메뉴 건너뛰기




Volumn 37, Issue 8, 2016, Pages 11421-11427

Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis

Author keywords

Adenomatous polyposis coli; Colorectal cancer; Familial adenomatous polyposis; Immunohistochemistry; Mutation analysis

Indexed keywords

APC PROTEIN; BETA CATENIN; GENOMIC DNA; APC PROTEIN, HUMAN;

EID: 84961798393     PISSN: 10104283     EISSN: 14230380     Source Type: Journal    
DOI: 10.1007/s13277-016-4986-1     Document Type: Article
Times cited : (12)

References (28)
  • 1
    • 84900330220 scopus 로고    scopus 로고
    • A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing
    • COI: 1:CAS:528:DC%2BC2cXmvVWrsrc%3D, PID: 24735542
    • Zhang Y, Lu G, Hu Q, Wang X, Li C, Mao Y, et al. A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing. Biochem Biophys Res Commun. 2014;447(3):503–7.
    • (2014) Biochem Biophys Res Commun , vol.447 , Issue.3 , pp. 503-507
    • Zhang, Y.1    Lu, G.2    Hu, Q.3    Wang, X.4    Li, C.5    Mao, Y.6
  • 3
    • 84983095651 scopus 로고    scopus 로고
    • Complex APC germline mutation associated metaplasia and intraepithelial neoplasia (CAM-IEN) of the gallbladder
    • PID: 26643927
    • Böger C, Haag J, Egberts JH, Röcken C. Complex APC germline mutation associated metaplasia and intraepithelial neoplasia (CAM-IEN) of the gallbladder. Pathol Res Pract. 2016;212(1):54–8.
    • (2016) Pathol Res Pract , vol.212 , Issue.1 , pp. 54-58
    • Böger, C.1    Haag, J.2    Egberts, J.H.3    Röcken, C.4
  • 4
    • 0025938038 scopus 로고
    • Identification and characterization of the familial adenomatous polyposis coli gene
    • COI: 1:CAS:528:DyaK3MXmt1Gitr8%3D, PID: 1651174
    • Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66:589–600.
    • (1991) Cell , vol.66 , pp. 589-600
    • Groden, J.1    Thliveris, A.2    Samowitz, W.3    Carlson, M.4    Gelbert, L.5    Albertsen, H.6
  • 5
    • 84890672792 scopus 로고    scopus 로고
    • A new germline stop codon mutation in exon 15 of the APC gene predisposing to familial adenomatous polyposis
    • COI: 1:CAS:528:DC%2BC2cXhtl2rtr%2FO, PID: 23873622
    • Schirosi L, Pellegrino M, Tarantino P, Mauro S, Tinelli A, Greco M. A new germline stop codon mutation in exon 15 of the APC gene predisposing to familial adenomatous polyposis. Int J Biol Markers. 2013;28(4):e405–8.
    • (2013) Int J Biol Markers , vol.28 , Issue.4 , pp. e405-e408
    • Schirosi, L.1    Pellegrino, M.2    Tarantino, P.3    Mauro, S.4    Tinelli, A.5    Greco, M.6
  • 6
    • 84902440272 scopus 로고    scopus 로고
    • The tumor suppressor APC differentially regulates multiple beta-catenins through the function of axin and casein kinase 1alpha during C. elegans asymmetric stem cell divisions
    • COI: 1:CAS:528:DC%2BC2cXhtFyrt7vO, PID: 24762815
    • Baldwin AT, Phillips BT. The tumor suppressor APC differentially regulates multiple beta-catenins through the function of axin and casein kinase 1alpha during C. elegans asymmetric stem cell divisions. J Cell Sci. 2014;127(Pt12):2771–81.
    • (2014) J Cell Sci , vol.127 , Issue.Pt12 , pp. 2771-2781
    • Baldwin, A.T.1    Phillips, B.T.2
  • 7
    • 84893935584 scopus 로고    scopus 로고
    • MicroRNA-27 promotes the differentiation of odontoblastic cell by targeting APC and activating Wnt/β-catenin signaling
    • COI: 1:CAS:528:DC%2BC2cXitFOlur4%3D, PID: 24487055
    • Park MG, Kim JS, Park SY, Lee SA, Kim HJ, Kim CS, et al. MicroRNA-27 promotes the differentiation of odontoblastic cell by targeting APC and activating Wnt/β-catenin signaling. Gene. 2014;538(2):266–72.
