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Review

Detection of Colorectal Cancer by DNA Methylation Biomarker SEPT9: Past, Present and Future

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Pages 755-769 | Published online: 15 Aug 2014

References

  • The American Cancer Society . Cancer Facts & Figures 2013.American Cancer Society, GA, USA (2013).
  • Ferlay J , Steliarova-FoucherE, Lortet-TieulentJet al. Cancer incidence and mortality patterns in Europe: estimates for 40 countries in 2012. Eur. J. Cancer 49 (6), 1374 – 1403 (2013).
  • The National Cancer Center and Disease Prevention and Control Bureau . The 2012 Annual Cancer Report of China.National Cancer Center and Disease Prevention and Control Bureau, Beijing, China (2012).
  • The American Cancer Society . Colorectal Cancer Facts & Figures 2011–2013.American Cancer Society, GA, USA (2011).
  • National Cancer Institute, PDQ, Treatment, Health Professionals . Survival Rate for Colorectal Cancer by Stage.National Cancer Institute, Bethesda, MD, USA (1999).
  • van Rossum LG , van RijnAF, van OijenMGet al. False negative fecal occult blood tests due to delayed sample return in colorectal cancer screening. Int. J. Cancer 125 (4), 746 – 750 (2009).
  • Dominitz JA , EisenGM, BaronTHet al. Complications of colonoscopy. Gastrointest. Endosc. 57 (4), 441 – 445 (2003).
  • Imperiale TF , RansohoffDF, ItzkowitzSHet al. Fecal DNA versus fecal occult blood for colorectal-cancer screening in an average-risk population. N. Engl. J. Med. 351 (26), 2704 – 2714 (2004).
  • Oono Y , IriguchiY, DoiYet al. A retrospective study of immunochemical fecal occult blood testing for colorectal cancer detection. Clin. Chim. Acta. 411 (11–12), 802 – 805 (2010).
  • Toth K , SiposF, KalmarAet al. Detection of methylated SEPT9 in plasma is a reliable screening method for both left- and right-sided colon cancers. PLoS ONE 7 (9), e46000 (2012).
  • Wild N , AndresH, RollingerWet al. A combination of serum markers for the early detection of colorectal cancer. Clin. Cancer Res. 16, 6111 – 6121 (2010).
  • Chen JS , ChenKT, FanWCet al. Combined analysis of survivin autoantibody and carcinoembryonic antigen biomarkers for improved detection of colorectal cancer. Clin. Chem. Lab. Med. 48, 719 – 725 (2010).
  • Yu H , SonGM, JohYG. The clinical significance of preoperative serum levels of carbohydrate antigen 19-19 in colorectal cancer.J. Korean Surg. Soc.84 (4), 231 – 237 (2013).
  • Locker GY , HamiltonS, HarrisJet al. ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. J. Clin. Oncol. 24, 5313 – 5327 (2006).
  • Tan EM , SchurPH, CarrRI, KunkelHG. Deoxybonucleic acid (DNA) and antibodies to DNA in the serum of patients with systemic lupus erythematosus.J. Clin. Invest.45, 1732 – 1740 (1966).
  • Leon SA , ShapiroB, SklaroffDM, YarosMJ. Free DNA in the serum of cancer patients and the effect of therapy.Cancer Res.37, 646 – 650 (1977).
  • Lofton-Day C , ModelF, DevosTet al. DNA methylation biomarkers for blood-based colorectal cancer screening. Clin. Chem. 54, 414 – 423 (2008).
  • Grutzmann R , MolnarB, PilarskyCet al. Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay. PLoS ONE 3, e3759 (2008).
  • deVos T , TetznerR, ModelFet al. Circulating methylated SEPT9 DNA in plasma is a biomarker for colorectal cancer. Clin. Chem. 55, 1337 – 1346 (2009).
  • Tanzer M , BalluffB, DistlerJet al. Performance of epigenetic markers SEPT9 and ALX4 in plasma for detection of colorectal precancerous lesions. PLoS ONE 5, e9061 (2010).
  • Payne SR . From discovery to the clinic: the novel DNA methylation biomarker (m)SEPT9 for the detection of colorectal cancer in blood.Epigenomics2, 575 – 585 (2010).
