The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch Syndrome: from bench to bedside

Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348(10):919–932

Acharya S, Wilson T, Gradia S et al (1996) hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc Natl Acad Sci USA 93(24):13629–13634

Gradia S, Subramanian D, Wilson T et al (1999) hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA. Mol Cell 3(2):255–261

Kadyrov FA, Dzantiev L, Constantin N, Modrich P (2006) Endonucleolytic function of MutLalpha in human mismatch repair. Cell 126(2):297–308

Heinen CD, Schmutte C, Fishel R (2002) DNA repair and tumorigenesis: lessons from hereditary cancer syndromes. Cancer Biol Ther 1(5):477–485

Carethers JM, Hawn MT, Chauhan DP et al (1996) Competency in mismatch repair prohibits clonal expansion of cancer cells treated with N-methyl-N’-nitro-N-nitrosoguanidine. J Clin Invest 98(1):199–206

Boland CR, Thibodeau SN, Hamilton SR et al (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

Duval A, Hamelin R (2002) Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability. Cancer Res 62(9):2447–2454

Rampino N, Yamamoto H, Ionov Y et al (1997) Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science 275(5302):967–969

Chang DK, Metzgar D, Wills C, Boland CR (2001) Microsatellites in the eukaryotic DNA mismatch repair genes as modulators of evolutionary mutation rate. Genome Res 11(7):1145–1146

Perucho M (1996) Microsatellite instability: the mutator that mutates the other mutator. Nat Med 2(6):630–631

Koi M, Umar A, Chauhan DP et al (1994) Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-methyl-N′-nitro-N-nitrosoguanidine tolerance in colon tumor cells with homozygous hMLH1 mutation. Cancer Res 54(16):4308–4312

Umar A, Koi M, Risinger JI et al (1997) Correction of hypermutability, N-methyl-N′-nitro-N-nitrosoguanidine resistance, and defective DNA mismatch repair by introducing chromosome 2 into human tumor cells with mutations in MSH2 and MSH6. Cancer Res 57(18):3949–3955

Watanabe Y, Haugen-Strano A, Umar A et al (2000) Complementation of an hMSH2 defect in human colorectal carcinoma cells by human chromosome 2 transfer. Mol Carcinog 29(1):37–49

Arnold CN, Goel A, Boland CR (2003) Role of hMLH1 promoter hypermethylation in drug resistance to 5-fluorouracil in colorectal cancer cell lines. Int J Cancer 106(1):66–73

Chang DK, Ricciardiello L, Goel A, Chang CL, Boland CR (2000) Steady-state regulation of the human DNA mismatch repair system. J Biol Chem 275(24):18424–18431

Kolodner RD, Tytell JD, Schmeits JL et al (1999) Germ-line msh6 mutations in colorectal cancer families. Cancer Res 59(20):5068–5074

Miyaki M, Konishi M, Tanaka K et al (1997) Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17(3):271–272

Kariola R, Hampel H, Frankel WL, Raevaara TE, de la Chapelle A, Nystrom-Lahti M (2004) MSH6 missense mutations are often associated with no or low cancer susceptibility. Br J Cancer 91(7):1287–1292

Hendriks YM, Wagner A, Morreau H et al (2004) Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127(1):17–25

Akiyama Y, Tsubouchi N, Yuasa Y (1997) Frequent somatic mutations of hMSH3 with reference to microsatellite instability in hereditary nonpolyposis colorectal cancers. Biochem Biophys Res Commun 236(2):248–252

de Jong AE, van Puijenbroek M, Hendriks Y et al (2004) Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 10(3):972–980

Truninger K, Menigatti M, Luz J et al (2005) Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology 128(5):1160–1171

Hendriks YM, Jagmohan-Changur S, van der Klift HM et al (2006) Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology 130(2):312–322

Hienonen T, Laiho P, Salovaara R et al (2003) Little evidence for involvement of MLH3 in colorectal cancer predisposition. Int J Cancer 106(2):292–296

Wijnen J, van der Klift H, Vasen H et al (1998) MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 20(4):326–328

Lipkin SM, Rozek LS, Rennert G et al (2004) The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nat Genet 36(7):694–699

Chang DK, Ricciardiello L, Goel A, Chang CL, Boland CR (2000) Steady-state regulation of the human DNA mismatch repair system. J Biol Chem 275(37):29178

Chang CL, Marra G, Chauhan DP et al (2002) Oxidative stress inactivates the human DNA mismatch repair system. Am J Physiol Cell Physiol 283(1):C148–C154

Koshiji M, To KK, Hammer S et al (2005) HIF-1alpha induces genetic instability by transcriptionally downregulating MutSalpha expression. Mol Cell 17(6):793–803

Boland CR, Fishel R (2005) Lynch syndrome: form, function, proteins, and basketball. Gastroenterology 129(2):751–755

Raevaara TE, Korhonen MK, Lohi H et al (2005) Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129(2):537–549

Kane MF, Loda M, Gaida GM et al (1997) Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 57(5):808–811

Chadwick RB, Meek JE, Prior TW, Peltomaki P, de la Chapelle A (2000) Polymorphisms in a pseudogene highly homologous to PMS2. Hum Mutat 16(6):530

Gryfe R, Kim H, Hsieh ET et al (2000) Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med 342(2):69–77

Hawn MT, Umar A, Carethers JM et al (1995) Evidence for a connection between the mismatch repair system and the G2 cell cycle checkpoint. Cancer Res 55(17):3721–3725

Carethers JM, Smith EJ, Behling CA et al (2004) Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer. Gastroenterology 126(2):394–401

Aebi S, Kurdi-Haidar B, Gordon R et al (1996) Loss of DNA mismatch repair in acquired resistance to cisplatin. Cancer Res 56(13):3087–3090

Carethers JM, Chauhan DP, Fink D et al (1999) Mismatch repair proficiency and in vitro response to 5-fluorouracil. Gastroenterology 117(1):123–131

Ribic CM, Sargent DJ, Moore MJ et al (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

Benatti P, Gafa R, Barana D et al (2005) Microsatellite instability and colorectal cancer prognosis. Clin Cancer Res 11(23):8332–8340

Jover R, Zapater P, Castells A et al (2006) Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer. Gut 55(6):848–855

Jascur T, Boland CR (2006) Structure and function of the components of the human DNA mismatch repair system. Int J Cancer 119(9):2030–2035

Fishel R (2001) The selection for mismatch repair defects in hereditary nonpolyposis colorectal cancer: revising the mutator hypothesis. Cancer Res 61(20):7369–7374