Evaluation of an assay for methylated BCAT1 and IKZF1 in plasma for detection of colorectal neoplasia

BMC Cancer

Volumn 15, Issue 1, 2015, Pages 1-

  Pedersen, Susanne K ^a   Symonds, Erin L ^b,c   Baker, Rohan T ^a   Murray, David H ^a   McEvoy, Aidan ^a   Van Doorn, Sascha C ^d   Mundt, Marco W ^e   Cole, Stephen R ^b,c   Gopalsamy, Geetha ^b   Mangira, Dileep ^b   LaPointe, Lawrence C ^a   Dekker, Evelien ^d   Young, Graeme P ^b  

^a Clinical Genomics Pty Ltd   (Australia)

^b FLINDERS UNIVERSITY   (Australia)

^c REPATRIATION GENERAL HOSPITAL   (Australia)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e Flevo Hospital   (Netherlands)

Author keywords

BCAT1; Colorectal cancer; DNA methylation; IKZF1; Screening

Indexed keywords

ADULT; ADVANCED CANCER; AGED; ARTICLE; BCAT1 GENE; BLOOD ANALYSIS; CANCER DIAGNOSIS; CANCER LOCALIZATION; CANCER RECURRENCE; CANCER SCREENING; CANCER STAGING; CLINICAL EFFECTIVENESS; COLON SURGERY; COLONOSCOPY; COLORECTAL ADENOMA; COLORECTAL CANCER; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE MARKER; DNA EXTRACTION; FALSE POSITIVE RESULT; FEMALE; HUMAN; HUMAN TISSUE; IKZF1 GENE; MAJOR CLINICAL STUDY; MALE; METHYLATION; MULTICENTER STUDY; OUTCOME ASSESSMENT; POSTOPERATIVE PERIOD; PREOPERATIVE PERIOD; REAL TIME POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; TUMOR INVASION; BLOOD; CLINICAL TRIAL; COLORECTAL NEOPLASMS; DNA METHYLATION; GENETICS; MIDDLE AGED; PROGNOSIS; PROSPECTIVE STUDY; REPRODUCIBILITY; VERY ELDERLY;

AMINOTRANSFERASE; BCAT1 PROTEIN, HUMAN; DNA; IKAROS TRANSCRIPTION FACTOR; IKZF1 PROTEIN, HUMAN; TUMOR MARKER;

ADULT; AGED; AGED, 80 AND OVER; BIOMARKERS, TUMOR; COLORECTAL NEOPLASMS; DNA; DNA METHYLATION; FEMALE; HUMANS; IKAROS TRANSCRIPTION FACTOR; MALE; MIDDLE AGED; NEOPLASM STAGING; PROGNOSIS; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TRANSAMINASES;

EID: 84943586272     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/s12885-015-1674-2     Document Type: Article

References (40)

