MLH1 -silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes

Journal of Pathology

Volumn 229, Issue 1, 2013, Pages 99-110

  Donehower, Lawrence A ^a   Creighton, Chad J ^a   Schultz, Nikolaus ^b   Shinbrot, Eve ^a   Chang, Kyle ^a   Gunaratne, Preethi H ^a,c   Muzny, Donna ^a   Sander, Chris ^b   Hamilton, Stanley R ^d   Gibbs, Richard A ^a   Wheeler, David ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c University of Houston   (United States)

^d UNIVERSITY OF TEXAS   (United States)

Author keywords

APC; BRAF; Colorectal cancer; KRAS; microsatellite instability; MLH1; mutation rate; WNT signalling

Indexed keywords

APC PROTEIN; B RAF KINASE; K RAS PROTEIN; MESSENGER RNA; MICRORNA; PROTEIN MLH1; TRANSFORMING GROWTH FACTOR BETA;

ARTICLE; COLORECTAL CARCINOMA; CONTROLLED STUDY; EXOME; GENE EXPRESSION; GENE MUTATION; GENE SILENCING; GENOTYPE; HUMAN; HUMAN TISSUE; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL; SILENCER ELEMENT; WNT SIGNALING PATHWAY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOMATOUS POLYPOSIS COLI PROTEIN; CARCINOMA; COLORECTAL NEOPLASMS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENE EXPRESSION REGULATION, NEOPLASTIC; GENE FREQUENCY; GENE SILENCING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICRORNAS; MICROSATELLITE INSTABILITY; MUTATION; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PROGNOSIS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; RNA, MESSENGER; WNT SIGNALING PATHWAY;

EID: 84872842789     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.4087     Document Type: Article

References (30)

1. Registries CfDCaPNPoC,., United States Cancer Statistics,: 2007 Top Ten Cancers. U.S. Department of Health and Human Services. 2011.
2. Wolpin BM, Mayer RJ,. Systemic treatment of colorectal cancer. Gastroenterology 2008; 134: 1296-1310.
3. 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.
4. Parsons R, Li GM, Longley MJ, et al,. Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 1993; 75: 1227-1236.
5. Boland CR, Goel A,. Microsatellite instability in colorectal cancer. Gastroenterology 2010; 138: 2073-2087.
6. Kane MF, Loda M, Gaida GM, et al,. 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 1997; 57: 808-811.
7. Toyota M, Ahuja N, Ohe-Toyota M, et al,. CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci U S A 1999; 96: 8681-8686.
8. Ogino S, Nosho K, Kirkner GJ, et al,. CpG island methylator phenotype, microsatellite instability, BRAF mutation and clinical outcome in colon cancer. Gut 2009; 58: 90-96.
9. Fodde R, Smits R, Clevers H,. APC, signal transduction and genetic instability in colorectal cancer. Nature Rev Cancer 2001; 1: 55-67.
10. Walther A, Johnstone E, Swanton C, et al,. Genetic prognostic and predictive markers in colorectal cancer. Nature Rev Cancer 2009; 9: 489-499.
11. Karapetis CS, Khambata-Ford S, Jonker DJ, et al,. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N Engl J Med 2008; 359: 1757-1765.
12. Salahshor S, Kressner U, Påhlman L, et al,. Colorectal cancer with and without microsatellite instability involves different genes. Genes Chromosomes Cancer 1999; 26: 247-252.
13. Frattini M, Balestra D, Suardi S, et al,. Different genetic features associated with colon and rectal carcinogenesis. Clin Cancer Res 2004; 10: 4015-4021.
14. Samowitz WS, Slattery ML, Sweeney C, et al,. APC mutations and other genetic and epigenetic changes in colon cancer. Mol Cancer Res 2007; 5: 165-170.
15. Albuquerque C, Baltazar C, Filipe B, et al,. Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability. Genes Chromosomes Cancer 2010; 49: 746-759.
16. Sjoblom T, Jones S, Wood LD, et al,. The consensus coding sequences of human breast and colorectal cancers. Science 2006; 314: 268-274.
17. Wood LD, Parsons DW, Jones S, et al,. The genomic landscapes of human breast and colorectal cancers. Science 2007; 318: 1108-1113.
18. Leary RJ, Lin JC, Cummins J, et al,. Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers. Proc Natl Acad Sci U S A 2008; 105: 16224-16229.
19. The Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012; 487: 330-337.
20. Singh A, Greninger P, Rhodes D, et al,. A gene expression signature associated with 'K-Ras addiction' reveals regulators of EMT and tumor cell survival. Cancer Cell 2009; 15: 489-500.
21. Padua D, Zhang XH, Wang Q, et al,. TGFβ primes breast tumors for lung metastasis seeding through angiopoietin-like 4. Cell 2008; 133: 66-77.
22. Saldanha AJ,. Java Treeview-extensible visualization of microarray data. Bioinformatics 2004; 20: 3246-3248.
23. Lustig B, Jerchow B, Sachs M, et al,. Negative feedback loop of Wnt signaling through upregulation of conductin/axin2 in colorectal and liver tumors. Mol Cell Biol 2002; 22: 1184-1193.
24. Boerboom D, White LD, Dalle S, et al,. Dominant-stable beta-catenin expression causes cell fate alterations and Wnt signaling antagonist expression in a murine granulosa cell tumor model. Cancer Res 2006; 66: 1964-1973.
25. Markowitz S, Wang J, Myeroff L, et al,. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 1995; 268: 1336-1338.
26. Hempen PM, Zhang L, Bansal RK, et al,. Evidence of selection for clones having genetic inactivation of the activin A type II receptor (ACVR2) gene in gastrointestinal cancers. Cancer Res 2003; 63: 994-999.
27. Kolodner RD, Marsischky GT,. Eukaryotic DNA mismatch repair. Curr Opin Genet Dev 1999; 9: 89-96.
28. Shepherd C, Puzanov I, Sosman JA,. B-RAF inhibitors: an evolving role in the therapy of malignant melanoma. Curr Oncol Rep 2010; 12: 146-152.
29. Nissan MH, Solit DB,. The 'SWOT' of BRAF inhibition in melanoma: RAF inhibitors, MEK inhibitors or both? Curr Oncol Rep 2011; 13: 479-487.
30. Lin JS, Webber EM, Senger CA, et al,. Systematic review of pharmacogenetic testing for predicting clinical benefit to anti-EGFR therapy in metastatic colorectal cancer. Am J Cancer Res 2011; 1: 650-662.