دورية أكاديمية

DNA methylation biomarkers in colorectal cancer: Clinical applications for precision medicine.

التفاصيل البيبلوغرافية
العنوان: DNA methylation biomarkers in colorectal cancer: Clinical applications for precision medicine.
المؤلفون: Fatemi N; Basic & Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology & Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran., Tierling S; Department of Genetics/Epigenetics, Faculty NT, Life Sciences, Saarland University, Saarbrücken, Germany., Es HA; School of Biomedical Engineering, University of Technology Sydney, Sydney, Australia., Varkiani M; Department of Molecular Genetics, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, Tehran, Iran., Mojarad EN; Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Aghdaei HA; Basic & Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology & Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran., Walter J; Department of Genetics/Epigenetics, Faculty NT, Life Sciences, Saarland University, Saarbrücken, Germany., Totonchi M; Basic & Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology & Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran.; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran.
المصدر: International journal of cancer [Int J Cancer] 2022 Dec 15; Vol. 151 (12), pp. 2068-2081. Date of Electronic Publication: 2022 Jul 09.
نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0042124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0215 (Electronic) Linking ISSN: 00207136 NLM ISO Abbreviation: Int J Cancer Subsets: MEDLINE
أسماء مطبوعة: Publication: 1995- : New York, NY : Wiley-Liss
Original Publication: 1966-1984 : Genève : International Union Against Cancer
مواضيع طبية MeSH: DNA Methylation* , Colorectal Neoplasms*/diagnosis , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/drug therapy, Humans ; Precision Medicine ; Reproducibility of Results ; Biomarkers, Tumor/genetics ; Epigenesis, Genetic
مستخلص: Colorectal cancer (CRC) is the second leading cause of cancer death worldwide that is attributed to gradual long-term accumulation of both genetic and epigenetic changes. To reduce the mortality rate of CRC and to improve treatment efficacy, it will be important to develop accurate noninvasive diagnostic tests for screening, acute and personalized diagnosis. Epigenetic changes such as DNA methylation play an important role in the development and progression of CRC. Over the last decade, a panel of DNA methylation markers has been reported showing a high accuracy and reproducibility in various semi-invasive or noninvasive biosamples. Research to obtain comprehensive panels of markers allowing a highly sensitive and differentiating diagnosis of CRC is ongoing. Moreover, the epigenetic alterations for cancer therapy, as a precision medicine strategy will increase their therapeutic potential over time. Here, we discuss the current state of DNA methylation-based biomarkers and their impact on CRC diagnosis. We emphasize the need to further identify and stratify methylation-biomarkers and to develop robust and effective detection methods that are applicable for a routine clinical setting of CRC diagnostics particularly at the early stage of the disease.
(© 2022 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.)
References: Sawicki T, Ruszkowska M, Danielewicz A, Niedźwiedzka E, Arłukowicz T, Przybyłowicz KE. A review of colorectal cancer in terms of epidemiology, risk factors, development, symptoms and diagnosis. Cancers. 2021;13:2025.
Levin TR, Corley DA, Jensen CD, et al. Effects of organized colorectal cancer screening on cancer incidence and mortality in a large community-based population. Gastroenterology. 2018;155:1383-1391.
Navarro M, Nicolas A, Ferrandez A, Lanas A. Colorectal cancer population screening programs worldwide in 2016: an update. World J Gastroenterol. 2017;23:3632-3642.
Dickinson BT, Kisiel J, Ahlquist DA, Grady WM. Molecular markers for colorectal cancer screening. Gut. 2015;64:1485-1494.
Guinney J, Dienstmann R, Wang X, et al. The consensus molecular subtypes of colorectal cancer. Nat Med. 2015;21:1350-1356.
Sawayama H, Miyamoto Y, Ogawa K, Yoshida N, Baba H. Investigation of colorectal cancer in accordance with consensus molecular subtype classification. Ann Gastroenterol Surg. 2020;4:528-539.
Lu Y, Chan Y-T, Tan H-Y, Li S, Wang N, Feng Y. Epigenetic regulation in human cancer: the potential role of epi-drug in cancer therapy. Mol Cancer. 2020;19:1-16.
