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Volumn 238, Issue 1, 2016, Pages 98-108

Adenoma development in familial adenomatous polyposis and MUTYH -associated polyposis: Somatic landscape and driver genes

Author keywords

adenoma development; APC; colorectal neoplasms; driver genes; exome sequencing; MUTYH; somatic landscape; WTX

Indexed keywords

APC PROTEIN; ATTRACTIN LIKE 1 PROTEIN; BETA CATENIN; DNA GLYCOSYLASE MUTY; K RAS PROTEIN; MIXED LINEAGE LEUKEMIA PROTEIN; PEPTIDES AND PROTEINS; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PHOSPHOLIPASE C GAMMA1; PHOSPHOLIPASE C GAMMA2; PROTEIN P53; UNCLASSIFIED DRUG; WT1 PROTEIN; WTX PROTEIN; DNA GLYCOSYLTRANSFERASE; TRANSCRIPTOME;

EID: 84954447035     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.4643     Document Type: Article
Times cited : (42)

References (37)
  • 2
    • 0025817880 scopus 로고
    • Identification of FAP locus genes from chromosome 5q21
    • Kinzler KW, Nilbert MC, Su LK, et al., Identification of FAP locus genes from chromosome 5q21. Science 1991; 253: 661-665.
    • (1991) Science , vol.253 , pp. 661-665
    • Kinzler, K.W.1    Nilbert, M.C.2    Su, L.K.3
  • 4
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    • Sampson JR, Dolwani S, Jones S, et al., Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003; 362: 39-41.
    • (2003) Lancet , vol.362 , pp. 39-41
    • Sampson, J.R.1    Dolwani, S.2    Jones, S.3
  • 5
    • 84870548246 scopus 로고    scopus 로고
    • Familial colon cancer syndromes: An update of a rapidly evolving field
    • Patel SG, Ahnen DJ,. Familial colon cancer syndromes: an update of a rapidly evolving field. Curr Gastroenterol Rep 2012; 14: 428-438.
    • (2012) Curr Gastroenterol Rep , vol.14 , pp. 428-438
    • Patel, S.G.1    Ahnen, D.J.2
  • 6
    • 84873096362 scopus 로고    scopus 로고
    • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    • Palles C, Cazier J-B, Howarth KM, et al., Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013; 45: 136-144.
    • (2013) Nat Genet , vol.45 , pp. 136-144
    • Palles, C.1    Cazier, J.-B.2    Howarth, K.M.3
  • 7
    • 84896739540 scopus 로고    scopus 로고
    • Replicative DNA polymerase mutations in cancer
    • Heitzer E, Tomlinson I,. Replicative DNA polymerase mutations in cancer. Curr Opin Genet Dev 2014; 24: 107-113.
    • (2014) Curr Opin Genet Dev , vol.24 , pp. 107-113
    • Heitzer, E.1    Tomlinson, I.2
  • 8
    • 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. J Am Med Assoc 2012; 308: 485-492.
    • (2012) J Am Med Assoc , vol.308 , pp. 485-492
    • Grover, S.1    Kastrinos, F.2    Steyerberg, E.W.3
  • 9
    • 84863922124 scopus 로고    scopus 로고
    • Comprehensive molecular characterization of human colon and rectal cancer
    • Cancer Genome Atlas Network,. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012; 487: 330-337.
    • (2012) Nature , vol.487 , pp. 330-337
    • Network, C.G.A.1
  • 10
    • 0028051822 scopus 로고
    • Inactivation of both APC alleles in human and mouse tumors
    • Levy DB, Smith KJ, Beazer-Barclay Y, et al., Inactivation of both APC alleles in human and mouse tumors. Cancer Res 1994; 54: 5953-5958.
    • (1994) Cancer Res , vol.54 , pp. 5953-5958
    • Levy, D.B.1    Smith, K.J.2    Beazer-Barclay, Y.3
  • 11
    • 0037205007 scopus 로고    scopus 로고
    • The promise and perils of Wnt signaling through β-catenin
    • Moon RT, Bowerman B, Boutros M, et al., The promise and perils of Wnt signaling through β-catenin. Science 2002; 296: 1644-1646.
    • (2002) Science , vol.296 , pp. 1644-1646
    • Moon, R.T.1    Bowerman, B.2    Boutros, M.3
  • 13
    • 0037081332 scopus 로고    scopus 로고
    • Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours
    • Cheadle JP, Krawczak M, Thomas MW, et al., Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Res 2002; 62: 363-366.
    • (2002) Cancer Res , vol.62 , pp. 363-366
    • Cheadle, J.P.1    Krawczak, M.2    Thomas, M.W.3
  • 14
    • 9244224723 scopus 로고    scopus 로고
    • Intrinsic tumour suppression
    • Lowe SW, Cepero E, Evan G,. Intrinsic tumour suppression. Nature 2004; 432: 307-315.
    • (2004) Nature , vol.432 , pp. 307-315
    • Lowe, S.W.1    Cepero, E.2    Evan, G.3