  • Warren JD , XiongW, BunkerAMet al. Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancer. BMC Med. 9, 133 (2011).
  • Church TR , WandellM, Lofton–DayCet al. Prospective clinical validation of an assay for methylated SEPT9 DNA in human plasma as a colorectal cancer screening tool in average risk men and women ≥50 years. Gastroenterology 139 (1), e18 (2010).
  • Church TR , WandellM, Lofton-DayCet al. Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer. Gut 63 (2), 317 – 325 (2014).
  • Lee HS , HwangSM, KimTSet al. Circulating methylated septin 9 nucleic acid in the plasma of patients with gastrointestinal cancer in the stomach and colon. Transl. Oncol. 6 (3), 290 – 296 (2013).
  • Bosch LJW , CarvalhoB, FijnemanRJAet al. Molecular tests for colorectal cancer screening. Clin. Colorectal Cancer 10 (1), 8 – 23 (2011).
  • Melotte V , LentjesMHFM, van den BoschSMet al. N-Myc downstream-regulated gene 4 (NDRG4): a candidate tumor suppressor gene and potential biomarker for colorectal cancer. J. Natl Cancer Inst. 101 (13), 916 – 927 (2009).
  • Bosch LJ , OortFA, NeerincxMet al. DNA methylation of phosphatase and actin regulator 3 detects colorectal cancer in stool and complements FIT. Cancer Prev. Res. (Phila). 5 (3), 464 – 472 (2012).
  • Wood AJ , OakeyRJ. Genomic imprinting in mammals: emerging themes and established theories.PLoS Genet.2 (11), e147 (2006).
  • Reik W , DeanW, WalterJ. Epigenetic reprogramming in mammalian development.Science1293 (5532), 1089 – 1093 (2001).
  • Ehrlich M , Gama SosaMA, HuangL-Het al. Amount and distribution of 5-methylcytosine in human DNA from different types of tissues or cells. Nucleic Acids Res. 10 (8), 2709 – 2721 (1982).
  • Tucker KL . Methylated cytosine and the brain: a new base for neuroscience.Neuron30 (3), 649 – 652 (2001).
  • Craig JM , WongNC. Epigenetics: a Reference Manual.Caister Academic Press, Norfolk, UK (2011).
  • Daura-Oller E , CabreM, MonteroMA, PaternainJL, RomeuA. Specific gene hypomethylation and cancer: new insights into coding region feature trends.Bioinformation.3 (8), 340 – 343 (2009).
  • Choy MK , MovassaghM, GohHG, BennettM, DownT, FooR. Genome-wide conserved consensus transcription factor binding motifs are hypermethylated.BMC Genomics11, 519 (2010).
  • Longtine MS , DeMariniDJ, ValencikMLet al. The septins: roles in cytokinesis and other processes. Curr. Opin. Cell Biol. 8 (1), 106 – 119 (1996).
  • Kinoshita M , NodaM. Roles of septins in the mammalian cytokinesis machinery.Cell Struct. Funct.26, 667 – 670 (2001).
  • Joo E , TsangCW, TrimbleWS. Septins: traffic control at the cytokinesis intersection.Traffic6, 626 – 634 (2005).
  • Sellin ME , HolmfeldtP, StenmarkS, GullbergM. Microtubules support a disc-like septin arrangement at the plasma membrane of mammalian cells.Mol. Biol. Cell.22, 4588 – 4601 (2011).
  • Mostowy S , JanelS, ForestierCet al. A role for septins in the interaction between the Listeria monocytogenes invasion protein InlB and the Met receptor. Biophys. J. 100, 1949 – 1959 (2011).
  • Hagiwara A , TanakaY, HikawaRet al. Submembranous septins as relatively stable components of actin-based membrane skeleton. Cytoskeleton 68, 512 – 525 (2011).
  • Kissel H , GeorgescuMM, LarischS, ManovaK, HunnicuttGR, StellerH. The Sept4 septin locus is required for sperm terminal differentiation in mice.Dev. Cell.8, 353 – 364 (2005).
  • Ihara M , KinoshitaA, YamadaSet al. Cortical organization by the septin cytoskeleton is essential for structural and mechanical integrity of mammalian spermatozoa. Dev. Cell. 8, 343 – 352 (2005).