Dor Y, Cedar H. Principles of DNA methylation and their implications for biology and medicine. Lancet. 2018;392:777-786.
Jung G, Hernández-Illán E, Moreira L, Balaguer F, Goel A. Epigenetics of colorectal cancer: biomarker and therapeutic potential. Nat Rev Gastroenterol Hepatol. 2020;17:111-130.
Cervena K, Siskova A, Buchler T, Vodicka P, Vymetalkova V. Methylation-based therapies for colorectal cancer. Cells. 2020;9:1540.
Miranda E, Destro A, Malesci A, et al. Genetic and epigenetic changes in primary metastatic and nonmetastatic colorectal cancer. Br J Cancer. 2006;95:1101-1107.
Dobre M, Salvi A, Pelisenco IA, et al. Crosstalk between DNA methylation and gene mutations in colorectal cancer. Front Oncol. 2021;11:697409.
Campoli M, Ferrone S. HLA antigen changes in malignant cells: epigenetic mechanisms and biologic significance. Oncogene. 2008;27:5869-5885.
Kerachian MA, Kerachian M. Long interspersed nucleotide element-1 (LINE-1) methylation in colorectal cancer. Clin Chim Acta. 2019;488:209-214.
Inamura K, Yamauchi M, Nishihara R, et al. Tumor LINE-1 methylation level and microsatellite instability in relation to colorectal cancer prognosis. J Natl Cancer Inst. 2014;106:dju195.
Barchitta M, Maugeri A, Li Destri G, Basile G, Agodi A. Epigenetic biomarkers in colorectal cancer patients receiving adjuvant or neoadjuvant therapy: a systematic review of epidemiological studies. Int J Mol Sci. 2019;20:3842.
Yi JM. DNA methylation change profiling of colorectal disease: screening towards clinical use. Life. 2021;11:412.
Casalino L, Verde P. Multifaceted roles of DNA methylation in neoplastic transformation, from tumor suppressors to EMT and metastasis. Genes. 2020;11:922.
Lu J, Wilfred P, Korbie D, Trau M. Regulation of canonical oncogenic signaling pathways in cancer via DNA methylation. Cancer. 2020;12:3199.
Lakshminarasimhan R, Liang G. The role of DNA methylation in cancer. Adv Exp Med Biol. 2016;945:151-172.
Fu B, Yan P, Zhang S, et al. Cell-free circulating methylated SEPT9 for noninvasive diagnosis and monitoring of colorectal cancer. Dis Markers. 2018;2018:1-11.
Zhao G, Liu X, Liu Y, et al. Aberrant DNA methylation of SEPT9 and SDC2 in stool specimens as an integrated biomarker for colorectal cancer early detection. Front Genet. 2020;11:643.
Zhao G, Liu X, Liu Y, et al. Methylated SFRP2 and SDC2 in stool specimens for colorectal cancer early detection: a cost-effective strategy for Chinese population. J Cancer. 2021;12:2665-2672.
Song L, Jia J, Peng X, Xiao W, Li Y. The performance of the SEPT9 gene methylation assay and a comparison with other CRC screening tests: a meta-analysis. Sci Rep. 2017;7:1-12.
Tiffon C. The impact of nutrition and environmental epigenetics on human health and disease. Int J Mol Sci. 2018;19:3425.
Yang Z-H, Dang Y-Q, Ji G. Role of epigenetics in transformation of inflammation into colorectal cancer. World J Gastroenterol. 2019;25:2863-2877.
Aranda-Olmedo I, Rubio LA. Dietary legumes, intestinal microbiota, inflammation and colorectal cancer. J Funct Foods. 2020;64:103707.
Gào X, Zhang Y, Boakye D, et al. Whole blood DNA methylation aging markers predict colorectal cancer survival: a prospective cohort study. Clin Epigenetics. 2020;12:1-13.
Romanov G, Sukhoverov V, Vanyushin B. Epigenetic mutagenesis as program of age-related protein dysfunction and aging. Russ J Dev Biol. 2015;46:78-87.
Galamb O, Kalmár A, Barták BK, et al. Aging related methylation influences the gene expression of key control genes in colorectal cancer and adenoma. World J Gastroenterol. 2016;22:10325.