  • 15
    • 33845373278 scopus 로고    scopus 로고
    • Colorectal cancer and genetic alterations in the Wnt pathway
    • Segditsas S, Tomlinson I,. Colorectal cancer and genetic alterations in the Wnt pathway. Oncogene 2006; 25: 7531-7537.
    • (2006) Oncogene , vol.25 , pp. 7531-7537
    • Segditsas, S.1    Tomlinson, I.2
  • 16
    • 0030004207 scopus 로고    scopus 로고
    • Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage
    • Slupska MM, Baikalov C, Miller JH, et al., Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J Bacteriol 1996; 178: 3885-3892.
    • (1996) J Bacteriol , vol.178 , pp. 3885-3892
    • Slupska, M.M.1    Baikalov, C.2    Miller, J.H.3
  • 17
    • 0036478899 scopus 로고    scopus 로고
    • Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors
    • Al-Tassan N, Chmiel NH, Fleming N, et al., Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nat Genet 2002; 30: 227-232.
    • (2002) Nat Genet , vol.30 , pp. 227-232
    • Al-Tassan, N.1    Chmiel, N.H.2    Fleming, N.3
  • 18
    • 78650966622 scopus 로고    scopus 로고
    • Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis
    • Timmermann B, Kerick M, Boerno ST, et al., Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PloS One 2010; 5: e15661.
    • (2010) PloS One , vol.5 , pp. e15661
    • Timmermann, B.1    Kerick, M.2    Boerno, S.T.3
  • 19
    • 84870377034 scopus 로고    scopus 로고
    • A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas
    • Nikolaev SI, Sotiriou SK, Edgren H, et al., A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas. Cancer Res 2012; 72: 6279-6289.
    • (2012) Cancer Res , vol.72 , pp. 6279-6289
    • Nikolaev, S.I.1    Sotiriou, S.K.2    Edgren, H.3
  • 20
    • 79959201528 scopus 로고    scopus 로고
    • The GENCODE exome: Sequencing the complete human exome
    • Coffey AJ, Kokocinski F, Drury E, et al., The GENCODE exome: sequencing the complete human exome. Eur J Hum Genet 2011; 19: 827-831.
    • (2011) Eur J Hum Genet , vol.19 , pp. 827-831
    • Coffey, A.J.1    Kokocinski, F.2    Drury, E.3
  • 21
    • 84882618092 scopus 로고    scopus 로고
    • Cake: A bioinformatics pipeline for the integrated analysis of somatic variants in cancer genomes
    • Rashid M, Rust AG, Adams DJ, et al., Cake: a bioinformatics pipeline for the integrated analysis of somatic variants in cancer genomes. Bioinforma Oxf Engl 2013; 29: 2208-2210.
    • (2013) Bioinforma Oxf Engl , vol.29 , pp. 2208-2210
    • Rashid, M.1    Rust, A.G.2    Adams, D.J.3
  • 22
    • 33847293670 scopus 로고    scopus 로고
    • High-throughput oncogene mutation profiling in human cancer
    • Thomas RK, Baker AC, Lin WM, et al., High-throughput oncogene mutation profiling in human cancer. Nat Genet 2007; 39: 347-351.
    • (2007) Nat Genet , vol.39 , pp. 347-351
    • Thomas, R.K.1    Baker, A.C.2    Lin, W.M.3
  • 23
    • 2442536038 scopus 로고    scopus 로고
    • Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas
    • Jones S, Sampson JR, Cheadle JP, et al., Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas. Br J Cancer 2004; 90: 1591-1593.
    • (2004) Br J Cancer , vol.90 , pp. 1591-1593
    • Jones, S.1    Sampson, J.R.2    Cheadle, J.P.3
  • 24
    • 84876786068 scopus 로고    scopus 로고
    • EMu: Probabilistic inference of mutational processes and their localization in the cancer genome
    • Fischer A, Campbell PJ, Mustonen V, et al., EMu: probabilistic inference of mutational processes and their localization in the cancer genome. Genome Biol 2013; 14: R39.
    • (2013) Genome Biol , vol.14 , pp. R39
    • Fischer, A.1    Campbell, P.J.2    Mustonen, V.3
  • 25
    • 84902963204 scopus 로고    scopus 로고
    • Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene
    • Grasso F, Giacomini E, Mazzei F, et al., Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene. Hum Mol Genet 2014; 23: 3843-3852.
    • (2014) Hum Mol Genet , vol.23 , pp. 3843-3852
    • Grasso, F.1    Giacomini, E.2    Mazzei, F.3
  • 26
    • 33645074134 scopus 로고    scopus 로고
    • Chromosomal instability in MYH- and APC-mutant adenomatous polyps
    • Cardoso J, Molenaar L, Möslein G, et al., Chromosomal instability in MYH- and APC-mutant adenomatous polyps. Cancer Res 2006; 66: 2514-2519.
