Microsatellite instability in colorectal cancer—the stable evidence (original) (raw)
Aaltonen, L. A. et al. Clues to the pathogenesis of familial colorectal cancer. Science260, 812–816 (1993). CASPubMed Google Scholar
Ionov, Y., Peinado, M. A., Malkhosyan, S., Shibata, D. & Perucho, M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature363, 558–561 (1993). ArticleCASPubMed Google Scholar
Thibodeau, S. N., Bren, G. & Schaid, D. Microsatellite instability in cancer of the proximal colon. Science260, 816–819 (1993). ArticleCASPubMed Google Scholar
Aaltonen, L. A. et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N. Engl. J. Med.338, 1481–1487 (1998). CASPubMed Google Scholar
Hampel, H. et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N. Engl. J. Med.352, 1851–1860 (2005). CASPubMed Google Scholar
Hendriks, Y. M. et al. Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J. Clin.56, 213–225 (2006). PubMed Google Scholar
Jiricny, J. The multifaceted mismatch-repair system. Nat. Rev. Mol. Cell Biol.7, 335–346 (2006). CASPubMed Google Scholar
Hoeijmakers, J. H. Genome maintenance mechanisms for preventing cancer. Nature411, 366–374 (2001). CASPubMed Google Scholar
Boland, C. R. 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). CASPubMed Google Scholar
Pal, T., Permuth-Wey, J., Kumar, A. & Sellers, T. A. Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology. Clin. Cancer Res.14, 6847–6854 (2008). CASPubMedPubMed Central Google Scholar
Vogelstein, B. & Kinzler, K. W. in The Genetic Basis of Human Cancer (McGraw-Hill Medical, New York, 2002). Google Scholar
Salovaara, R. et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J. Clin. Oncol.18, 2193–2200 (2000). CASPubMed Google Scholar
Ligtenberg, M. J. et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat. Genet.41, 112–117 (2009). CASPubMed Google Scholar
Chen, S. et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA296, 1479–1487 (2006). CASPubMedPubMed Central Google Scholar
Stoffel, E. et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology137, 1621–1627 (2009). PubMed Google Scholar
Herman, J. G. et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc. Natl Acad. Sci. USA95, 6870–6875 (1998). CASPubMedPubMed Central Google Scholar
Gryfe, R. et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N. Engl. J. Med.342, 69–77 (2000). CASPubMed Google Scholar
Piñol, V. et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA293, 1986–1994 (2005). PubMed Google Scholar
Roth, A. D. et al. Stage-specific prognostic value of molecular markers in colon cancer: Results of the translational study on the PETACC 3-EORTC 40993-SAKK 60–00 trial [abstract]. J. Clin. Oncol.27, a4002 (2009). Google Scholar
Koopman, M. et al. Deficient mismatch repair system in patients with sporadic advanced colorectal cancer. Br. J. Cancer100, 266–273 (2009). CASPubMedPubMed Central Google Scholar
Ashktorab, H. et al. High incidence of microsatellite instability in colorectal cancer from African Americans. Clin. Cancer Res.9, 1112–1117 (2003). CASPubMed Google Scholar
Kumar, K. et al. Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. Clin. Cancer Res.15, 1155–1161 (2009). CASPubMedPubMed Central Google Scholar
Soliman, A. S. et al. Contrasting molecular pathology of colorectal carcinoma in Egyptian and Western patients. Br. J. Cancer85, 1037–1046 (2001). CASPubMedPubMed Central Google Scholar
Gruber, S. B. New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing. Gastroenterology130, 577–587 (2006). CASPubMed Google Scholar
Laghi, L., Bianchi, P. & Malesci, A. Differences and evolution of the methods for the assessment of microsatellite instability. Oncogene27, 6313–6321 (2008). CASPubMed Google Scholar
Umar, A. et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J. Natl Cancer Inst.96, 261–268 (2004). CASPubMed Google Scholar
Vogelstein, B. et al. Allelotype of colorectal carcinomas. Science244, 207–211 (1989). CASPubMed Google Scholar