Bekdash RA. Early life nutrition and mental health: the role of DNA methylation. Nutrients. 2021;13:3111.
Łoboś P, Regulska-Ilow B. Link between methyl nutrients and the DNA methylation process in the course of selected diseases in adults. Rocz Panstw Zakl Hig. 2021;72:123-136.
Schernhammer ES, Giovannucci E, Kawasaki T, Rosner B, Fuchs CS, Ogino S. Dietary folate, alcohol and B vitamins in relation to LINE-1 hypomethylation in colon cancer. Gut. 2010;59:794-799.
Boughanem H, Hernandez-Alonso P, Tinahones A, et al. Association between serum vitamin B12 and global DNA methylation in colorectal cancer patients. Nutrients. 2020;12:3567.
Jordà M, Díez-Villanueva A, Mallona I, et al. The epigenetic landscape of Alu repeats delineates the structural and functional genomic architecture of colon cancer cells. Genome Res. 2017;27:118-132.
Chen L-L, Yang L. ALUternative regulation for gene expression. Trends Cell Biol. 2017;27:480-490.
Al Jowf GI, Snijders C, Rutten BP, de Nijs L, Eijssen LM. The molecular biology of susceptibility to post-traumatic stress disorder: highlights of epigenetics and epigenomics. Int J Mol Sci. 2021;22:10743.
Mehta D, Miller O, Bruenig D, David G, Shakespeare-Finch J. A systematic review of DNA methylation and gene expression studies in posttraumatic stress disorder, posttraumatic growth, and resilience. J Trauma Stress. 2020;33:171-180.
Lech G, Słotwiński R, Słodkowski M, Krasnodębski IW. Colorectal cancer tumour markers and biomarkers: recent therapeutic advances. World J Gastroenterol. 2016;22:1745-1755.
Simon K. Colorectal cancer development and advances in screening. Clin Interv Aging. 2016;11:967-976.
Videtic Paska A, Hudler P. Aberrant methylation patterns in cancer: a clinical view. Biochem Med. 2015;25:161-176.
Liu Y, Chew MH, Tham CK, Tang CL, Ong SY, Zhao Y. Methylation of serum SST gene is an independent prognostic marker in colorectal cancer. Am J Cancer Res. 2016;6:2098-2108.
Guo M, Peng Y, Gao A, Du C, Herman JG. Epigenetic heterogeneity in cancer. Biomarker Res. 2019;7:1-19.
Chang E, Park DI, Kim YJ, et al. Detection of colorectal neoplasm using promoter methylation of ITGA4, SFRP2, and p16 in stool samples: a preliminary report in Korean patients. Hepatogastroenterology. 2010;57:720-727.
Zou H-Z, Yu B-M, Wang Z-W, et al. Detection of aberrant p16 methylation in the serum of colorectal cancer patients. Clin Cancer Res. 2002;8:188-191.
Petko Z, Ghiassi M, Shuber A, et al. Aberrantly methylated CDKN2A, MGMT, and MLH1 in colon polyps and in fecal DNA from patients with colorectal polyps. Clin Cancer Res. 2005;11:1203-1209.
Huang Z-H, Li L-H, Yang F, Wang J-F. Detection of aberrant methylation in fecal DNA as a molecular screening tool for colorectal cancer and precancerous lesions. World J Gastroenterol: WJG. 2007;13:950.
Baek YH, Chang E, Kim YJ, Kim BK, Sohn JH, Park DI. Stool methylation-specific polymerase chain reaction assay for the detection of colorectal neoplasia in Korean patients. Dis Colon Rectum. 2009;52:1452-1459.
Grady WM, Rajput A, Lutterbaugh JD, Markowitz SD. Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer. Cancer Res. 2001;61:900-902.
Wallner M, Herbst A, Behrens A, et al. Methylation of serum DNA is an independent prognostic marker in colorectal cancer. Clin Cancer Res. 2006;12:7347-7352.
Hu H, Chen X, Wang C, et al. The role of TFPI2 hypermethylation in the detection of gastric and colorectal cancer. Oncotarget. 2017;8:84054-84065.