  • Hu Q , MilenkovicL, JinHet al. A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution. Science 329, 436 – 439 (2010).
  • Kim SK , ShindoA, ParkTJet al. Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science 329, 1337 – 1340 (2010).
  • Chih B , LiuP, ChinnYet al. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat. Cell Biol. 14, 61 – 72 (2011).
  • Tada T , SimonettaA, BattertonM, KinoshitaM, EdbauerD, ShengM. Role of septin cytoskeleton in spine morphogenesis and dendrite development in neurons.Curr. Biol.17, 1752 – 1758 (2007).
  • Xie Y , VesseyJP, KonecnaA, DahmR, MacchiP, KieblerMA. The GTP-binding protein septin 7 is critical for dendrite branching and dendritic-spine morphology.Curr. Biol.17, 1746 – 1751 (2007).
  • Mostowy S , Nam ThamT, DanckaertAet al. Septins regulate bacterial entry into host cells. PLoS ONE 4, e4196 (2009).
  • Mostowy S , BonazziM, HamonMAet al. Entrapment of intracytosolic bacteria by septin cage-like structures. Cell Host Microbe 18, 433 – 444 (2010).
  • McDade SS , HallPA, RussellSEH. Translational control of SEPT9 isoforms is perturbed in disease.Hum. Mol. Genet.16 (7), 742 – 752 (2007).
  • McIlhatton MA ., BurrowsJF, DonaghyPG, ChanduloyS, JohnstonPG, RussellSE. Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3.Oncogene20, 5930 – 5939 (2001).
  • Montagna C , LyuMS, HunterKet al. The septin 9 (MSF) gene is amplified and overexpressed in mouse mammary gland adenocarcinomas and human breast cancer cell lines. Cancer Res. 63 (9), 2179 – 2187 (2003).
  • Connolly D , YangZ, CastaldiMet al. Septin 9 isoform expression, localization and epigenetic changes during human and mouse breast cancer progression. Breast Cancer Res. 13 (4), R76 ( 2011).
  • Tanaka M , KijimaH, ItohJ, MatsudaT, TanakaT. Impaired expression of a human septin family gene Bradeion inhibits the growth and tumorigenesis of colorectal cancer in vitro and in vivo.Cancer Gene Ther.9 (6), 483 – 488 (2002).
  • Burrows JF , ChanduloyS, McIlhattonMAet al. Altered expression of the septin gene, SEPT9, in ovarian neoplasia. J. Pathol. 201 (4), 581 – 588 (2003).
  • Scott M , HylandPL, McGregorG, HillanKJ, RussellSE, HallPA. Multimodality expression profiling shows SEPT9 to be overexpressed in a wide range of human tumours.Oncogene24 (29), 4688 – 4700 (2005).
  • Scott M , McCluggageWG, HillanKJ, HallPA, RussellSE. Altered patterns of transcription of the septin gene, SEPT9, in ovarian tumorigenesis.Int. J. Cancer118 (5), 1325 – 1329 (2006).
  • Bennett, KL, Karpenko, M, Lin, MTet al. Frequently methylated tumor suppressor genes in head and neck squamous cell carcinoma. Cancer Res. 68, 4494 – 4499 (2008).
  • Gulten T , YakutT, KarkucakM, BaytanB, GunesAM. AML1 amplification and 17q25 deletion in a case of childhood acute lymphoblastic leukemia.J. Clin. Lab. Anal.23 (6), 368 – 371 (2009).
  • Mostowy S , CossartP. Septins: the fourth component of the cytoskeleton.Nat. Rev. Mol. Cell Biol.13 (3), 183 – 194 (2012).
  • Sellin ME , SandbladL, StenmarkS, GullbergM. Deciphering the rules governing assembly order of mammalian septin complexes.Mol. Biol. Cell.22 (17), 3152 – 3164 (2011).
  • Kim MS , FroeseCD, EsteyMP, TrimbleWS. SEPT9 occupies the terminal positions in septinoctamers and mediates polymerization-dependent functions in abscission.J. Cell. Biol.195 (5), 815 – 826 (2011).
  • Estey MP , Di Ciano-OliveiraC, FroeseCD, BejideMT, TrimbleWS. Distinct roles of septins in cytokinesis: SEPT9 mediates midbody abscission.J. Cell. Biol.191 (4), 741 – 749 (2010).