    • (2014) Gene , vol.538 , Issue.2 , pp. 266-272
    • Park, M.G.1    Kim, J.S.2    Park, S.Y.3    Lee, S.A.4    Kim, H.J.5    Kim, C.S.6
  • 8
    • 84861705489 scopus 로고    scopus 로고
    • Regulation of the metabolite profile by an APC gene mutation in colorectal cancer
    • COI: 1:CAS:528:DC%2BC38XnslKhtr8%3D, PID: 22380946
    • Yoshie T, Nishiumi S, Izumi Y, Sakai A, Inoue J, Azuma T, et al. Regulation of the metabolite profile by an APC gene mutation in colorectal cancer. Cancer Sci. 2012;103(6):1010–21.
    • (2012) Cancer Sci , vol.103 , Issue.6 , pp. 1010-1021
    • Yoshie, T.1    Nishiumi, S.2    Izumi, Y.3    Sakai, A.4    Inoue, J.5    Azuma, T.6
  • 9
    • 84867038036 scopus 로고    scopus 로고
    • Copy number variation of the APC gene is associated with regulation of bone mineral density
    • COI: 1:CAS:528:DC%2BC38Xht1ekur%2FL, PID: 22884971
    • Chew S, Dastani Z, Brown SJ, Lewis JR, Dudbridge F, Soranzo N, et al. Copy number variation of the APC gene is associated with regulation of bone mineral density. Bone. 2012;51(5):939–43.
    • (2012) Bone , vol.51 , Issue.5 , pp. 939-943
    • Chew, S.1    Dastani, Z.2    Brown, S.J.3    Lewis, J.R.4    Dudbridge, F.5    Soranzo, N.6
  • 10
    • 84892978762 scopus 로고    scopus 로고
    • Exploiting APC function as a novel cancer therapy
    • COI: 1:CAS:528:DC%2BC2cXhvVWqsLc%3D, PID: 24200292
    • Lesko AC, Goss KH, Prosperi JR. Exploiting APC function as a novel cancer therapy. Curr Drug Targets. 2014;15(1):90–102.
    • (2014) Curr Drug Targets , vol.15 , Issue.1 , pp. 90-102
    • Lesko, A.C.1    Goss, K.H.2    Prosperi, J.R.3
  • 11
    • 84884581476 scopus 로고    scopus 로고
    • A meiosis-specific form of the APC/C promotes the oocyte-to-embryo transition by decreasing levels of the Polo kinase inhibitor matrimony
    • COI: 1:CAS:528:DC%2BC3sXhsFKitbnP, PID: 24019759
    • Whitfield ZJ, Chisholm J, Hawley RS, Orr-Weaver TL. A meiosis-specific form of the APC/C promotes the oocyte-to-embryo transition by decreasing levels of the Polo kinase inhibitor matrimony. PLoS Biol. 2013;11(9):e1001648.
    • (2013) PLoS Biol , vol.11 , Issue.9
    • Whitfield, Z.J.1    Chisholm, J.2    Hawley, R.S.3    Orr-Weaver, T.L.4
  • 12
    • 84873270148 scopus 로고    scopus 로고
    • Novel insertion mutation p.Asp610GlyfsX23 in APC gene causes familial adenomatous polyposis in Chinese families
    • COI: 1:CAS:528:DC%2BC3sXhtFans7w%3D
    • Song G, Yuan Y, Zheng F, Yang N. Novel insertion mutation p.Asp610GlyfsX23 in APC gene causes familial adenomatous polyposis in Chinese families. Gene. 2013;516(2):204–8.
    • (2013) Gene , vol.516 , Issue.2 , pp. 204-208
    • Song, G.1    Yuan, Y.2    Zheng, F.3    Yang, N.4
  • 13
    • 84902756821 scopus 로고    scopus 로고
    • Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria
    • COI: 1:CAS:528:DC%2BC2cXmsFais7o%3D, PID: 24950769
    • Liu Q, Wang Z, Wu Y, Cao L, Tang Q, Xing X, et al. Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. BMC Med Genet. 2014;15(1):69.
    • (2014) BMC Med Genet , vol.15 , Issue.1 , pp. 69
    • Liu, Q.1    Wang, Z.2    Wu, Y.3    Cao, L.4    Tang, Q.5    Xing, X.6
  • 14
    • 84897099729 scopus 로고    scopus 로고
    • Cyclin G2 suppresses estrogen-mediated osteogenesis through inhibition of Wnt/β-catenin signaling
    • PID: 24595300