Zhang W, Yang C, Wang S, et al. SDC2 and TFPI2 methylation in stool samples as an integrated biomarker for early detection of colorectal cancer. Cancer Manag Res. 2021;13:3601-3617.
Park S-K, Baek HL, Yu J, et al. Is methylation analysis of SFRP2, TFPI2, NDRG4, and BMP3 promoters suitable for colorectal cancer screening in the Korean population? Intest Res. 2017;15:495.
Xiao W, Zhao H, Dong W, et al. Quantitative detection of methylated NDRG4 gene as a candidate biomarker for diagnosis of colorectal cancer. Oncol Lett. 2015;9:1383-1387.
Oh T, Kim N, Moon Y, et al. Genome-wide identification and validation of a novel methylation biomarker, SDC2, for blood-based detection of colorectal cancer. J Mol Diagn. 2013;15:498-507.
Barták BK, Kalmár A, Péterfia B, et al. Colorectal adenoma and cancer detection based on altered methylation pattern of SFRP1, SFRP2, SDC2, and PRIMA1 in plasma samples. Epigenetics. 2017;12:751-763.
Rokni P, Shariatpanahi AM, Sakhinia E, Kerachian MA. BMP3 promoter hypermethylation in plasma-derived cell-free DNA in colorectal cancer patients. Genes Genomics. 2018;40:423-428.
Houshmand M, Abbaszadegan MR, Kerachian MA. Assessment of bone morphogenetic protein 3 methylation in Iranian patients with colorectal cancer. Middle East J Dig Dis. 2017;9:158-163.
Kalmár A, Péterfia B, Hollósi P, et al. DNA hypermethylation and decreased mRNA expression of MAL, PRIMA1, PTGDR and SFRP1 in colorectal adenoma and cancer. BMC Cancer. 2015;15:1-14.
Carmona FJ, Azuara D, Berenguer-Llergo A, et al. DNA methylation biomarkers for noninvasive diagnosis of colorectal cancer. Cancer Prev Res. 2013;6:656-665.
Wu D, Zhou G, Jin P, et al. Detection of colorectal cancer using a simplified SEPT9 gene methylation assay is a reliable method for opportunistic screening. J Mol Diagn. 2016;18:535-545.
Liu Y, Zhao G, Miao J, et al. Performance comparison between plasma and stool methylated SEPT9 tests for detecting colorectal cancer. Front Genet. 2020;11:324.
Babaei H, Mohammadi M, Salehi R. DNA methylation analysis of secreted frizzled-related protein 2 gene for the early detection of colorectal cancer in fecal DNA. Niger Med J. 2016;57:242.
Li M, Chen W-d, Papadopoulos N, et al. Sensitive digital quantification of DNA methylation in clinical samples. Nat Biotechnol. 2009;27:858-863.
Xiao Z, Li B, Wang G, et al. Validation of methylation-sensitive high-resolution melting (MS-HRM) for the detection of stool DNA methylation in colorectal neoplasms. Clin Chim Acta. 2014;431:154-163.
Michailidi C, Theocharis S, Tsourouflis G, et al. Expression and promoter methylation status of hMLH1, MGMT, APC, and CDH1 genes in patients with colon adenocarcinoma. Exp Biol Med. 2015;240:1599-1605.
Malpeli G, Innamorati G, Decimo I, et al. Methylation dynamics of RASSF1A and its impact on cancer. Cancer. 2019;11:959.
Imperiale TF, Ransohoff DF, Itzkowitz SH, et al. Multitarget stool DNA testing for colorectal-cancer screening. N Engl J Med. 2014;370:1287-1297.
Koch A, Joosten SC, Feng Z, et al. Analysis of DNA methylation in cancer: location revisited. Nat Rev Clin Oncol. 2018;15:459-466.
Lamb YN, Dhillon S. Epi proColon® 2.0 CE: a blood-based screening test for colorectal cancer. Mol Diagn Ther. 2017;21:225-232.
Jin P, Kang Q, Wang X, et al. Performance of a second-generation methylated SEPT9 test in detecting colorectal neoplasm. J Gastroenterol Hepatol. 2015;30:830-833.