Fearon, E. R. & Vogelstein, B. A genetic model for colorectal tumorigenesis. Cell61, 759–767 (1990). CASPubMed Google Scholar
Duval, A. & Hamelin, R. Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability. Cancer Res.62, 2447–2454 (2002). CASPubMed Google Scholar
Davies, H. et al. Mutations of the BRAF gene in human cancer. Nature417, 949–954 (2002). CASPubMed Google Scholar
Rajagopalan, H. et al. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature418, 934 (2002). CASPubMed Google Scholar
Oliveira, C. et al. BRAF mutations characterize colon but not gastric cancer with mismatch repair deficiency. Oncogene22, 9192–9196 (2003). CASPubMed Google Scholar
Domingo, E. et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J. Med. Genet.41, 664–668 (2004). CASPubMedPubMed Central Google Scholar
Bessa, X. et al. A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening. Clin. Gastroenterol. Hepatol.6, 206–214 (2008). CASPubMed Google Scholar
Deng, G. et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin. Cancer Res.10, 191–195 (2004). CASPubMed Google Scholar
McGivern, A. et al. Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer. Fam. Cancer3, 101–107 (2004). CASPubMed Google Scholar
Wang, L. et al. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res.63, 5209–5212 (2003). CASPubMed Google Scholar
Andreyev, H. J., Norman, A. R., Cunningham, D., Oates, J. R. & Clarke, P. A. Kirsten ras mutations in patients with colorectal cancer: the multicenter “RASCAL” study. J. Natl Cancer Inst.90, 675–684 (1998). CASPubMed Google Scholar
Vivanco, I. & Sawyers, C. L. The phosphatidylinositol 3-kinase AKT pathway in human cancer. Nat. Rev. Cancer2, 489–501 (2002). CASPubMed Google Scholar
Samuels, Y. et al. High frequency of mutations of the PIK3CA gene in human cancers. Science304, 554 (2004). CASPubMed Google Scholar
Barault, L. et al. Mutations in the RAS-MAPK, PI(3)K (phosphatidylinositol-3-OH kinase) signaling network correlate with poor survival in a population-based series of colon cancers. Int. J. Cancer122, 2255–2259 (2008). Google Scholar
Benvenuti, S. et al. PIK3CA cancer mutations display gender and tissue specificity patterns. Hum. Mutat.29, 284–288 (2008). CASPubMed Google Scholar
Frattini, M. et al. Phosphatase protein homologue to tensin expression and phosphatidylinositol-3 phosphate kinase mutations in colorectal cancer. Cancer Res.65, 11227 (2005). CASPubMed Google Scholar
Kato, S. et al. PIK3CA mutation is predictive of poor survival in patients with colorectal cancer. Int. J. Cancer121, 1771–1778 (2007). CASPubMed Google Scholar
Sartore-Bianchi, A. et al. PIK3CA mutations in colorectal cancer are associated with clinical resistance to EGFR-targeted monoclonal antibodies. Cancer Res.69, 1851–1857 (2009). CASPubMed Google Scholar
Ogino, S. et al. PIK3CA mutation is associated with poor prognosis among patients with curatively resected colon cancer. J. Clin. Oncol.27, 1477–1484 (2009). CASPubMedPubMed Central Google Scholar
Abubaker, J. et al. Clinicopathological analysis of colorectal cancers with PIK3CA mutations in Middle Eastern population. Oncogene27, 3539–3545 (2008). CASPubMed Google Scholar
Parsons, D. W. et al. Colorectal cancer: mutations in a signalling pathway. Nature436, 792 (2005). CASPubMed Google Scholar
Goel, A. et al. Frequent inactivation of PTEN by promoter hypermethylation in microsatellite instability-high sporadic colorectal cancers. Cancer Res.64, 3014–3021 (2004). CASPubMed Google Scholar
Banerjea, A. et al. Colorectal cancers with microsatellite instability display mRNA expression signatures characteristic of increased immunogenicity. Mol. Cancer3, 21 (2004). PubMedPubMed Central Google Scholar
Koinuma, K. et al. Mutations of BRAF are associated with extensive hMLH1 promoter methylation in sporadic colorectal carcinomas. Int. J. Cancer108, 237–242 (2004). CASPubMed Google Scholar
