Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours

British Journal of Cancer

Volumn 108, Issue 10, 2013, Pages 2079-2087

  Pagin, A ^a   Zerimech, F ^a   Leclerc, J ^a,b,c   Wacrenier, A ^a   Lejeune, S ^a   Descarpentries, C ^d   Escande, F ^a   Porchet, N ^a,b,c   Buisine, M P ^a,b,c  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b JEAN PIERRE AUBERT RESEARCH CENTER   (France)

^c UNIV LILLE   (France)

^d CENTRE OSCAR LAMBRET   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRAIN CANCER; COLORECTAL ADENOMA; COLORECTAL CANCER; DINUCLEOTIDE REPEAT; DNA STRUCTURE; ENDOMETRIUM CANCER; GENE MUTATION; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; MICROSATELLITE INSTABILITY; MICROSATELLITE MARKER; MISMATCH REPAIR; MONONUCLEOTIDE REPEAT; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECTUM ADENOMA; SENSITIVITY AND SPECIFICITY; SKIN CANCER;

ADULT; CASE-CONTROL STUDIES; DNA MISMATCH REPAIR; DNA REPAIR-DEFICIENCY DISORDERS; EARLY DETECTION OF CANCER; FEMALE; FLUORESCENCE; GENES, NEOPLASM; HUMANS; MICROSATELLITE INSTABILITY; MICROSATELLITE REPEATS; MIDDLE AGED; NEOPLASMS; POLYMERASE CHAIN REACTION; TUMOR MARKERS, BIOLOGICAL;

EID: 84878612713     PISSN: 00070920     EISSN: 15321827     Source Type: Journal    
DOI: 10.1038/bjc.2013.213     Document Type: Article

References (41)

1. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, Powell SM, Jen J, Hamilton SR, Petersen GM, Kinzler KW, Vogelstein B, de la Chapelle A (1993) Clues to the pathogenesis of familial colorectal cancer. Science 260(5109): 812-816.
2. Acharya S, Wilson T, Gradia S, Kane MF, Guerrette S, Marsischky GT, Kolodner R, Fishel R (1996) hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc Natl Acad Sci USA 93(24): 13629-13634.
3. Aissi-Ben Moussa S, Moussa A, Lovecchio T, Kourda N, Najjar T, Ben Jilani S, El Gaaied A, Porchet N, Manai M, Buisine MP (2009) Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination. Fam Cancer 8(2): 119-126.
4. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S (1998) 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 58(22): 5248-5257.
5. Bonadona V, Bonaiti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Nogues C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frebourg T, Sobol H, Lasset C, Bonaiti-Pellie C (2011) Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 305(22): 2304-2310.
6. Buhard O, Cattaneo F, Wong YF, Yim SF, Friedman E, Flejou JF, Duval A, Hamelin R (2006) Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors. J Clin Oncol 24(2): 241-251.
7. Buhard O, Suraweera N, Lectard A, Duval A, Hamelin R (2004) Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis. Dis Markers 20(4-5): 251-257.
8. Crepin M, Dieu MC, Lejeune S, Escande F, Boidin D, Porchet N, Morin G, Manouvrier S, Mathieu M, Buisine MP (2011) Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Hum Mutat 33(1): 180-188.
9. Drummond JT, Li GM, Longley MJ, Modrich P (1995) Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. Science 268(5219): 1909-1912.
10. Edelmann W, Yang K, Umar A, Heyer J, Lau K, Fan K, Liedtke W, Cohen PE, Kane MF, Lipford JR, Yu N, Crouse GF, Pollard JW, Kunkel T, Lipkin M, Kolodner R, Kucherlapati R (1997) Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell 91(4): 467-477.
11. Ferreira AM, Westers H, Sousa S, Wu Y, Niessen RC, Olderode-Berends M, van der Sluis T, Reuvekamp PT, Seruca R, Kleibeuker JH, Hollema H, Sijmons RH, Hofstra RM (2009) Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients. J Pathol 219(1): 96-102.
12. Giunti L, Cetica V, Ricci U, Giglio S, Sardi I, Paglierani M, Andreucci E, Sanzo M, Forni M, Buccoliero AM, Genitori L, Genuardi M (2009) Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. Eur J Hum Genet 17(7): 919-927.
13. Goel A, Nagasaka T, Hamelin R, Boland CR (2010) An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers. PLoS One 5(2): e9393.
14. Gryfe R, Kim H, Hsieh ET, Aronson MD, Holowaty EJ, Bull SB, Redston M, Gallinger S (2000) Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med 342(2): 69-77.
15. Gylling AH, Nieminen TT, Abdel-Rahman WM, Nuorva K, Juhola M, Joensuu EI, Jarvinen HJ, Mecklin JP, Aarnio M, Peltomaki PT (2008) Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors. Carcinogenesis 29(7): 1351-1359.
16. Halford S, Sasieni P, Rowan A, Wasan H, Bodmer W, Talbot I, Hawkins N, Ward R, Tomlinson I (2002) Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait. Cancer Res 62(1): 53-57.
17. Halford SE, Sawyer EJ, Lambros MB, Gorman P, Macdonald ND, Talbot IC, Foulkes WD, Gillett CE, Barnes DM, Akslen LA, Lee K, Jacobs IJ, Hanby AM, Ganesan TS, Salvesen HB, Bodmer WF, Tomlinson IP, Roylance RR (2003) MSI-low, a real phenomenon which varies in frequency among cancer types. J Pathol 201(3): 389-394.
18. Hartmann A, Zanardo L, Bocker-Edmonston T, Blaszyk H, Dietmaier W, Stoehr R, Cheville JC, Junker K, Wieland W, Knuechel R, Rueschoff J, Hofstaedter F, Fishel R (2002) Frequent microsatellite instability in sporadic tumors of the upper urinary tract. Cancer Res 62(23): 6796-6802.
19. Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F, Sandkuijl L, Moller P, Genuardi M, Van Houwelingen H, Tops C, Van Puijenbroek M, Verkuijlen P, Kenter G, Van Mil A, Meijers-Heijboer H, Tan GB, Breuning MH, Fodde R, Wijnen JT, Brocker-Vriends AH, Vasen H (2004) Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127(1): 17-25.
20. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363(6429): 558-561.
21. Kuismanen SA, Moisio AL, Schweizer P, Truninger K, Salovaara R, Arola J, Butzow R, Jiricny J, Nystrom-Lahti M, Peltomaki P (2002) Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. Am J Pathol 160(6): 1953-1958.
22. Laiho P, Launonen V, Lahermo P, Esteller M, Guo M, Herman JG, Mecklin JP, Jarvinen H, Sistonen P, Kim KM, Shibata D, Houlston RS, Aaltonen LA (2002) Low-level microsatellite instability in most colorectal carcinomas. Cancer Res 62(4): 1166-1170.
23. Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR (2009) Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 76(1): 1-18.
24. Olschwang S, Bona?ti C, Feingold J, Frebourg T, Grandjouan S, Lasset C, Laurent-Puig P, Lecuru F, Millat B, Sobol H, Thomas G, Eisinger F (2004) Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer), hereditary predisposition to colorectal and endometrial adenocarcinomas. Bull Cancer 91(4): 303-315.
25. Palombo F, Gallinari P, Iaccarino I, Lettieri T, Hughes M, D'Arrigo A, Truong O, Hsuan JJ, Jiricny J (1995) GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 268(5219): 1912-1914.
26. Perucho M (1999) Correspondence ref.: C.R. Boland 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., 58: 5248-5257, 1998. Cancer Res 59(1): 249-256.
27. Ribic CM, Sargent DJ, Moore MJ, Thibodeau SN, French AJ, Goldberg RM, Hamilton SR, Laurent-Puig P, Gryfe R, Shepherd LE, Tu D, Redston M, Gallinger S (2003) Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 349(3): 247-257.
28. Salovaara R, Loukola A, Kristo P, Kaariainen H, Ahtola H, Eskelinen M, Harkonen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Jarvinen H, Mecklin JP, Aaltonen LA, de la Chapelle A (2000) Populationbased molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 18(11): 2193-2200.
29. Sargent DJ, Marsoni S, Monges G, Thibodeau SN, Labianca R, Hamilton SR, French AJ, Kabat B, Foster NR, Torri V, Ribic C, Grothey A, Moore M, Zaniboni A, Seitz JF, Sinicrope F, Gallinger S (2010) Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol 28(20): 3219-3226.
30. Suraweera N, Duval A, Reperant M, Vaury C, Furlan D, Leroy K, Seruca R, Iacopetta B, Hamelin R (2002) Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 123(6): 1804-1811.
31. Thibodeau SN, Bren G, Schaid D (1993) Microsatellite instability in cancer of the proximal colon. Science 260(5109): 816-819.
32. Tomlinson I, Halford S, Aaltonen L, Hawkins N, Ward R (2002) Does MSIlow exist? J Pathol 197(1): 6-13.
33. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4): 261-268.
34. Vasen HF, Mecklin JP, Khan PM, Lynch HT (1991) The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34(5): 424-425.
35. Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin JP, Moller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J (2007) Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 44(6): 353-362.
36. Vasen HF, Watson P, Mecklin JP, Lynch HT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116(6): 1453-1456.
37. Wijnen J, de Leeuw W, Vasen H, van der Klift H, Moller P, Stormorken A, Meijers-Heijboer H, Lindhout D, Menko F, Vossen S, Moslein G, Tops C, Brocker-Vriends A, Wu Y, Hofstra R, Sijmons R, Cornelisse C, Morreau H, Fodde R (1999) Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 23(2): 142-144.
38. Wong YF, Cheung TH, Lo KW, Yim SF, Chan LK, Buhard O, Duval A, Chung TK, Hamelin R (2006) Detection of microsatellite instability in endometrial cancer: advantages of a panel of five mononucleotide repeats over the National Cancer Institute panel of markers. Carcinogenesis 27(5): 951-955.
39. Wu Y, Berends MJ, Mensink RG, Kempinga C, Sijmons RH, van Der Zee AG, Hollema H, Kleibeuker JH, Buys CH, Hofstra RM (1999) Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 65(5): 1291-1298.
40. Xicola RM, Llor X, Pons E, Castells A, Alenda C, Pinol V, Andreu M, Castellvi-Bel S, Paya A, Jover R, Bessa X, Giros A, Duque JM, Nicolas-Perez D, Garcia AM, Rigau J, Gassull MA (2007) Performance of different microsatellite marker panels for detection of mismatch repairdeficient colorectal tumors. J Natl Cancer Inst 99(3): 244-252.
41. You JF, Buhard O, Ligtenberg MJ, Kets CM, Niessen RC, Hofstra RM, Wagner A, Dinjens WN, Colas C, Lascols O, Collura A, Flejou JF, Duval A, Hamelin R (2010) Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats. Br J Cancer 103(12): 1840-1845.