Dietrich D. DNA methylation analysis from body fluids. Methods Mol Biol. 2018;1655:239-249.
Ørntoft M-BW. Review of blood-based colorectal cancer screening: how far are circulating cell-free DNA methylation markers from clinical implementation? Clin Colorectal Cancer. 2018;17:e415-e433.
Chen Y, Wang Z, Zhao G, et al. Performance of a novel blood-based early colorectal cancer screening assay in remaining serum after the blood biochemical test. Dis Markers. 2019;2019:1-6.
Zhao G, Li H, Yang Z, et al. Multiplex methylated DNA testing in plasma with high sensitivity and specificity for colorectal cancer screening. Cancer Med. 2019;8:5619-5628.
Rasmussen SL, Krarup HB, Sunesen KG, et al. Hypermethylated DNA, a circulating biomarker for colorectal cancer detection. PLoS One. 2017;12:e0180809.
Pakbaz B, Jabinin R, Soltani N, Ayatollahi H, Farzanehfar MR. Quantitative study of vimentin gene methylation in stool samples for colorectal cancer screening. J Adv Pharm Technol Res. 2019;10:121.
Ned RM, Melillo S, Marrone M. Fecal DNA testing for colorectal cancer screening: the ColoSure™ test. PLoS Curr. 2011;3:RRN1220.
El Bairi K, Tariq K, Himri I, et al. Decoding colorectal cancer epigenomics. Cancer Genet. 2018;220:49-76.
Pedersen SK, Symonds EL, Baker RT, et al. Evaluation of an assay for methylated BCAT1 and IKZF1 in plasma for detection of colorectal neoplasia. BMC Cancer. 2015;15:1-11.
Jensen SØ, Øgaard N, Ørntoft M-BW, et al. Novel DNA methylation biomarkers show high sensitivity and specificity for blood-based detection of colorectal cancer-a clinical biomarker discovery and validation study. Clin Epigenetics. 2019;11:1-14.
Rademakers G, Massen M, Koch A, et al. Identification of DNA methylation markers for early detection of CRC indicates a role for nervous system-related genes in CRC. Clin Epigenetics. 2021;13:1-12.
Ma ZY, Law WL, Ng EKO, et al. Methylated Septin 9 and carcinoembryonic antigen for serological diagnosis and monitoring of patients with colorectal cancer after surgery. Sci Rep. 2019;9:1-9.
Ahlquist DA, Zou H, Domanico M, et al. Next-generation stool DNA test accurately detects colorectal cancer and large adenomas. Gastroenterology. 2012;142:248-256.
Bosch L, Melotte V, Mongera S, et al. Multitarget stool DNA test performance in an average-risk colorectal cancer screening population. Am J Gastroenterol. 2019;114:1909-1918.
Sovich JL, Sartor Z, Misra S. Developments in screening tests and strategies for colorectal cancer. Biomed Res Int. 2015;2015:1-11.
Swets M, Zaalberg A, Boot A, et al. Tumor LINE-1 methylation level in association with survival of patients with stage II colon cancer. Int J Mol Sci. 2017;18:36.
Nagai Y, Sunami E, Yamamoto Y, et al. LINE-1 hypomethylation status of circulating cell-free DNA in plasma as a biomarker for colorectal cancer. Oncotarget. 2017;8:11906-11916.
Haraldsdottir S, Hampel H, Wu C, et al. Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses. Genet Med. 2016;18:863-868.
Kim SH, Park KH, Shin SJ, et al. CpG Island methylator phenotype and methylation of Wnt pathway genes together predict survival in patients with colorectal cancer. Yonsei Med J. 2018;59:588-594.
Cha Y, Kim K-J, Han S-W, et al. Adverse prognostic impact of the CpG Island methylator phenotype in metastatic colorectal cancer. Br J Cancer. 2016;115:164-171.
Nakayama G, Hibi K, Kodera Y, Koike M, Fujiwara M, Nakao A. P16 methylation in serum as a potential marker for the malignancy of colorectal carcinoma. Anticancer Res. 2007;27:3367-3370.