    • Gao J, Liu Q, Liu X, Ji C, Qu S, Wang S, et al. Cyclin G2 suppresses estrogen-mediated osteogenesis through inhibition of Wnt/β-catenin signaling. PLoS One. 2014;9(3):e89884.
    • (2014) PLoS One , vol.9 , Issue.3
    • Gao, J.1    Liu, Q.2    Liu, X.3    Ji, C.4    Qu, S.5    Wang, S.6
  • 15
    • 84925534529 scopus 로고    scopus 로고
    • Immunohistochemistry with a novel mutation-specific monoclonal antibody as a screening tool for the EGFR L858R mutational status in primary lung adenocarcinoma
    • COI: 1:CAS:528:DC%2BC2cXhslSrt73M
    • Ping W, Xia CJ, Fu SL, Cai YX, Deng Y, Sun W, et al. Immunohistochemistry with a novel mutation-specific monoclonal antibody as a screening tool for the EGFR L858R mutational status in primary lung adenocarcinoma. Tumor Biol. 2015;36:693–700.
    • (2015) Tumor Biol , vol.36 , pp. 693-700
    • Ping, W.1    Xia, C.J.2    Fu, S.L.3    Cai, Y.X.4    Deng, Y.5    Sun, W.6
  • 16
    • 84876960757 scopus 로고    scopus 로고
    • Understanding phenotypic variation in rodent models with germline Apc mutations
    • COI: 1:CAS:528:DC%2BC3sXlvFOrtL8%3D, PID: 23580574
    • Zeineldin M, Neufeld KL. Understanding phenotypic variation in rodent models with germline Apc mutations. Cancer Res. 2013;73(8):2389–99.
    • (2013) Cancer Res , vol.73 , Issue.8 , pp. 2389-2399
    • Zeineldin, M.1    Neufeld, K.L.2
  • 17
    • 78249248678 scopus 로고    scopus 로고
    • The armadillo repeat domain of Apc suppresses intestinal tumorigenesis
    • COI: 1:CAS:528:DC%2BC3cXhtlykt7rO, PID: 20886217
    • Crist CRC, Roth JJ, Baran AA, McEntee BJ, Siracusa LD, Buchberg AM. The armadillo repeat domain of Apc suppresses intestinal tumorigenesis. Mamm Genome. 2010;21(9-10):450–7.
    • (2010) Mamm Genome , vol.21 , Issue.9-10 , pp. 450-457
    • Crist, C.R.C.1    Roth, J.J.2    Baran, A.A.3    McEntee, B.J.4    Siracusa, L.D.5    Buchberg, A.M.6
  • 18
    • 84952864896 scopus 로고    scopus 로고
    • Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary
    • COI: 1:CAS:528:DC%2BC2MXhs1KitLzE, PID: 26446593
    • Papp J, Kovacs ME, Matrai Z, Orosz E, Kásler M, Børresen-Dale AL, et al. Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. Fam Cancer. 2016;15(1):85–97.
    • (2016) Fam Cancer , vol.15 , Issue.1 , pp. 85-97
    • Papp, J.1    Kovacs, M.E.2    Matrai, Z.3    Orosz, E.4    Kásler, M.5    Børresen-Dale, A.L.6
  • 19
    • 84897386355 scopus 로고    scopus 로고
    • APC promoter 1B deletion in familial polyposis-implications for mutation-negative families
    • COI: 1:CAS:528:DC%2BC2cXlvVSjur8%3D, PID: 23725351
    • Kadiyska TK, Todorov TP, Bichev SN, Vazharova RV, Nossikoff AV, Savov AS, et al. APC promoter 1B deletion in familial polyposis-implications for mutation-negative families. Clin Genet. 2014;85(5):452–7.
    • (2014) Clin Genet , vol.85 , Issue.5 , pp. 452-457
    • Kadiyska, T.K.1    Todorov, T.P.2    Bichev, S.N.3    Vazharova, R.V.4    Nossikoff, A.V.5    Savov, A.S.6
  • 20
    • 84941743284 scopus 로고    scopus 로고
    • APC promoter 1B deletion in seven American families with familial adenomatous polyposis
    • COI: 1:CAS:528:DC%2BC2MXhsFGitLfE, PID: 25243319
    • Snow AK, Tuohy TM, Sargent NR, Smith LJ, Burt RW, Neklason DW, et al. APC promoter 1B deletion in seven American families with familial adenomatous polyposis. Clin Genet. 2015;88(4):360–5.
    • (2015) Clin Genet , vol.88 , Issue.4 , pp. 360-365
    • Snow, A.K.1    Tuohy, T.M.2    Sargent, N.R.3    Smith, L.J.4    Burt, R.W.5    Neklason, D.W.6