1. Siegel R, Ma J, Zou Z, Jemal A. Cancer statistics, 2014. CA Cancer J Clin. 2014;64:9-29.
2. Mandel JS, Bond JH, Church TR, Snover DC, Bradley GM, Schuman LM, et al. Reducing mortality from colorectal cancer by screening for fecal occult blood. Minnesota Colon Cancer Control Study. N Engl J Med. 1993;328:1365-71.
3. Kronborg O, Fenger C, Olsen J, Jørgensen OD, Søndergaard O. Randomised study of screening for colorectal cancer with faecal-occult-blood test. Lancet. 1996;348:1467-71.
4. Hardcastle JD, Chamberlain JO, Robinson MH, Moss SM, Amar SS, Balfour TW, et al. Randomised controlled trial of faecal-occult-blood screening for colorectal cancer. Lancet. 1996;348:1472-7.
5. Mandel JS, Church TR, Church BJH, Bond EF, et al. The Effect of Fecal Occult-Blood Screening on the Incidence of Colorectal Cancer. N Engl J Med. 2000;343:1603-7.
6. Holme Ø, Løberg M, Kalager M, Bretthauer M, Hernán MA, Aas E, et al. Effect of Flexible Sigmoidoscopy Screening on Colorectal Cancer Incidence and Mortality: A Randomized Clinical Trial. JAMA. 2014;312:606-15.
7. Australian Institute of Health, Welfare. National Bowel Cancer Screening Program monitoring report 2012-2013. Cancer Series. 2014;81:1-142.
8. Adler A, Geiger S, Keil A, Bias H, Schatz P, deVos T, et al. Improving compliance to colorectal cancer screening using blood and stool based tests in patients refusing screening colonoscopy in Germany. BMC Gastroenterol. 2014;14:1-8.
9. Osborne JM, Wilson C, Moore V, Gregory T, Flight I, Young GP. Sample preference for colorectal cancer screening tests: Blood or stool? OJPM. 2012;2:326-31.
10. Kibriya MG, Raza M, Jasmine F, Roy S, Paul-Brutus R, Rahaman R, et al. A genome-wide DNA methylation study in colorectal carcinoma. BMC Med Genomics. 2011;4:50.
11. Øster B, Thorsen K, Lamy P, Wojdacz TK, Hansen LL, Birkenkamp-Demtröder K, et al. Identification and validation of highly frequent CpG island hypermethylation in colorectal adenomas and carcinomas. Int J Cancer. 2011;129:2855-66.
12. deVos T, Tetzner R, Model F, Weiss G, Schuster M, Distler J, et al. Circulating Methylated SEPT9 DNA in Plasma Is a Biomarker for Colorectal Cancer. Clin Chem. 2009;55:1337-46.
13. Church TR, Wandell M, Lofton-Day C, Mongin SJ, Burger M, Payne SR, et al. Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer. Gut. 2014;63:317-25.
14. Mitchell SM, Ross JP, Drew HR, Ho T, Brown GS, Saunders NF, et al. A panel of genes methylated with high frequency in colorectal cancer. BMC Cancer. 2014;14:54.
15. Pedersen SK, Baker RT, McEvoy A, Murray DH, Thomas M, Molloy PL, et al. A two-gene blood test for methylated DNA sensitive for colorectal cancer. PLoS One. 2015;10:e0125041.
16. Allison JE, Fraser CG, Halloran SP, Young GP. Population screening for colorectal Cancer means getting FIT: The Past, Present, and Future of colorectal cancer screening using the Fecal Immunochemical Test for Hemoglobin (FIT). Gut and Liver. 2014;8:117-30.
17. Lord SJ, Irwig L, Simes RJ. When Is Measuring Sensitivity and Specificity Sufficient To Evaluate a Diagnostic Test, and When Do We Need Randomized Trials? Ann Intern Med. 2006;144:850-5.
18. Edge SB, Compton CC. The American Joint Committee on Cancer: the 7th edition of the AJCC cancer staging manual and the future of TNM. Ann of Surg Oncol. 2010;17:1471-4.
19. Ferlay J, Soerjomataram I, Dikshit R, Eser S, Mathers C, Rebelo M, et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer. 2015;136:E359-86.
20. Whitlock EP, Lin JS, Liles E, Beil TL, Fu R. Screening for colorectal cancer: a targeted, updated systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2008;149:638-58.
21. Lansdorp-Vogelaar I, van Ballegooijen M, Boer R, Zauber A, Habbema JDF. A novel hypothesis on the sensitivity of the fecal occult blood test: Results of a joint analysis of 3 randomized controlled trials. Cancer. 2009;115:2410-9.