Yi JM, Dhir M, Van Neste L, et al. Genomic and epigenomic integration identifies a prognostic signature in colon cancer. Clin Cancer Res. 2011;17:1535-1545.
Philipp AB, Nagel D, Stieber P, et al. Circulating cell-free methylated DNA and lactate dehydrogenase release in colorectal cancer. BMC Cancer. 2014;14:1-9.
Herbst A, Vdovin N, Gacesa S, et al. Methylated free-circulating HPP1 DNA is an early response marker in patients with metastatic colorectal cancer. Int J Cancer. 2017;140:2134-2144.
Song L, Guo S, Wang J, et al. The blood mSEPT9 is capable of assessing the surgical therapeutic effect and the prognosis of colorectal cancer. Biomark Med. 2018;12:961-973.
Kawakami K, Matsunoki A, Kaneko M, Saito K, Watanabe G, Minamoto T. Long interspersed nuclear element-1 hypomethylation is a potential biomarker for the prediction of response to oral fluoropyrimidines in microsatellite stable and CpG Island methylator phenotype-negative colorectal cancer. Cancer Sci. 2011;102:166-174.
Amatu A, Sartore-Bianchi A, Moutinho C, et al. Promoter CpG Island hypermethylation of the DNA repair enzyme MGMT predicts clinical response to dacarbazine in a phase II study for metastatic colorectal cancer. Clin Cancer Res. 2013;19:2265-2272.
Nagasaka T, Sharp GB, Notohara K, et al. Hypermethylation of O6-methylguanine-DNA methyltransferase promoter may predict nonrecurrence after chemotherapy in colorectal cancer cases. Clin Cancer Res. 2003;9:5306-5312.
Murcia O, Jover R, Egoavil C, et al. TFAP2E methylation and expression status does not predict response to 5-FU-based chemotherapy in colorectal cancer. Clin Cancer Res. 2018;24:2820-2827.
Ebert MP, Tänzer M, Balluff B, et al. TFAP2E-DKK4 and chemoresistance in colorectal cancer. N Engl J Med. 2012;366:44-53.
Park SJ, Kim S-M, Hong YS, et al. TFAP2E methylation status and prognosis of patients with radically resected colorectal cancer. Oncology. 2015;88:122-132.
Janeckova L, Kolar M, Svec J, et al. HIC1 expression distinguishes intestinal carcinomas sensitive to chemotherapy. Transl Oncol. 2016;9:99-107.
Molinari C, Casadio V, Foca F, et al. Gene methylation in rectal cancer: predictive marker of response to chemoradiotherapy? J Cell Physiol. 2013;228:2343-2349.
Wu D, Chen X, Xu Y, et al. Prognostic value of MLH1 promoter methylation in male patients with esophageal squamous cell carcinoma. Oncol Lett. 2017;13:2745-2750.
Lyberopoulou A, Galanopoulos M, Aravantinos G, et al. Identification of methylation profiles of cancer-related genes in circulating tumor cells population. Anticancer Res. 2017;37:1105-1112.
Hochhauser D, Glynne-Jones R, Potter V, et al. A phase II study of temozolomide in patients with advanced aerodigestive tract and colorectal cancers and methylation of the O6-methylguanine-DNA methyltransferase promoter. Mol Cancer Ther. 2013;12:809-818.
Ribic CM, Sargent DJ, Moore MJ, et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med. 2003;349:247-257.
Sargent DJ, Marsoni S, Monges G, et al. Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol. 2010;28:3219-3226.
Etienne-Grimaldi M, Mahamat A, Chazal M, et al. Molecular patterns in deficient mismatch repair colorectal tumours: results from a French prospective multicentric biological and genetic study. Br J Cancer. 2014;110:2728-2737.
Overman MJ, Morris V, Moinova H, et al. Phase I/II study of azacitidine and capecitabine/oxaliplatin (CAPOX) in refractory CIMP-high metastatic colorectal cancer: evaluation of circulating methylated vimentin. Oncotarget. 2016;7:67495-67506.
Momose K, Yamasaki M, Tanaka K, et al. MLH1 expression predicts the response to preoperative therapy and is associated with PD-L1 expression in esophageal cancer. Oncol Lett. 2017;14:958-964.
