A genome-wide view of microsatellite instability: Old stories of cancer mutations revisited with new sequencing technologies

Cancer Research

Volumn 74, Issue 22, 2014, Pages 6377-6382

  Kim, Tae Min ^a   Park, Peter J ^b  

^a The Catholic University of Korea   (South Korea)

^b Harvard Medical School Center for Biomedical Informatics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

CANCER GENETICS; CANCER GENOME; CANCER GENOME ATLAS PROJECT; CHROMATIN STRUCTURE; COLORECTAL CANCER; COPY NUMBER VARIATION; ENDOMETRIUM CANCER; EXOME; GENE MUTATION; GENETIC PREDISPOSITION; GENOMICS; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; POINT MUTATION; REVIEW; SOMATIC MUTATION; GENETICS; MOLECULAR EVOLUTION; MUTATION; NEOPLASM; PROCEDURES;

EVOLUTION, MOLECULAR; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MICROSATELLITE INSTABILITY; MUTATION; NEOPLASMS;

EID: 84918819803     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-14-1225     Document Type: Review

References (30)

1. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993;260:812-16.
2. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993;363:558-61.
3. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993;260:816-9.
4. Hemminki A, Peltomaki P, Mecklin JP, Jarvinen H, Salovaara R, Nystrom-Lahti M, et al. Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet 1994;8:405-10.
5. + tumor cells Cell 1993;75:1227-36.
6. 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.
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.
8. Thibodeau SN, French AJ, Roche PC, Cunningham JM, Tester DJ, Lindor NM, et al. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes Cancer Res 1996;56:4836-40.
9. Ribic CM, Sargent DJ, Moore MJ, Thibodeau SN, French AJ, Goldberg RM, et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003;349:247-57.
10. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999;116:1453-6.
11. Kim TM, Laird PW, Park PJ. The landscape of microsatellite instability in colorectal and endometrial cancer genomes. Cell 2013;155: 858-68.
12. Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, Shen H, et al. Integrated genomic characterization of endometrial carcinoma. Nature 2013;497:67-73.
13. Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487:330-7.
14. Hegan DC, Narayanan L, Jirik FR, Edelmann W, Liskay RM, Glazer PM. Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3, and Msh6. Carcinogenesis 2006;27:2402-8.
15. Peltomaki P. Lynch syndrome genes. Fam Cancer 2005;4:227-32.
16. Cawkwell L, Li D, Lewis FA, Martin I, Dixon MF, Quirke P. Microsatellite instability in colorectal cancer: improved assessment using fluorescent polymerase chain reaction. Gastroenterology 1995;109:465-71.
17. Alhopuro P, Sammalkorpi H, Niittymaki I, Bistrom M, Raitila A, Saharinen J, et al. Candidate driver genes in microsatellite-unstable colorectal cancer. Int J Cancer 2012;130:1558-66.
18. Mori Y, Yin J, Rashid A, Leggett BA, Young J, Simms L, et al. Instabilotyping: comprehensive identification of frameshift mutations caused by coding region microsatellite instability. Cancer Res 2001;61:6046-9.
19. Wang L, Tsutsumi S, Kawaguchi T, Nagasaki K, Tatsuno K, Yamamoto S, et al. Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency. Genome Res 2012;22:208-19.
20. Yoon K, Lee S, Han TS, Moon SY, Yun SM, Kong SH, et al. Comprehensive genome- and transcriptome-wide analyses of mutations associated with microsatellite instability in Korean gastric cancers. Genome Res 2013;23:1109-17.
21. Dohm JC, Lottaz C, Borodina T, Himmelbauer H. Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res 2008;36:e105.
22. Markowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, et al. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 1995;268:1336-8.
23. 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 2002;62:2447-54.
24. Kuismanen SA, Moisio AL, Schweizer P, Truninger K, Salovaara R, Arola J, et al. Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. Am J Pathol 2002;160:1953-8.
25. Chang YF, Imam JS, Wilkinson MF. The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 2007;76:51-74.
26. Tomlinson I, Halford S, Aaltonen LA, Hawkins N, Ward R. Does MSI-low exist? J Pathol 2002;197:6-13.
27. Laiho P, Launonen V, Lahermo P, Esteller M, Guo M, Herman JG, et al. Low-level microsatellite instability in most colorectal carcinomas. Cancer Res 2002;62:1166-70.
28. Halford S, Sasieni P, Rowan A, Wasan H, Bodmer W, Talbot I, et al. Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait. Cancer Res 2002;62:53-7.
29. Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013;45:136-44.
30. Tsao JL, Yatabe Y, Salovaara R, Jarvinen HJ, Mecklin JP, Aaltonen LA, et al. Genetic reconstruction of individual colorectal tumor histories. Proc Natl Acad Sci U S A 2000;97:1236-41.