Vilar, E. et al. Gene expression patterns in mismatch repair-deficient colorectal cancers highlight the potential therapeutic role of inhibitors of the phosphatidylinositol 3-kinase-AKT-mammalian target of rapamycin pathway. Clin. Cancer Res.15, 2829–2839 (2009). CASPubMedPubMed Central Google Scholar
Watanabe, T. et al. Distal colorectal cancers with microsatellite instability (MSI) display distinct gene expression profiles that are different from proximal MSI cancers. Cancer Res.66, 9804–9808 (2006). CASPubMed Google Scholar
Kruhøffer, M. et al. Gene expression signatures for colorectal cancer microsatellite status and HNPCC. Br. J. Cancer92, 2240–2248 (2005). PubMedPubMed Central Google Scholar
Giacomini, C. P. et al. A gene expression signature of genetic instability in colon cancer. Cancer Res.65, 9200–9205 (2005). CASPubMed Google Scholar
Michiels, S., Koscielny, S. & Hill, C. Interpretation of microarray data in cancer. Br. J. Cancer96, 1155–1158 (2007). CASPubMedPubMed Central Google Scholar
Cardoso, F. et al. Clinical application of the 70-gene profile: the MINDACT trial. J. Clin. Oncol.26, 729–735 (2008). PubMed Google Scholar
Sparano, J. A. & Paik, S. Development of the 21-gene assay and its application in clinical practice and clinical trials. J. Clin. Oncol.26, 721–728 (2008). PubMed Google Scholar
Greenson, J. K. et al. Phenotype of microsatellite unstable colorectal carcinomas: Well-differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instability. Am. J. Surg. Pathol.27, 563–570 (2003). PubMed Google Scholar
Jorissen, R. N. et al. DNA copy-number alterations underlie gene expression differences between microsatellite stable and unstable colorectal cancers. Clin. Cancer Res.14, 8061–8069 (2008). CASPubMedPubMed Central Google Scholar
Poynter, J. N. et al. Associations between smoking, alcohol consumption, and colorectal cancer, overall and by tumor microsatellite instability status. Cancer Epidemiol. Biomarkers Prev.18, 2745–2750 (2009). CASPubMedPubMed Central Google Scholar
Ribic, C. M. et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N. Engl. J. Med.349, 247–257 (2003). CASPubMedPubMed Central Google Scholar
Watanabe, T. et al. Molecular predictors of survival after adjuvant chemotherapy for colon cancer. N. Engl. J. Med.344, 1196–1206 (2001). CASPubMedPubMed Central Google Scholar
Popat, S., Hubner, R. & Houlston, R. S. Systematic review of microsatellite instability and colorectal cancer prognosis. J. Clin. Oncol.23, 609–618 (2005). CASPubMed Google Scholar
Carethers, J. M. et al. Mismatch repair proficiency and in vitro response to 5-fluorouracil. Gastroenterology117, 123–131 (1999). CASPubMed Google Scholar
Elsaleh, H. et al. Association of tumour site and sex with survival benefit from adjuvant chemotherapy in colorectal cancer. Lancet355, 1745–1750 (2000). CASPubMed Google Scholar
Hemminki, A., Mecklin, J. P., Järvinen, H., Aaltonen, L. A. & Joensuu, H. Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy. Gastroenterology119, 921–928 (2000). CASPubMed Google Scholar
Liang, J. T. et al. High-frequency microsatellite instability predicts better chemosensitivity to high-dose 5-fluorouracil plus leucovorin chemotherapy for stage IV sporadic colorectal cancer after palliative bowel resection. Int. J. Cancer101, 519–525 (2002). CASPubMed Google Scholar
Benatti, P. et al. Microsatellite instability and colorectal cancer prognosis. Clin Cancer Res.11, 8332–8340 (2005). CASPubMed Google Scholar
Jover, R. et al. Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer. Gut55, 848–855 (2006). CASPubMedPubMed Central Google Scholar
Kim, G. P. et al. Prognostic and predictive roles of high-degree microsatellite instability in colon cancer: a National Cancer Institute-National Surgical Adjuvant Breast and Bowel Project Collaborative Study. J. Clin. Oncol.25, 767–772 (2007). CASPubMed Google Scholar
Lamberti, C. et al. Microsatellite instability did not predict individual survival of unselected patients with colorectal cancer. Int. J. Colorectal Dis.22, 145–152 (2007). CASPubMed Google Scholar