Loukovaara M, Pasanen A, Bützow R. Mismatch repair protein and MLH1 methylation status as predictors of response to adjuvant therapy in endometrial cancer. Cancer Med. 2021;10:1034-1042.
Vymetalkova V, Vodicka P, Vodenkova S, Alonso S, Schneider-Stock R. DNA methylation and chromatin modifiers in colorectal cancer. Mol Aspects Med. 2019;69:73-92.
Janson W, Jenkins LJ, Chionh F, Mariadason JM. Aberrant DNA methylation in colorectal cancer: what should we target? Trends Cancer. 2017;3:698-712.
Ikehata M, Ogawa M, Yamada Y, Tanaka S, Ueda K, Iwakawa S. Different effects of epigenetic modifiers on the cytotoxicity induced by 5-fluorouracil, irinotecan or oxaliplatin in colon cancer cells. Biol Pharm Bull. 2014;37:67-73.
Flis S, Gnyszka A, Flis K. DNA methyltransferase inhibitors improve the effect of chemotherapeutic agents in SW48 and HT-29 colorectal cancer cells. PLoS One. 2014;9:e92305.
Baharudin R, Ab Mutalib N-S, Othman SN, et al. Identification of predictive DNA methylation biomarkers for chemotherapy response in colorectal cancer. Front Pharmacol. 2017;8:47.
Henderson R, French D, Sullivan R, Maughan T, Clarke M, Lawler M. Molecular biomarkers and precision medicine in colorectal cancer: a systematic review of health economic analyses. Oncotarget. 2019;10:3408-3423.
Koulis C, Yap R, Engel R, et al. Personalized medicine-current and emerging predictive and prognostic biomarkers in colorectal cancer. Cancer. 2020;12:812.
Okita A, Takahashi S, Ouchi K, et al. Consensus molecular subtypes classification of colorectal cancer as a predictive factor for chemotherapeutic efficacy against metastatic colorectal cancer. Oncotarget. 2018;9:18698-18711.
Mooi JK, Wirapati P, Asher R, et al. The prognostic impact of consensus molecular subtypes (CMS) and its predictive effects for bevacizumab benefit in metastatic colorectal cancer: molecular analysis of the AGITG MAX clinical trial. Ann Oncol. 2018;29:2240-2246.
Shiovitz S, Bertagnolli MM, Renfro LA, et al. CpG Island methylator phenotype is associated with response to adjuvant irinotecan-based therapy for stage III colon cancer. Gastroenterology. 2014;147:637-645.
Ahn JB, Chung WB, Maeda O, et al. DNA methylation predicts recurrence from resected stage III proximal colon cancer. Cancer. 2011;117:1847-1854.
Van Rijnsoever M, Elsaleh H, Joseph D, McCaul K, Iacopetta B. CpG Island methylator phenotype is an independent predictor of survival benefit from 5-fluorouracil in stage III colorectal cancer. Clin Cancer Res. 2003;9:2898-2903.
Di Nicolantonio F, Martini M, Molinari F, et al. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol. 2008;26:1626-1634.
Murcia O, Juárez M, Rodríguez-Soler M, et al. Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: prognostic implications and response to chemotherapy. PLoS One. 2018;13:e0203051.
Kim CH, Huh JW, Kim HR, Kim YJ. CpG Island methylator phenotype is an independent predictor of survival after curative resection for colorectal cancer: a prospective cohort study. J Gastroenterol Hepatol. 2017;32:1469-1474.
Nguyen HT, Duong HQ. The molecular characteristics of colorectal cancer: implications for diagnosis and therapy. Oncol Lett. 2018;16:9-18.
Araujo SE, Bernardo WM, Habr-Gama A, Kiss DR, Cecconello I. DNA ploidy status and prognosis in colorectal cancer: a meta-analysis of published data. Dis Colon Rectum. 2007;50:1800-1810.
Walther A, Houlston R, Tomlinson I. Association between chromosomal instability and prognosis in colorectal cancer: a meta-analysis. Gut. 2008;57:941-950.
Hveem T, Merok M, Pretorius M, et al. Prognostic impact of genomic instability in colorectal cancer. Br J Cancer. 2014;110:2159-2164.