22. Imperiale TF, Ransohoff DF, Itzkowitz SH, Levin TR, Lavin P, Lidgard GP, et al. Multitarget Stool DNA Testing for Colorectal-Cancer Screening. N Engl J Med. 2014;370:1287-97.
23. Lane JM, Chow E, Young GP, Good N, Smith A, Bull J, et al. Interval fecal immunochemical testing in a colonoscopic surveillance program speeds detection of colorectal neoplasia. Gastroenterology. 2010;139:1918-26.
24. Lofton-Day C, Model F, deVos T, Tetzner R, Distler J, Schuster M, et al. DNA methylation biomarkers for blood-based colorectal cancer screening. Clin Chem. 2008;54:414-23.
25. Grützmann R, Molnar B, Pilarsky C, Habermann JK, Schlag PM, Saeger HD, et al. Sensitive Detection of Colorectal Cancer in Peripheral Blood by Septin 9 DNA Methylation Assay. PLoS One. 2008;3:e3759-68.
26. Warren JD, Xiong W, Bunker AM, Vaughn CP, Furtado LV, Roberts WL, et al. Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancer. BMC Med. 2011;9:133.
27. Yong E. Cancer biomarkers: Written in blood. Nature. 2014;511:524-6.
28. Newman AM, Bratman SV, To J, Wynne JF, Eclov NCW, Modlin LA, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med. 2014;20:548-54.
29. Young GP, Symonds EL, Allison JE, Cole SR, Fraser CG, Halloran SP, et al. Advances in Fecal Occult Blood Tests: The FIT Revolution. Dig Dis Sci. 2015;60:609-22.
30. Zhang Z, Xu Z, Wang X, Wang H, Yao Z, Mu Y, et al. Ectopic Ikaros expression positively correlates with lung cancer progression. Anat Rec (Hoboken). 2013;296:907-13.
31. Tonjes M, Barbus S, Park YJ, Wang W, Schlotter M, Lindroth AM, et al. BCAT1 promotes cell proliferation through amino acid catabolism in gliomas carrying wild-type IDH1. Nat Med. 2013;19:901-8.
32. Vincent A, Omura N, Hong SM, Jaffe A, Eshleman J, Goggins M. Genome-Wide Analysis of Promoter Methylation Associated with Gene Expression Profile in Pancreatic Adenocarcinoma. Clin Cancer Res. 2011;17:4341-54.
33. Yoshikawa R, Yanagi H, Shen C-S, Fujiwara Y, Noda M, Yagyu T, et al. ECA39 is a novel distant metastasis-related biomarker in colorectal cancer. World J Gastroenterol. 2006;12:5884-9.
34. Javierre BM, Rodriguez-Ubreva J, Al-Shahrour F, Corominas M, Grana O, Ciudad L, et al. Long-Range Epigenetic Silencing Associates with Deregulation of Ikaros Targets in Colorectal Cancer Cells. Mol Cancer Res. 2011;9:1139-51.
35. Iacobucci I, Storlazzi CT, Cilloni D, Lonetti A, Ottaviani E, Soverini S, et al. Identification and molecular characterization of recurrent genomic deletions on 7p12 in the IKZF1 gene in a large cohort of BCR-ABL1-positive acute lymphoblastic leukemia patients: on behalf of Gruppo Italiano Malattie Ematologiche dell'Adulto Acute Leukemia Working Party (GIMEMA AL WP). Blood. 2009;114:2159-67.
36. Malinge S, Thiollier C, Chlon TM, Dore LC, Diebold L, Bluteau O, et al. Ikaros inhibits megakaryopoiesis through functional interaction with GATA-1 and NOTCH signaling. Blood. 2013;121:2440-51.
37. Riccio O, van Gijn ME, Bezdek AC, Pellegrinet L, van Es JH, Zimber-Strobl U, et al. Loss of intestinal crypt progenitor cells owing to inactivation of both Notch1 and Notch2 is accompanied by derepression of CDK inhibitors p27Kip1 and p57Kip2. EMBO. 2008;9:377-83.
38. Noah TK, Shroyer NF. Notch in the Intestine: Regulation of Homeostasis and Pathogenesis. Annu Rev of Physiol. 2013;75:263-88.
39. Diehl F, Schmidt K, Choti MA, Romans K, Goodman S, Li M, et al. Circulating mutant DNA to assess tumor dynamics. Nat Med. 2008;14:985-90.
40. Tham C, Chew M, Soong R, Lim J, Ang M, Tang C, et al. Postoperative serum methylation levels of TAC1 and SEPT9 are independent predictors of recurrence and survival of patients with colorectal cancer. Cancer. 2014;120:3131-41.