  • 21
    • 84901331440 scopus 로고    scopus 로고
    • Quantitative assessment of the diagnostic role of APC promoter methylation in non-small cell lung cancer
    • PID: 24661338
    • Guo S, Tan L, Pu W, Wu J, Xu K, Wu J, et al. Quantitative assessment of the diagnostic role of APC promoter methylation in non-small cell lung cancer. Clin Epigenetics. 2014;6(1):5.
    • (2014) Clin Epigenetics , vol.6 , Issue.1 , pp. 5
    • Guo, S.1    Tan, L.2    Pu, W.3    Wu, J.4    Xu, K.5    Wu, J.6
  • 22
    • 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
    • COI: 1:CAS:528:DyaK1MXlslKltrk%3D, PID: 10470088
    • Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, 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. 1999;5:1071–5.
    • (1999) Nat Med , vol.5 , pp. 1071-1075
    • Lamlum, H.1    Ilyas, M.2    Rowan, A.3    Clark, S.4    Johnson, V.5    Bell, J.6
  • 23
    • 1642405321 scopus 로고    scopus 로고
    • Prognostic and diagnostic significance of β-catenin nuclear immunostaining in colorectal cancer
    • COI: 1:CAS:528:DC%2BD2cXhsVGjsLo%3D, PID: 14977843
    • Wong SC, Lo ES, Lee KC, Chan JK, Hsiao WL. Prognostic and diagnostic significance of β-catenin nuclear immunostaining in colorectal cancer. Clin Cancer Res. 2004;10(4):1401–8.
    • (2004) Clin Cancer Res , vol.10 , Issue.4 , pp. 1401-1408
    • Wong, S.C.1    Lo, E.S.2    Lee, K.C.3    Chan, J.K.4    Hsiao, W.L.5
  • 24
    • 84866076504 scopus 로고    scopus 로고
    • A de novo germline APC mutation (3927del5) in a patient with familial adenomatous polyposis: case report and literature review
    • COI: 1:CAS:528:DC%2BC38Xhtl2jtrbJ, PID: 23115482
    • Zeichner SB, Raj N, Cusnir M, Francavilla M, Hirzel A. A de novo germline APC mutation (3927del5) in a patient with familial adenomatous polyposis: case report and literature review. Clin Med Insights Oncol. 2012;6:315–23.
    • (2012) Clin Med Insights Oncol , vol.6 , pp. 315-323
    • Zeichner, S.B.1    Raj, N.2    Cusnir, M.3    Francavilla, M.4    Hirzel, A.5
  • 25
    • 84991442261 scopus 로고    scopus 로고
    • Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis
    • COI: 1:CAS:528:DC%2BC2cXhslemu77K, PID: 24675673
    • Shirts BH, Salipante SJ, Casadei S, Ryan S, Martin J, Jacobson A, et al. Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis. Genet Med. 2014;16(10):783–6.
    • (2014) Genet Med , vol.16 , Issue.10 , pp. 783-786
    • Shirts, B.H.1    Salipante, S.J.2    Casadei, S.3    Ryan, S.4    Martin, J.5    Jacobson, A.6
  • 26
    • 84929902893 scopus 로고    scopus 로고
    • Detection of APC mosaicism by next-generation sequencing in an FAP patient
    • Yamagchi K, Komura M, Yamaguchi R, Imoto S, Shimizu E, Kasuya S, et al. Detection of APC mosaicism by next-generation sequencing in an FAP patient. J Hum Genet. 2015;60(5):227–31.
    • (2015) J Hum Genet , vol.60 , Issue.5 , pp. 227-231
    • Yamagchi, K.1    Komura, M.2    Yamaguchi, R.3    Imoto, S.4    Shimizu, E.5    Kasuya, S.6
  • 27
    • 84960092546 scopus 로고    scopus 로고
    • Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases
    • Spier I, Drichel D, Kerick M, Kirfel J, Horpaopan S, Laner A, et al. Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. J Med Genet. 2016;53(3):172–9.
    • (2016) J Med Genet , vol.53 , Issue.3 , pp. 172-179
    • Spier, I.1    Drichel, D.2    Kerick, M.3    Kirfel, J.4    Horpaopan, S.5    Laner, A.6
  • 28


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.