메뉴 건너뛰기




Volumn 136, Issue 6, 2015, Pages E578-E589

Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

(28)  Horpaopan, Sukanya a   Spier, Isabel a   Zink, Alexer M a   Altmüller, Janine b   Holzapfel, Stefanie a   Laner, Andreas c   Vogt, Stefanie a,d   Uhlhaas, Siegfried a   Heilmann, Stefanie a   Stienen, Dietlinde a   Pasternack, Sra M a   Keppler, Kathleen a   Adam, Ronja a   Kayser, Katrin a   Moebus, Susanne e   Draaken, Markus a   Degenhardt, Franziska a   Engels, Hartmut a   Hofmann, Andrea a   Nöthen, Markus M a   more..


Author keywords

Candidate genes; Copy number variation; Gastrointestinal polyposis; Genetic cause; Hereditary colorectal cancer; Next generation sequencing; Unexplained polyposis

Indexed keywords

BETA CATENIN; GENOMIC DNA; WNT PROTEIN; CTNNB1 PROTEIN, HUMAN; DNA GLYCOSYLASE MUTY; DNA GLYCOSYLTRANSFERASE; HEAT SHOCK PROTEIN 110; HSPH1 PROTEIN, HUMAN; KIF26B PROTEIN, HUMAN; KINESIN; PROTEIN SERINE THREONINE KINASE; SIGNAL PEPTIDE; TESK2 PROTEIN, HUMAN;

EID: 84922269040     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.29215     Document Type: Article
Times cited : (51)