Sargent, D. J. 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 [abstract]. J. Clin. Oncol.26, a4008 (2008). Google Scholar
Des Guetz, G. et al. Does microsatellite instability predict the efficacy of adjuvant chemotherapy in colorectal cancer? A systematic review with meta-analysis. Eur. J. Cancer45, 1890–1896 (2009). CASPubMed Google Scholar
Baddi, L. & Benson, A. III. Adjuvant therapy in stage II colon cancer: current approaches. Oncologist10, 325–331 (2005). PubMed Google Scholar
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.9, 2898–2903 (2003). CASPubMed Google Scholar
Nagasaka, T. et al. Hypermethylation of O6-methylguanine-DNA methyltransferase promoter may predict nonrecurrence after chemotherapy in colorectal cancer cases. Clin. Cancer Res.9, 5306–5312 (2003). CASPubMed Google Scholar
Vilar, E. et al. Microsatellite instability due to hMLH1 deficiency is associated with increased cytotoxicity to irinotecan in human colorectal cancer cell lines. Br. J. Cancer99, 1607–1612 (2008). CASPubMedPubMed Central Google Scholar
Magrini, R. et al. Cellular effects of CPT-11 on colon carcinoma cells: dependence on p53 and hMLH1 status. Int. J. Cancer101, 23–31 (2002). CASPubMed Google Scholar
Jacob, S., Aguado, M., Fallik, D. & Praz, F. The role of the DNA mismatch repair system in the cytotoxicity of the topoisomerase inhibitors camptothecin and etoposide to human colorectal cancer cells. Cancer Res.61, 6555–6562 (2001). CASPubMed Google Scholar
Rodriguez, R. et al. Thymidine selectively enhances growth suppressive effects of camptothecin/irinotecan in MSI+ cells and tumors containing a mutation of MRE11. Clin. Cancer Res.14, 5476–5483 (2008). CASPubMed Google Scholar
Pommier, Y. Topoisomerase I inhibitors: camptothecins and beyond. Nat. Rev. Cancer6, 789–802 (2006). CASPubMed Google Scholar
Giannini, G. et al. Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability. Oncogene23, 2640–2647 (2004). CASPubMed Google Scholar
Miquel, C. et al. Frequent alteration of DNA damage signalling and repair pathways in human colorectal cancers with microsatellite instability. Oncogene26, 5919–5926 (2007). CASPubMed Google Scholar
Fallik, D. et al. Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer. Cancer Res.63, 5738–5744 (2003). CASPubMed Google Scholar
Bertagnolli, M. M. et al. Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and Leukemia Group B Protocol 89803. J. Clin. Oncol.27, 1814–1821 (2009). CASPubMedPubMed Central Google Scholar
Tejpar, S. et al. Microsatellite instability (MSI) in stage II and III colon cancer treated with 5FU-LV or 5FU-LV and irinotecan (PETACC 3-EORTC 40993-SAKK 60/00 trial) [abstract]. J. Clin. Oncol.27, a4001 (2009). Google Scholar
Koopman, M. et al. Sequential versus combination chemotherpay with capecitabine, irinotecan, and oxaliplatin in advanced colorectal cancer (CAIRO): a phase III randomised controlled trial. Lancet370, 135–142 (2007). CASPubMed Google Scholar
Des Guetz, G. et al. Microsatellite instability does not predict the efficacy of chemotherapy in metastatic colorectal cancer. A systematic review and meta-analysis. Anticancer Res.29, 1615–1620 (2009). CASPubMed Google Scholar
Swanton, C. & Caldas, C. Molecular classification of solid tumours: towards pathway-driven therapeutics. Br. J. Cancer100, 1517–1522 (2009). CASPubMedPubMed Central Google Scholar
Engstrom, P. F. et al. NCCN Clinical Practice Guideline in Oncology: colon cancer. J. Natl Compr. Canc. Netw.7, 778–831 (2009). PubMed Google Scholar
Vilar, E. et al. Preclinical testing of the PARP inhibitor ABT-888 in microsatellite instable colorectal cancer [abstract]. J. Clin. Oncol.27, a11028 (2009). Google Scholar
Farmer, H. et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature434, 917–921 (2005). CASPubMed Google Scholar
Ropero, S. et al. A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition. Nat. Genet.38, 566–569 (2006). Google Scholar