Malone ER, Oliva M, Sabatini PJ, Stockley TL, Siu LL. Molecular profiling for precision cancer therapies. Genome Med. 2020;12:1-19.
Shao Z, Wang T, Zhang M, Jiang Z, Huang S, Zeng P. IUSMMT: survival mediation analysis of gene expression with multiple DNA methylation exposures and its application to cancers of TCGA. PLoS Comput Biol. 2021;17:e1009250.
Wang D, O'Rourke D, Garcia JS, Cai T, Scheuenpflug J, Feng Z. Development of a liquid biopsy based purely quantitative digital droplet PCR assay for detection of MLH1 promoter methylation in colorectal cancer patients. BMC Cancer. 2021;21:797.
Xu F, Yu S, Han J, et al. Detection of circulating tumor DNA methylation in diagnosis of colorectal cancer. Clin Transl Gastroenterol. 2021;12: e00386.
Tierling S, Schuster M, Tetzner R, Walter J. A combined HM-PCR/SNuPE method for high sensitive detection of rare DNA methylation. Epigenetics Chromatin. 2010;3:1-8.
Young GP, Symonds EL, Nielsen HJ, et al. Evaluation of a panel of tumor-specific differentially-methylated DNA regions in IRF4, IKZF1 and BCAT1 for blood-based detection of colorectal cancer. Clin Epigenetics. 2021;13:1-13.
Klein Kranenbarg RA, Vali AH, IJzermans JN, et al. High performance methylated DNA markers for detection of colon adenocarcinoma. Clin Epigenetics. 2021;13:1-15.
Wojdacz TK, Dobrovic A. Methylation-sensitive high resolution melting (MS-HRM): a new approach for sensitive and high-throughput assessment of methylation. Nucleic Acids Res. 2007;35:e41.
Raji N, Babheidarian P, Houshmand M. Detection of microsatellite instability by high-resolution melting analysis in colorectal cancer. Iran Biomed J. 2022;26:70-76.
Miranda RR, Silva TD, Forones NM. High-resolution melting for detecting KRAS mutations in colorectal cancer. Biomed Rep. 2019;11:269-273.
Fu Y, Qi L, Guo W, et al. A qualitative transcriptional signature for predicting microsatellite instability status of right-sided colon cancer. BMC Genomics. 2019;20:1-9.
Tian T, Bi H, Zhang D, et al. Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk. Cancer Med. 2021;10:4964-4976.
Uhan S, Zidar N, Tomažič A, Hauptman N. Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer. Epigenomics. 2020;12:1677-1688.
Gries J, Schumacher D, Arand J, et al. Bi-PROF: bisulfite profiling of target regions using 454 GS FLX titanium technology. Epigenetics. 2013;8:765-771.
Pu W, Qian F, Liu J, et al. Targeted bisulfite sequencing reveals DNA methylation changes in zinc finger family genes associated with KRAS mutated colorectal cancer. Front Cell Dev Biol. 2021;9:3051.
Grunau C, Clark S, Rosenthal A. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res. 2001;29:e65.
Tierling S, Schmitt B, Walter J. Comprehensive evaluation of commercial bisulfite-based DNA methylation kits and development of an alternative protocol with improved conversion performance. Genet Epigenet. 2018;10:1179237X18766097.
García-Giménez JL, Seco-Cervera M, Tollefsbol TO, et al. Epigenetic biomarkers: current strategies and future challenges for their use in the clinical laboratory. Crit Rev Clin Lab Sci. 2017;54:529-550.
https://www.fda.gov/Drugs/InformationOnDrugs/ApprovedDrugs/ucm558048.htm.
فهرسة مساهمة: Keywords: DNA methylation; biomarker; colorectal cancer; diagnosis; epigenetics; precision medicine
المشرفين على المادة: 0 (Biomarkers, Tumor)
تواريخ الأحداث: Date Created: 20220622 Date Completed: 20221021 Latest Revision: 20221108
رمز التحديث: 20240628
DOI: 10.1002/ijc.34186
PMID: 35730647
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-0215
DOI:10.1002/ijc.34186