References (50)
  • 1
    • 84856244406 scopus 로고    scopus 로고
    • Implications of gene copy-number variation in health and diseases
    • Almal SH, Padh H. Implications of gene copy-number variation in health and diseases. J Hum Genet 2012;57:6-13.
    • (2012) J Hum Genet , vol.57 , pp. 6-13
    • Almal, S.H.1    Padh, H.2
  • 2
    • 73849132248 scopus 로고    scopus 로고
    • Copy number variations and cancer susceptibility
    • Shlien A, Malkin D. Copy number variations and cancer susceptibility. Curr Opin Oncol 2010;22:55-63.
    • (2010) Curr Opin Oncol , vol.22 , pp. 55-63
    • Shlien, A.1    Malkin, D.2
  • 3
    • 67649289900 scopus 로고    scopus 로고
    • Copy number variation at 1q21.1 associated with neuroblastoma
    • Diskin SJ, Hou C, Glessner JT, et al. Copy number variation at 1q21.1 associated with neuroblastoma. Nature 2009;459:987-91.
    • (2009) Nature , vol.459 , pp. 987-991
    • Diskin, S.J.1    Hou, C.2    Glessner, J.T.3
  • 4
    • 84856577365 scopus 로고    scopus 로고
    • Germline DNA copy number variation in familial and early-onset breast cancer
    • Krepischi AC, Achatz MI, Santos EM, et al. Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Res 2012;14:R24.
    • (2012) Breast Cancer Res , vol.14 , pp. R24
    • Krepischi, A.C.1    Achatz, M.I.2    Santos, E.M.3
  • 5
    • 65549150968 scopus 로고    scopus 로고
    • Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer
    • Liu W, Sun J, Li G, et al. Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer. Cancer Res 2009;69:2176-9.
    • (2009) Cancer Res , vol.69 , pp. 2176-2179
    • Liu, W.1    Sun, J.2    Li, G.3
  • 6
    • 84864040193 scopus 로고    scopus 로고
    • Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network
    • Pylkäs K, Vuorela M, Otsukka M, et al. Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network. PLoS Genet 2012;8:e1002734.
    • (2012) PLoS Genet , vol.8 , pp. e1002734
    • Pylkäs, K.1    Vuorela, M.2    Otsukka, M.3
  • 7
    • 84864944125 scopus 로고    scopus 로고
    • Rare de novo germline copy-number variation in testicular cancer
    • Stadler ZK, Esposito D, Shah S, et al. Rare de novo germline copy-number variation in testicular cancer. Am J Hum Genet 2012;91:379-83.
    • (2012) Am J Hum Genet , vol.91 , pp. 379-383
    • Stadler, Z.K.1    Esposito, D.2    Shah, S.3
  • 9
    • 84860124664 scopus 로고    scopus 로고
    • Germ-line copy number variations and cancer predisposition
    • Krepischi AC, Pearson PL, Rosenberg C. Germ-line copy number variations and cancer predisposition. Future Oncol 2012;8:441-50.
    • (2012) Future Oncol , vol.8 , pp. 441-450
    • Krepischi, A.C.1    Pearson, P.L.2    Rosenberg, C.3
  • 12
    • 84864506477 scopus 로고    scopus 로고
    • Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas
    • Grover S, Kastrinos F, Steyerberg EW, et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 2012;308:485-92.
    • (2012) JAMA , vol.308 , pp. 485-492
    • Grover, S.1    Kastrinos, F.2    Steyerberg, E.W.3
  • 13
    • 84890857720 scopus 로고    scopus 로고
    • Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
    • Hes FJ, Ruano D, Nieuwenhuis M, et al. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis. J Med Genet 2014;51:55-60.
    • (2014) J Med Genet , vol.51 , pp. 55-60
    • Hes, F.J.1    Ruano, D.2    Nieuwenhuis, M.3
  • 14
    • 24944500115 scopus 로고    scopus 로고
    • Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous
    • Renkonen ET, Nieminen P, Abdel-Rahman WM, et al. Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous. J Clin Oncol 2005;23:5651-9.
    • (2005) J Clin Oncol , vol.23 , pp. 5651-5659
    • Renkonen, E.T.1    Nieminen, P.2    Abdel-Rahman, W.M.3
  • 15
    • 34249821069 scopus 로고    scopus 로고
    • Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations
    • Thirlwell C, Howarth KM, Segditsas S, et al. Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations. Br J Cancer 2007;96:1729-34.
    • (2007) Br J Cancer , vol.96 , pp. 1729-1734
    • Thirlwell, C.1    Howarth, K.M.2    Segditsas, S.3
  • 16
    • 0037961628 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP). A review of the literature
    • Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003;2:43-55.
    • (2003) Fam Cancer , vol.2 , pp. 43-55
    • Knudsen, A.L.1    Bisgaard, M.L.2    Bulow, S.3
  • 17
    • 83355166919 scopus 로고    scopus 로고
    • Unexplained polyposis: A challenge for geneticists, pathologists and gastroenterologists
    • Mongin C, Coulet F, Lefevre JH, et al. Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists. Clin Genet 2012;81:38-46.
    • (2012) Clin Genet , vol.81 , pp. 38-46
    • Mongin, C.1    Coulet, F.2    Lefevre, J.H.3
  • 18
    • 8644235804 scopus 로고    scopus 로고
    • Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas
    • Fearnhead NS, Wilding JL, Winney B, et al. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci USA 2004;101:15992-7.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 15992-15997
    • Fearnhead, N.S.1    Wilding, J.L.2    Winney, B.3
  • 19
    • 39049097331 scopus 로고    scopus 로고
    • Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas
    • Azzopardi D, Dallosso AR, Eliason K, et al. Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas. Cancer Res 2008;68:358-63.
    • (2008) Cancer Res , vol.68 , pp. 358-363
    • Azzopardi, D.1    Dallosso, A.R.2    Eliason, K.3
  • 20
    • 84870256471 scopus 로고    scopus 로고
    • Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer
    • Lefevre JH, Bonilla C, Colas C, et al. Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer. J Hum Genet 2012;57:709-16.
    • (2012) J Hum Genet , vol.57 , pp. 709-716
    • Lefevre, J.H.1    Bonilla, C.2    Colas, C.3
  • 21
    • 50249128854 scopus 로고    scopus 로고
    • Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3
    • Dallosso AR, Dolwani S, Jones N, et al. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 2008;57:1252-5.
    • (2008) Gut , vol.57 , pp. 1252-1255
    • Dallosso, A.R.1    Dolwani, S.2    Jones, N.3
  • 22
    • 33847084436 scopus 로고    scopus 로고
    • Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer
    • Will O, Carvajal-Carmona LG, Gorman P, et al. Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Gastroenterology 2007;132:527-30.
    • (2007) Gastroenterology , vol.132 , pp. 527-530
    • Will, O.1    Carvajal-Carmona, L.G.2    Gorman, P.3
  • 23
    • 84873096362 scopus 로고    scopus 로고
    • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    • Palles C, Cazier JB, Howarth KM, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013;45:136-44.
    • (2013) Nat Genet , vol.45 , pp. 136-144
    • Palles, C.1    Cazier, J.B.2    Howarth, K.M.3
  • 24
    • 78650884008 scopus 로고    scopus 로고
    • Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia
    • Rio Frio T, Lavoie J, Hamel N, et al. Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. N Engl J Med 2010;363:2628-37.
    • (2010) N Engl J Med , vol.363 , pp. 2628-2637
    • Rio Frio, T.1    Lavoie, J.2    Hamel, N.3
  • 25
    • 84883163903 scopus 로고    scopus 로고
    • Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer
    • de Voer RM, Geurts van Kessel A, Weren RD, et al. Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer. Gastroenterology 2013;145:544-7.
    • (2013) Gastroenterology , vol.145 , pp. 544-547
    • De Voer, R.M.1    Geurts Van Kessel, A.2    Weren, R.D.3
  • 26
    • 84884592445 scopus 로고    scopus 로고
    • Genic intolerance to functional variation and the interpretation of personal genomes
    • Petrovski S, Wang Q, Heinzen EL, et al. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 2013;9:e1003709.
    • (2013) PLoS Genet , vol.9 , pp. e1003709
    • Petrovski, S.1    Wang, Q.2    Heinzen, E.L.3
  • 27
    • 78449263023 scopus 로고    scopus 로고
    • Characterising and predicting haploinsufficiency in the human genome
    • Huang N, Lee I, Marcotte EM, et al. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet 2010;6:e1001154.
    • (2010) PLoS Genet , vol.6 , pp. e1001154
    • Huang, N.1    Lee, I.2    Marcotte, E.M.3
  • 28
    • 34948841431 scopus 로고    scopus 로고
    • Somatic APC mosaicism: A frequent cause of familial adenomatous polyposis (FAP)