  • Sirajuddin M , FarkasovskyM, HauerFet al. Structural insight into filament formation by mammalian septins. Nature 449 (7160), 311 – 315 (2007).
  • Joo E , TsangCW, TrimbleWS. Septins: traffic control at the cytokinesis intersection.Traffic6 (8), 626 – 634 (2005).
  • Nagata K , AsanoT, NozawaY, InagakiM. Biochemical and cell biological analyses of a mammalian septin complex, Sept7/9b/11.J. Biol. Chem.279 (53), 55895 – 55904 (2004).
  • Nagata K , KawajiriA, MatsuiSet al. Filament formation of MSF-A, a mammalian septin, in human mammary epithelial cells depends on interactions with microtubules. J. Biol. Chem. 278 (20), 18538 – 18543 (2003).
  • Kurosu T , TsujiK, OhkiMet al. A variant-type MLL/SEPT9 fusion transcript in adult de novo acute monocytic leukemia (M5b) with t(11;17)(q23;q25). Int. J. Hematol. 88, 192 – 196 (2008).
  • Osaka M , RowleyJD, Zeleznik-LeNJ. MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25).Proc. Natl Acad. Sci. USA96, 6428 – 6433 (1999).
  • Russell SE , McIlhattonMA, BurrowsJFet al. Isolation and mapping of a human septin gene to a region onchromosome 17q, commonly deleted in sporadic epithelial ovarian tumors. Cancer Res. 60, 4729 – 4734 (2000).
  • Jones PA , BaylinSB. The epigenomics of cancer.Cell128 (4), 683 – 692 (2007).
  • Toth K , GalambO, SpisakSet al. The Influence of methylated septin 9 gene on RNA and protein level in colorectal cancer. Pathol. Oncol. Res. 17, 503 – 509 (2011).
  • Amir S , GolanM, MabjeeshNJ. Targeted knockdown of SEPT9_v1 inhibits tumor growth and angiogenesis of human prostate cancer cells concomitant with disruption of hypoxia-inducible factor-1 pathway.Mol. Cancer Res.8 (5), 643 – 652 (2010).
  • Kakehashi A , IshiiN, ShibataTet al. Mitochondrial prohibitins and septin 9 are implicated in the onset of rat hepatocarcinogenesis. Toxicol. Sci. 119 (1), 61 – 72 (2011).
  • Wasserkort R , KalmarA, ValczGet al. Aberrant septin 9 DNA methylation in colorectal cancer is restricted to a single CpG island. BMC Cancer 13 (1), 398 (2013).
  • Estey MP , KimMS, TrimbleWS. Septins.Curr. Biol.21 (10), R384 – R387 (2011).
  • UCSC Genome Bioinformatics . http://genome.ucsc.edu
  • Leon SA , ShapiroB, SklaroffDM, YarosMJ. Free DNA in the serum of cancer patients and the effect of therapy.Cancer Res.37, 646 – 650 (1977).
  • Matei DE , NephewKP. Epigenetic therapies for chemoresensitization of epithelial ovarian cancer.Gynecol. Oncol.16, 195 – 201 (2010).
  • Levenson VV . DNA methylation as a universal biomarker.Expert Rev. Mol. Diagn.10 (4), 481 – 488 (2010).
  • Levenson VV , MelnikovAA. DNA methylation as clinically useful biomarkers-light at the end of the tunnel.Pharmaceuticals5, 94 – 113 (2012).
  • Atamaniuk J , VidottoC, KinzlbauerM, BachlN, TiranB, TschanH. Cell-free plasma DNA and purine nucleotide degradation markers following weightlifting exercise.Eur. J. Appl. Physiol.110, 695 – 701 (2010).
  • Lo YM , RainerTH, ChanLY, HjelmNM, CocksRA. Plasma DNA as a prognostic marker in trauma patients.Clin. Chem.46, 319 – 323 (2000).
  • Giacona MB , RubenGC, IczkowskiKA, RoosTB, PorterDM, SorensonGD. Cell-free DNA in human blood plasma: length measurements of cell-free circulating DNA among patients with pancreatic cancer and healthy controls.Pancreas17, 89 – 97 (1998).
