Journal
GASTROENTEROLOGY
Volume 145, Issue 3, Pages 540-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.gastro.2013.05.015
Keywords
CRC; Mismatch Repair; Exome Sequencing; Genetic Analysis
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Funding
- Academy of Finland (Finnish Center of Excellence Program)
- Finnish Cancer Society
- Sigrid Juselius Foundation
- Finnish Medical Society Duodecim
- Cancer Foundation of Irja Karvonen
- Maud Kuistila Foundation
- Finska Lakarsallskapet
- Biomedicum Helsinki Foundation
- Jalmari and Rauha Ahokas Foundation
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Microsatellite instability can be found in approximately 15% of all colorectal cancers. To detect new oncogenes we sequenced the exomes of 25 colorectal tumors and respective healthy colon tissue. Potential mutation hot spots were confirmed in 15 genes; ADAR, DCAF12L2, GLT1D1, ITGA7, MAP1B, MRGPRX4, PSRC1, RANBP2, RPS6KL1, SNCAIP, TCEAL6, TUBB6, WBP5, VEGFB, and ZBTB2; these were validated in 86 tumors with microsatellite instability. ZBTB2, RANBP2, and PSRC1 also were found to contain hot spot mutations in the validation set. The form of ZBTB2 associated with colorectal cancer increased cell proliferation. The mutation hot spots might be used to develop personalized tumor profiling and therapy.
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