Microsatellite instability detection by high-resolution melting analysis

Clinical Chemistry

Volumn 56, Issue 11, 2010, Pages 1750-1757

  Janavicius, Ramunas ^a   Matiukaite, Dovile ^a   Jakubauskas, Arturas ^a   Griskevicius, Laimonas ^a  

^a VILNIUS UNIVERSITY   (Lithuania)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; GENE AMPLIFICATION; GENE MUTATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MICROSATELLITE MARKER; SENSITIVITY AND SPECIFICITY; COLORECTAL TUMOR; GENETIC MARKER; GENETICS; METHODOLOGY; POLYMERASE CHAIN REACTION; TRANSITION TEMPERATURE;

FIXATIVE; FORMALDEHYDE; PARAFFIN;

COLORECTAL NEOPLASMS; FIXATIVES; FORMALDEHYDE; GENETIC MARKERS; HUMANS; MICROSATELLITE INSTABILITY; PARAFFIN EMBEDDING; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; TRANSITION TEMPERATURE;

EID: 78149486987     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2010.150680     Document Type: Article

References (40)

1. Zhang L. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome, part II: the utility of microsatellite instability testing. J Mol Diagn 2008;10:301-7. (Pubitemid 352019114)
2. Walther A, Johnstone E, Swanton C, Midgley R, Tomlinson I, Kerr D. Genetic prognostic and predictive markers in colorectal cancer. Nat Rev Cancer 2009;9:489-99.
3. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005;23:609-18. (Pubitemid 46224239)
4. Hamelin R, Chalastanis A, Colas C, El Bchiri J, Mercier D, Schreurs AS, et al. Clinical and molecular consequences of microsatellite instability in human cancers. Bull Cancer 2008;95:121-32. [French] (Pubitemid 351262491)
5. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, et al. A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57. (Pubitemid 28521189)
6. Deschoolmeester V, Baay M, Wuyts W, Van Marck E, Van Damme N, Vermeulen P, et al. Detection of microsatellite instability in colorectal cancer using an alternative multiplex assay of quasi-monomorphic mononucleotide markers. J Mol Diagn 2008;10:154-9. (Pubitemid 351436269)
7. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-8. (Pubitemid 38256271)
8. Findeisen P, Kloor M, Merx S, Sutter C, Woerner SM, Dostmann N, et al. T25 repeat in the 3′ untranslated region of the CASP2 gene: a sensitive and specific marker for microsatellite instability in colorectal cancer. Cancer Res 2005;65:8072-8. (Pubitemid 41330567)
9. Ebinger M, Sotlar K, Weber A, Bock CT, Bultmann BD, Kandolf R. Simplified detection of microsatellite instability in colorectal cancer without the need for corresponding germline DNA analysis. J Clin Pathol 2006;59:1114-5. (Pubitemid 44570342)
10. Murphy KM, Zhang S, Geiger T, Hafez MJ, Bacher J, Berg KD, Eshleman JR. Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers. J Mol Diagn 2006;8:305-11. (Pubitemid 44063806)
11. Pedroni M, Roncari B, Maffei S, Losi L, Scarselli A, Di Gregorio C, et al. A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. Dis Markers 2007;23:179-87. (Pubitemid 46868409)
12. Suraweera N, Duval A, Reperant M, Vaury C, Furlan D, Leroy K, et al. Evaluation of tumor microsatellite instability using five quasimono-morphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002;123:1804-11. (Pubitemid 35408304)
13. Bianchi F, Galizia E, Catalani R, Belvederesi L, Ferretti C, Corradini F, Cellerino R. CAT25 is a mononucleotide marker to identify HNPCC patients. J Mol Diagn 2009;11:248-52.
14. Xicola RM, Llor X, Pons E, Castells A, Alenda C, Pinol V, et al. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J Natl Cancer Inst 2007;99:244-52.
15. Goel A, Nagasaka T, Hamelin R, Boland CR. An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers. PLoS One 2010;5:e9393.
16. Hatch SB, Lightfoot HM Jr, Garwacki CP, Moore DT, Calvo BF, Woosley JT, et al. Microsatellite instability testing in colorectal carcinoma: choice of markers affects sensitivity of detection of mismatch repair-deficient tumors. Clin Cancer Res 2005;11:2180-7.