    • (2006) Cancer Res , vol.66 , pp. 2514-2519
    • Cardoso, J.1    Molenaar, L.2    Möslein, G.3
  • 27
    • 84898056728 scopus 로고    scopus 로고
    • Recurrent PTPRB and PLCG1 mutations in angiosarcoma
    • Behjati S, Tarpey PS, Gundem G, et al., Recurrent PTPRB and PLCG1 mutations in angiosarcoma. Nat Genet 2014; 46: 376-379.
    • (2014) Nat Genet , vol.46 , pp. 376-379
    • Behjati, S.1    Tarpey, P.S.2    Gundem, G.3
  • 28
    • 33846846526 scopus 로고    scopus 로고
    • An X chromosome gene, WTX, is commonly inactivated in Wilms' tumor
    • Rivera MN, Kim WJ, Han M, et al., An X chromosome gene, WTX, is commonly inactivated in Wilms' tumor. Science 2007; 315: 642-645.
    • (2007) Science , vol.315 , pp. 642-645
    • Rivera, M.N.1    Kim, W.J.2    Han, M.3
  • 29
    • 84858047563 scopus 로고    scopus 로고
    • The WTX tumor suppressor enhances p53 acetylation by CBP/p300
    • Kim WJ, Coffman EJ, Haber DA, et al., The WTX tumor suppressor enhances p53 acetylation by CBP/p300. Mol Cell 2012; 45: 587-597.
    • (2012) Mol Cell , vol.45 , pp. 587-597
    • Kim, W.J.1    Coffman, E.J.2    Haber, D.A.3
  • 30
    • 66249117651 scopus 로고    scopus 로고
    • The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity
    • Rivera MN, Burger A, Coffman EJ, et al., The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity. Proc Natl Acad Sci USA 2009; 106: 8338-8343.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 8338-8343
    • Rivera, M.N.1    Burger, A.2    Coffman, E.J.3
  • 31
    • 79955908615 scopus 로고    scopus 로고
    • The WTX tumor suppressor regulates mesenchymal progenitor cell fate specification
    • Moisan A, Coffman EJ, Cook EB, et al., The WTX tumor suppressor regulates mesenchymal progenitor cell fate specification. Dev Cell 2011; 2: 583-596.
    • (2011) Dev Cell , vol.2 , pp. 583-596
    • Moisan, A.1    Coffman, E.J.2    Cook, E.B.3
  • 32
    • 58149157778 scopus 로고    scopus 로고
    • Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
    • Jenkins ZA, Fukuzawa R, Pearl E, et al., Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet 2009; 41: 95-100.
    • (2009) Nat Genet , vol.41 , pp. 95-100
    • Jenkins, Z.A.1    Fukuzawa, R.2    Pearl, E.3
  • 33
    • 34249061491 scopus 로고    scopus 로고
    • Wilms tumor suppressor WTX negatively regulates WNT/β-catenin signaling
    • Major MB, Camp ND, Hubbert C, et al., Wilms tumor suppressor WTX negatively regulates WNT/β-catenin signaling. Science 2007; 316: 1043-1046.
    • (2007) Science , vol.316 , pp. 1043-1046
    • Major, M.B.1    Camp, N.D.2    Hubbert, C.3
  • 34
    • 84859239880 scopus 로고    scopus 로고
    • A common role for various human truncated adenomatous polyposis coli isoforms in the control of β-catenin activity and cell proliferation
    • Chandra SHV, Behrens J, Schneikert J, et al., A common role for various human truncated adenomatous polyposis coli isoforms in the control of β-catenin activity and cell proliferation. PloS One 2012; 7: e34479.
    • (2012) PloS One , vol.7 , pp. e34479
    • Chandra, S.H.V.1    Behrens, J.2    Schneikert, J.3
  • 35
    • 84859606763 scopus 로고    scopus 로고
    • Evidence for accelerated colorectal adenoma - Carcinoma progression in MUTYH-associated polyposis
    • Nieuwenhuis MH, Vogt S, Sampson JR, et al., Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis. Gut 2012; 61: 734-738.
    • (2012) Gut , vol.61 , pp. 734-738
    • Nieuwenhuis, M.H.1    Vogt, S.2    Sampson, J.R.3
  • 36
    • 58149337352 scopus 로고    scopus 로고
    • APC and the three-hit hypothesis
    • Segditsas S, Leedham S, Wright NA, et al., APC and the three-hit hypothesis. Oncogene 2009; 28: 146-155.
    • (2009) Oncogene , vol.28 , pp. 146-155
    • Segditsas, S.1    Leedham, S.2    Wright, N.A.3
  • 37
    • 84882837534 scopus 로고    scopus 로고
    • Signatures of mutational processes in human cancer
    • Alexandrov LB, Nik-Zainal S, Wedge DC, et al., Signatures of mutational processes in human cancer. Nature 2013; 500: 415-421.
    • (2013) Nature , vol.500 , pp. 415-421
    • Alexandrov, L.B.1    Nik-Zainal, S.2    Wedge, D.C.3


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