  • Liggett T , MelnikovA, YiQLet al. Differential methylation of cell-free circulating DNA among patients with pancreatic cancer versus chronic pancreatitis. Cancer 116, 1674 – 1680 (2010).
  • Rainer TH , WongLK, LamWet al. Prognostic use of circulating plasma nucleic acid concentrations in patients with acute stroke. Clin. Chem. 49, 562 – 569 (2003).
  • Goebel G , ZittM, ZittM, MullerHM. Circulating nucleic acids in plasma or serum (CNAPS) as prognostic and predictive markers in patients with solid neoplasms.Dis. Markers.21, 105 – 120 (2005).
  • Summers T , LanganRC, NissanAet al. Serum-based DNA methylation biomarkers in colorectal cancer: potential for screening and early detection. J. Cancer 4 (3), 210 – 216 (2013).
  • Laird PW . The power and the promise of DNA methylation markers.Nat. Rev.3, 253 – 266 (2003).
  • Liggett T , MelnikovA, YiQet al. Distinctive DNA methylation patterns of cell-free plasma DNA in women with malignant ovarian tumors. Gynecol. Oncol. 120, 113 – 120 (2011).
  • Morikawa T , KatoJ, YamajiY, WadaR, MitsushimaT, ShiratoriY. A comparison of the immunochemical fecal occult blood test and total colonoscopy in the asymptomatic population.Gastroenterology129 (2), 422 – 428 (2005).
  • Levin B , LiebermanDA, McFarlandBet al. Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. Gastroenterology 134, 1570 – 1595 (2008).
  • Wong CK , FedorakRN, ProsserCI, StewartME, van ZantenSV, SadowskiDC. The sensitivity and specificity of guaiac and immunochemical fecal occult blood tests for the detection of advanced colonic adenomas and cancer.Int. J. Colorectal Dis.27 (12), 1657 – 1664 (2012).
  • Mandel JS , BondJH, ChurchTRet al. Reducing mortality from colorectal cancer by screening for fecal occult blood. N. Engl. J. Med. 328, 1365 – 1371 (1993).
  • Kronborg O , FengerC, OlsenJet al. Randomised study of screening for colorectal cancer with faecal-occult-blood test. Lancet 348, 1467 – 1471 (1996).
  • Hardcastle JD , ChamberlainJO, RobinsonMHet al. Randomised controlled trial of faecal-occult-blood screening for colorectal cancer. Lancet 348, 1472 – 1477 (1996).
  • Mandel JS , ChurchTR, EdererFet al. Colorectal cancer mortality: effectiveness of biennial screening for fecal occult blood. J. Natl Cancer Inst. 91, 434 – 437 (1999).
  • Benson VS , PatnickJ, DaviesAKet al. Colorectal cancer screening: a comparison of 35 initiatives in 17 countries. Int. J. Cancer 122, 1357 – 1367 (2008).
  • Whitlock EP , LinJS, LilesEet al. Screening for colorectal cancer: a targeted, updated systematic review for the U. S. Preventive Services Task Force. Ann. Intern. Med. 149, 638 – 658 (2008).
  • Lieberman DA . Clinical practice. Screening for colorectal cancer.N. Engl. J. Med.361, 1179 – 1187 (2009).
  • Zhu MM , XuXT, NieFet al. Comparison of immunochemical and guaiac-based fecal occult blood test in screening and surveillance for advanced colorectal neoplasms: a meta-analysis. J. Dig. Dis. 11, 148 – 160 (2008).
  • Vart G , BanziR, MinozziS. Comparing participation rates between immunochemical and guaiac faecal occult blood tests: a systematic review and meta-analysis.Prev. Med.55, 87 – 92 (2012).
  • Ahlquist DA , ZouH, DomanicoMet al. Next-generation stool DNA test accurately detects colorectal cancer and large adenomas. Gastroenterology 142, 248 – 256 (2012).
  • Ahlquist DA , TaylorWR, MahoneyDWet al. The stool DNA test is more accurate than the plasma septin 9 test in detecting colorectal neoplasia. Clin. Gastroenterol. Hepatol. 10, 272 – 277 .e1 ( 2012).
  • Fu H , WangW, CaiQ. The application of combined defection of serum tumor markers levels of patients with colon cancer.Chin. J. Clinicians6 (17), 5087 – 5090 (2012).

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