[1] Siegel R,DeSantis C,Jemal A.Colorectal cancer statistics,2014[J].CA, 2014,64(2):104-117.
[2] Fearon ER,Vogelstein B.A genetic model for colorectal tumorigenesis[J].Cell,1990,61(5):759-767.
[3] Sjǒblom T,Jones S,Wood LD,et al.The consensus coding sequences of human breast and colorectal cancers[J].Science,2006,314(5797):268-274.
[4] Cibulskis K,Lawrence MS,Carter SL,et al.Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples[J].Nat Biotechnol,2013,31(3):213-219.
[5] Gerlinger M,Rowan AJ,Horswell S,et al.Intratumor heterogeneity and branched evolution revealed by multiregion sequencing[J].N Engl J Med,2012,366(10):883-892.
[6] Consortium EP.An integrated encyclopedia of DNA elements in the human genome[J].Nature,2012,489(7414):57-74.
[7] Bass AJ,Lawrence MS,Brace LE,et al.Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion[J].Nat Genet,2011,43(10):964-968.
[8] Yu J,Wu WK,Liang Q,et al.Disruption of NCOA2 by recurrent fusion with LACTB2 in colorectal cancer[J].Oncogene,2016,35(2):187-195.
[9] Palles C,Cazier JB,Howarth KM,et al.Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas[J].Nat Genet,2013,45(2):136-144.
[10] Yamaguchi K,Komura M,Yamaguchi R,et al.Detection of APC mosaicism by next-generation sequencing in an FAP patient[J].J Hum Genet,2015,60(5):227-231.
[11] Xie T,Cho YB,Wang K,et al.Patterns of somatic alterations between matched primary and metastatic colorectal tumors characterized by whole-genome sequencing[J].Genomics,2014,104(4):234-241.
[12] Shanmugam V,Ramanathan RK,Lavender NA,et al.Whole genome sequencing reveals potential targets for therapy in patients with refractory KRAS mutated metastatic colorectal cancer[J].BMC Med Genomics,2014,7:36.
[13] Cancer Genome Atlas N.Comprehensive molecular characterization of human colon and rectal cancer[J].Nature,2012,487(7407):330-337.
[14] Esteban-Jurado C,Vila-Casadesus M,Garre P,et al.Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer[J].Genet Med,2015,17(2):131-142.
[15] Weren RD,Ligtenberg MJ,Kets CM,et al.A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer[J].Nat Genet,2015,47(6):668-671.
[16] Gylfe AE,Katainen R,Kondelin J,et al.Eleven candidate susceptibility genes for common familial colorectal cancer[J].PLoS Genet,2013,9(10):e1003876.
[17] Hansen MF,Johansen J,Bjornevoll I,et al.A novel POLE mutation associated with cancers of colon, pancreas,ovaries and small intestine[J].Fam Cancer,2015,14(3):437-448.
[18] Nikolaev SI,Sotiriou SK,Pateras IS,et al.A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas[J].Cancer Res,2012,72(23):6279-6289.
[19] Smith CG,Naven M,Harris R,et al.Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer[J].Hum Mutat,2013,34(7):1026-1034.
[20] Gala MK,Mizukami Y,Le LP,et al.Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas[J].Gastroenterology,2014,146(2):520-529.
[21] Yu J,Wu WK,Li X,et al.Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer[J].Gut,2015,64(4):636-645.
[22] Seshagiri S,Stawiski EW,Durinck S,et al.Recurrent R-spondin fusions in colon cancer[J].Nature,2012,488(7413):660-664.
[23] Wu Y,Wang X,Wu F,et al.Transcriptome profiling of the cancer,adjacent non-tumor and distant normal tissues from a colorectal cancer patient by deep sequencing[J].PLoS One,2012,7(8):e41001.
[24] Nome T,Thomassen GOS,Bruun J,et al.Common fusion transcripts identified in colorectal cancer cell lines by high-throughput RNA Sequencing[J].Translat Oncol,2013,6(5):546-553.
[25] Liu F,Ji F,Ji Y,et al.Dissecting the mechanism of colorectal tumorigenesis based on RNA-sequencing data[J].Exp Mol Pathol,2015,98(2):246-253.
[26] Slattery ML,Pellatt DF,Mullany LE,et al.Differential gene expression in colon tissue associated with diet,lifestyle,and related oxidative Stress[J].PLoS One,2015,10(7):e0134406.
[27] De Roock W,De Vriendt V,Normanno N,et al.KRAS,BRAF,PIK3CA,and PTEN mutations:implications for targeted therapies in metastatic colorectal cancer[J].Lancet Oncol,2011,12(6):594-603.
[28] Lipson D,Capelletti M,Yelensky R,et al.Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies[J].Nature Med,2012,18(3):382-384.
[29] Kraus C,Rau TT,Lux P,et al.Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations[J].Int J Cancer,2015,136(6):E559-568.
[30] Bai J,Gao J,Mao Z,et al.Genetic mutations in human rectal cancers detected by targeted sequencing[J].J Hum Genet,2015,60(10):589-596.
[31] Zhang L,Chen L,Sah S,et al.Profiling cancer gene mutations in clinical formalin-fixed,paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing[J].Oncologist,2014,19(4):336-343.
[32] Ciardiello F,Normanno N,Maiello E,et al.Clinical activity of FOLFIRI plus cetuximab according to extended gene mutation status by next-generation sequencing:findings from the CAPRI-GOIM trial[J].Ann Oncol,2014,25(9):1756-1761.
[33] Mao C,Wu XY,Yang ZY,et al.Concordant analysis of KRAS,BRAF,PIK3CA mutations,and PTEN expression between primary colorectal cancer and matched metastases[J].Sci Rep,2015,5:8065.
[34] Vignot S,Lefebvre C,Frampton GM,et al.Comparative analysis of primary tumour and matched metastases in colorectal cancer patients:evaluation of concordance between genomic and transcriptional profiles[J].Eur J Cancer,2015,51(7):791-799.
[35] Brannon AR,Vakiani E,Sylvester BE,et al.Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions[J].Genome Biol,2014,15(8):454.
[36] Kogita A,Yoshioka Y,Sakai K,et al.Inter- and intra-tumor profiling of multi-regional colon cancer and metastasis[J].Biochem Biophys Res Commun,2015,458(1):52-56.
[37] Lu YW,Zhang HF,Liang R,et al.Colorectal cancer genetic heterogeneity delineated by multi-region sequencing[J].PLoS One,2016,11(3):e0152673.
[38] Ashktorab H,Daremipouran M,Goel A,et al.DNA methylome profiling identifies novel methylated genes in African American patients with colorectal neoplasia[J].Epigenetics,2014,9(4):503-512.
[39] Hansen KD,Timp W,Bravo HC,et al.Increased methylation variation in epigenetic domains across cancer types[J].Nat Genet,2011,43(8):768-775.