    • Aretz S, Stienen D, Friedrichs N, et al. Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Hum Mutat 2007;28:985-92.
    • (2007) Hum Mutat , vol.28 , pp. 985-992
    • Aretz, S.1    Stienen, D.2    Friedrichs, N.3
  • 29
    • 75149117020 scopus 로고    scopus 로고
    • Genome-wide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients
    • Thean LF, Loi C, Ho KS, et al. Genome-wide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients. Genes Chromosomes Cancer 2010;49:99-106.
    • (2010) Genes Chromosomes Cancer , vol.49 , pp. 99-106
    • Thean, L.F.1    Loi, C.2    Ho, K.S.3
  • 31
    • 84867315887 scopus 로고    scopus 로고
    • Systematic meta-analyses and field synopsis of genetic association studies in colorectal cancer
    • Theodoratou E, Montazeri Z, Hawken S, et al. Systematic meta-analyses and field synopsis of genetic association studies in colorectal cancer. J Natl Cancer Inst 2012;104:1433-57.
    • (2012) J Natl Cancer Inst , vol.104 , pp. 1433-1457
    • Theodoratou, E.1    Montazeri, Z.2    Hawken, S.3
  • 32
    • 84879409534 scopus 로고    scopus 로고
    • Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer
    • Smith CG, Naven M, Harris R, et al. Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. Hum Mutat 2013;34:1026-34.
    • (2013) Hum Mutat , vol.34 , pp. 1026-1034
    • Smith, C.G.1    Naven, M.2    Harris, R.3
  • 33
    • 84887271790 scopus 로고    scopus 로고
    • Eleven candidate susceptibility genes for common familial colorectal cancer
    • Gylfe AE, Katainen R, Kondelin J, et al. Eleven candidate susceptibility genes for common familial colorectal cancer. PLoS Genet 2013;9:e1003876.
    • (2013) PLoS Genet , vol.9 , pp. e1003876
    • Gylfe, A.E.1    Katainen, R.2    Kondelin, J.3
  • 34
    • 79960913302 scopus 로고    scopus 로고
    • Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients
    • Venkatachalam R, Verwiel ET, Kamping EJ, et al. Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients. Int J Cancer 2011;129:1635-42.
    • (2011) Int J Cancer , vol.129 , pp. 1635-1642
    • Venkatachalam, R.1    Verwiel, E.T.2    Kamping, E.J.3
  • 35
    • 41649088291 scopus 로고    scopus 로고
    • Copy-number variants in patients with a strong family history of pancreatic cancer
    • Lucito R, Suresh S, Walter K, et al. Copy-number variants in patients with a strong family history of pancreatic cancer. Cancer Biol Ther 2007;6:1592-9.
    • (2007) Cancer Biol Ther , vol.6 , pp. 1592-1599
    • Lucito, R.1    Suresh, S.2    Walter, K.3
  • 36
    • 84862777919 scopus 로고    scopus 로고
    • Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family
    • Yang XR, Brown K, Landi MT, et al. Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family. Pigment Cell Melanoma Res 2012;25:243-7.
    • (2012) Pigment Cell Melanoma Res , vol.25 , pp. 243-247
    • Yang, X.R.1    Brown, K.2    Landi, M.T.3
  • 37
    • 77951720395 scopus 로고    scopus 로고
    • Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
    • Meindl A, Hellebrand H, Wiek C, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 2010;42:410-4.
    • (2010) Nat Genet , vol.42 , pp. 410-414
    • Meindl, A.1    Hellebrand, H.2    Wiek, C.3
  • 38
    • 79451471735 scopus 로고    scopus 로고
    • Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH
    • Brault LS, Cooper CA, Famula TR, et al. Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH. Genomics 2011;97:121-9.
    • (2011) Genomics , vol.97 , pp. 121-129
    • Brault, L.S.1    Cooper, C.A.2    Famula, T.R.3
  • 39
    • 33846978695 scopus 로고    scopus 로고
    • Relative impact of nucleotide and copy number variation on gene expression phenotypes
    • Stranger BE, Forrest MS, Dunning M, et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 2007;315:848-53.
    • (2007) Science , vol.315 , pp. 848-853
    • Stranger, B.E.1    Forrest, M.S.2    Dunning, M.3
  • 40
    • 84860112167 scopus 로고    scopus 로고
    • KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas
    • Brockschmidt A, Trost D, Peterziel H, et al. KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas. Brain 2012;135:1027-41.
