3    Koty, P.P.4    Li, T.5
  • 37
    • 21744443473 scopus 로고    scopus 로고
    • Ephrin signalling controls brain size by regulating apoptosis of neural progenitors
    • Depaepe V, Suarez-Gonzalez N, Dufour A, Passante L, Gorski JA, et al. (2005) Ephrin signalling controls brain size by regulating apoptosis of neural progenitors. Nature 435: 1244-1250.
    • (2005) Nature , vol.435 , pp. 1244-1250
    • Depaepe, V.1    Suarez-Gonzalez, N.2    Dufour, A.3    Passante, L.4    Gorski, J.A.5
  • 38
    • 77951213966 scopus 로고    scopus 로고
    • A novel LZAP-binding protein, NLBP, inhibits cell invasion
    • Kwon J, Cho HJ, Han SH, No JG, Kwon JY, et al. (2010) A novel LZAP-binding protein, NLBP, inhibits cell invasion. J Biol Chem 285: 12232-12240.
    • (2010) J Biol Chem , vol.285 , pp. 12232-12240
    • Kwon, J.1    Cho, H.J.2    Han, S.H.3    No, J.G.4    Kwon, J.Y.5
  • 39
    • 67650465624 scopus 로고    scopus 로고
    • LSAMP, a novel candidate tumor suppressor gene in human osteosarcomas, identified by array comparative genomic hybridization
    • Kresse SH, Ohnstad HO, Paulsen EB, Bjerkehagen B, Szuhai K, et al. (2009) LSAMP, a novel candidate tumor suppressor gene in human osteosarcomas, identified by array comparative genomic hybridization. Genes Chromosomes Cancer 48: 679-693.
    • (2009) Genes Chromosomes Cancer , vol.48 , pp. 679-693
    • Kresse, S.H.1    Ohnstad, H.O.2    Paulsen, E.B.3    Bjerkehagen, B.4    Szuhai, K.5
  • 40
    • 70349235938 scopus 로고    scopus 로고
    • High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-β and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response
    • Remke M, Pfister S, Kox C, Toedt G, Becker N, et al. (2009) High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-β and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response. Blood 114: 1053-1062.
    • (2009) Blood , vol.114 , pp. 1053-1062
    • Remke, M.1    Pfister, S.2    Kox, C.3    Toedt, G.4    Becker, N.5


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