A five-marker panel in a multiplex pcr accurately detects microsatellite instability-high colorectal tumors without control DNA

Diagnostic Molecular Pathology

Volumn 21, Issue 3, 2012, Pages 127-133

  Patil, Deepa T ^a   Bronner, Mary P ^b   Portier, Bryce P ^a   Fraser, Cory R ^c   Plesec, Thomas P ^a   Liu, Xiuli ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b ARUP LABORATORIES   (United States)

^c UNIVERSITY OF HAWAII   (United States)

Author keywords

colorectal tumors; mononucleotide markers; MSI

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; BAT 25 GENE; BAT 26 GENE; COLORECTAL CARCINOMA; COLORECTAL TUMOR; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC KIT; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MARKER GENE; MICROSATELLITE INSTABILITY; MONO 27 GENE; MULTIPLEX POLYMERASE CHAIN REACTION; NR 21 GENE; NR 24 GENE; NUCLEOTIDE REPEAT; PRIORITY JOURNAL;

ADENOCARCINOMA; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA, NEOPLASM; GENETIC MARKERS; HUMANS; MICROSATELLITE INSTABILITY; MULTIPLEX POLYMERASE CHAIN REACTION;

EID: 84865713992     PISSN: 10529551     EISSN: 15334066     Source Type: Journal    
DOI: 10.1097/PDM.0b013e3182461cc3     Document Type: Article

References (25)

1. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851-1860.
2. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26:5783-5788.
3. Lynch HT, Krush AJ. Cancer family "G" revisited: 1895-1970. Cancer. 1971;27:1505-1511.
4. Mecklin JP, Jarvinen HJ. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer. 1991;68:1109-1112.
5. Ionov Y, Peinado MA, Malkhosyan S, et al. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature. 1993;363:558-561. (Pubitemid 23186645)
6. Aaltonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science. 1993; 260:812-816. (Pubitemid 23167611)
7. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260:816-819. (Pubitemid 23167612)
8. Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994;368:258-261.
9. Papadopoulos N, Nicolaides NC, Wei YF, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263: 1625-1629. (Pubitemid 24128369)
10. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1993;75:1027-1038. (Pubitemid 24014559)
11. Leach FS, Nicolaides NC, Papadopoulos N, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 1993;75:1215-1225. (Pubitemid 24006117)
12. Guastadisegni C, Colafranceschi M, Ottini L, et al. Microsatellite instability as a marker of prognosis and response to therapy: a metaanalysis of colorectal cancer survival data. Eur J Cancer. 2010;46:2788-2798.
13. Samowitz WS, Curtin K, Ma KN, et al. Microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population level. Cancer Epidemiol Biomarkers Prev. 2001; 10:917-923. (Pubitemid 32844897)
14. Ribic CM, Sargent DJ, Moore MJ, et al. Tumor microsatelliteinstability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med. 2003; 349:247-257. (Pubitemid 36859476)
15. Boland CR, Thibodeau SN, Hamilton SR, 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;58:5248-5257. (Pubitemid 28521189)
16. Wong YF, Cheung TH, Lo KW, et al. Detection of microsatellite instability in endometrial cancer: advantages of a panel of five mononucleotide repeats over the National Cancer Institute panel of markers. Carcinogenesis. 2006;27:951-955.
17. Suraweera N, Duval A, Reperant M, et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology. 2002;123: 1804-1811. (Pubitemid 35408304)
18. Goel A, Nagasaka T, Hamelin R, et al. An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers. PloS One. 2010;5:e9393.
19. Bacher JW, Flanagan LA, Smalley RL, et al. Development of a fluorescent multiplex assay for detection of MSI-High tumors. Dis Markers. 2004;20:237-250. (Pubitemid 40164096)
20. Buhard O, Suraweera N, Lectard A, et al. Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis. Dis Markers. 2004;20:251-257. (Pubitemid 40164097)
21. Buhard O, Cattaneo F, Wong YF, et al. Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors. J Clin Oncol. 2006;24:241-251. (Pubitemid 46622053)
22. Overbeek LI, Ligtenberg MJ, Willems RW, et al. Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting. Am J Surg Pathol. 2008;32:1246-1251.
23. Berg AO, Armstrong K, Botkin J, et al. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009;11:35-41.
24. Pyatt R, Chadwick RB, Johnson CK, et al. Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing. Am J Pathol. 1999;155:349-353. (Pubitemid 29370385)
25. Samowitz WS, Slattery ML, Potter JD, et al. BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms. Am J Pathol. 1999;154:1637-1641. (Pubitemid 29262844)