    • (2012) Brain , vol.135 , pp. 1027-1041
    • Brockschmidt, A.1    Trost, D.2    Peterziel, H.3
  • 41
    • 74949111794 scopus 로고    scopus 로고
    • Chapter 1. Focal adhesions: New angles on an old structure
    • Dubash AD, Menold MM, Samson T, et al. Chapter 1. Focal adhesions: new angles on an old structure. Int Rev Cell Mol Biol 2009;277:1-65.
    • (2009) Int Rev Cell Mol Biol , vol.277 , pp. 1-65
    • Dubash, A.D.1    Menold, M.M.2    Samson, T.3
  • 42
    • 84876016429 scopus 로고    scopus 로고
    • High expression of KIF26B in breast cancer associates with poor prognosis
    • Wang Q, Zhao ZB, Wang G, et al. High expression of KIF26B in breast cancer associateswith poor prognosis. PLoS One 2013;8:e61640.
    • (2013) PLoS One , vol.8 , pp. e61640
    • Wang, Q.1    Zhao, Z.B.2    Wang, G.3
  • 43
    • 84872038565 scopus 로고    scopus 로고
    • Recurrent targeted genes of hepatitis B virus in the liver cancer genomes identified by a next-generation sequencing-based approach
    • Ding D, Lou X, Hua D, et al. Recurrent targeted genes of hepatitis B virus in the liver cancer genomes identified by a next-generation sequencing-based approach. PLoS Genet 2012;8:e1003065.
    • (2012) PLoS Genet , vol.8 , pp. e1003065
    • Ding, D.1    Lou, X.2    Hua, D.3
  • 44
    • 19944426207 scopus 로고    scopus 로고
    • Hereditary prostate cancer in Finland: Fine-mapping validates 3p26 as a major predisposition locus
    • Rokman A, Baffoe-Bonnie AB, Gillanders E, et al. Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus. Hum Genet 2005;116:43-50.
    • (2005) Hum Genet , vol.116 , pp. 43-50
    • Rokman, A.1    Baffoe-Bonnie, A.B.2    Gillanders, E.3
  • 45
    • 67651049047 scopus 로고    scopus 로고
    • Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer
    • Manderson EN, Birch AH, Shen Z, et al. Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer. Int J Gynecol Cancer 2009;19:513-25.
    • (2009) Int J Gynecol Cancer , vol.19 , pp. 513-525
    • Manderson, E.N.1    Birch, A.H.2    Shen, Z.3
  • 46
    • 0037044723 scopus 로고    scopus 로고
    • The MCM3 acetylase MCM3AP inhibits initiation,but not elongation, of DNA replication via interaction with MCM3
    • Takei Y, Assenberg M, Tsujimoto G, et al. The MCM3 acetylase MCM3AP inhibits initiation,but not elongation, of DNA replication via interaction with MCM3. J Biol Chem 2002;277:43121-5.
    • (2002) J Biol Chem , vol.277 , pp. 43121-43125
    • Takei, Y.1    Assenberg, M.2    Tsujimoto, G.3
  • 47
    • 84860491317 scopus 로고    scopus 로고
    • Proteotoxic stress of cancer: Implication of the heat-shock response in oncogenesis
    • Dai C, Dai S, Cao J. Proteotoxic stress of cancer: implication of the heat-shock response in oncogenesis. J Cell Physiol 2012;227:2982-7.
    • (2012) J Cell Physiol , vol.227 , pp. 2982-2987
    • Dai, C.1    Dai, S.2    Cao, J.3
  • 48
    • 33751256003 scopus 로고    scopus 로고
    • p120-catenin and p190RhoGAP regulate cell-cell adhesion by coordinating antagonism between Rac and Rho
    • Wildenberg GA, Dohn MR, Carnahan RH, et al. p120-catenin and p190RhoGAP regulate cell-cell adhesion by coordinating antagonism between Rac and Rho. Cell 2006;127:1027-39.
    • (2006) Cell , vol.127 , pp. 1027-1039
    • Wildenberg, G.A.1    Dohn, M.R.2    Carnahan, R.H.3
  • 49
    • 84894803694 scopus 로고    scopus 로고
    • Downregulation of miR-486-5p contributes to tumor progression and metastasis by targeting protumorigenic ARHGAP5 in lung cancer
    • Wang J, Tian X, Han R, et al. Downregulation of miR-486-5p contributes to tumor progression and metastasis by targeting protumorigenic ARHGAP5 in lung cancer. Oncogene 2013.
    • (2013) Oncogene
    • Wang, J.1    Tian, X.2    Han, R.3
  • 50
    • 78649264297 scopus 로고    scopus 로고
    • De novo rates and selection of large copy number variation
    • Itsara A, Wu H, Smith JD, et al. De novo rates and selection of large copy number variation. Genome Res 2010;20:1469-81.
    • (2010) Genome Res , vol.20 , pp. 1469-1481
    • Itsara, A.1    Wu, H.2    Smith, J.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.