17. Kim IJ, Shin Y, Kang HC, Park JH, Ku JL, Park HW, et al. Robust microsatellite instability (MSI) analysis by denaturing high-performance liquid chromatography (DHPLC). J Hum Genet 2003;48:525-30. (Pubitemid 37442801)
18. Soong R, Anuar D, Liu Y, Eu KW, Han HC, Salto-Tellez M, Iacopetta B. Denaturing high performance liquid chromatography for the detection of microsatellite instability using bethesda and pentaplex marker panels. Diagn Mol Pathol 2008;17:127-33.
19. Chou LS, Lyon E, Wittwer CT. A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol 2005;124:330-8. (Pubitemid 41232919)
20. Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 2003;49:853-60.
21. Vossen RH, Aten E, Roos A, den Dunnen JT. High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat 2009;30:860-6.
22. Herrmann MG, Durtschi JD, Bromley LK, Wittwer CT, Voelkerding KV. Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes. Clin Chem 2006;52:494-503. (Pubitemid 43306475)
23. Montgomery J, Wittwer CT, Palais R, Zhou L. Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis. Nat Protoc 2007;2:59-66. (Pubitemid 47040069)
24. van der Stoep N, van Paridon CD, Janssens T, Krenkova P, Stambergova A, Macek M, et al. Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat 2009;30:899-909.
25. Jakubauskas A, Griskevicius L. KRas and BRaf mutational status analysis from formalin-fixed, paraffin-embedded tissues using multiplex polymerase chain reaction-based assay. Arch Pathol Lab Med 2010;134:620-4.
26. Markham NR, Zuker M. DINAMelt web server for nucleic acid melting prediction. Nucleic Acids Res 2005;33:W577-81. (Pubitemid 44529988)
27. Hegde MR, Roa BB. Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC). Curr Protoc Hum Genet 2009;Chapter 10:Unit 10.12.
28. Loukola A, Eklin K, Laiho P, Salovaara R, Kristo P, Jarvinen H, et al. Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res 2001;61:4545-9. (Pubitemid 32685787)
29. Samowitz WS, Slattery ML, Potter JD, Leppert MF. BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms. Am J Pathol 1999;154:1637-41.
30. Erali M, Wittwer CT. High resolution melting analysis for gene scanning. Methods 2010;50:250-61.
31. De Leeneer K, Coene I, Poppe B, De Paepe A, Claes K. Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms. Clin Chem 2008;54:982-9. (Pubitemid 351793404)
32. Laurie AD, Smith MP, George PM. Detection of factor VIII gene mutations by high-resolution melting analysis. Clin Chem 2007;53:2211-4.
33. Montgomery JL, Sanford LN, Wittwer CT. High-resolution DNA melting analysis in clinical research and diagnostics. Expert Rev Mol Diagn 2010;10:219-40.
34. Bastien R, Lewis TB, Hawkes JE, Quackenbush JF, Robbins TC, Palazzo J, et al. High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling. Hum Mutat 2008;29:757-64. (Pubitemid 351614601)
35. Taylor CF. Mutation scanning using high-resolution melting. Biochem Soc Trans 2009;37:433-7.
36. Noguchi M, Furuya S, Takeuchi T, Hirohashi S. Modified formalin and methanol fixation methods for molecular biological and morphological analyses. Pathol Int 1997;47:685-91. (Pubitemid 27460757)
37. Rouleau E, Lefol C, Bourdon V, Coulet F, Noguchi T, Soubrier F, et al. Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome. Hum Mutat 2009;30:867-75.
38. Dietmaier W, Hofstadter F. Detection of microsatellite instability by real time PCR and hybridization probe melting point analysis. Lab Invest 2001;81:1453-6. (Pubitemid 32980167)
39. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008;26:5783-8.
40. Sargent D, Marsoni S, Thibodeau S, Labianca R, Hamilton S, Torri V, et al. Confirmation of deficient mismatch repair (dMMR) as a predictive marker for lack of benefit from 5-FU based chemotherapy in stage II and III colon cancer (CC): a pooled molecular reanalysis of randomized chemotherapy trials. J Clin Oncol 2008;3219-26.