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• W2414628048 abstract "<b><i>Objective:</i></b> The transcription factor-encoding <i>EGR1</i> and the kinase-encoding <i>BRSK1</i> are considered putative tumor suppressor genes (TSGs). However, <i>EGR1 </i>and <i>BRSK1 </i>mutations that could inactivate their functions are not reported in colorectal (CRC) and gastric (GC) cancers. <b><i>Methods:</i></b> There are mononucleotide repeats in <i>EGR1 </i>and <i>BRSK1</i>, which could be mutated in cancers with defects in mismatch repair, resulting in microsatellite instability (MSI). We analyzed 124 CRCs and 79 GCs for mutations and their intratumoral heterogeneities (ITHs). <b><i>Results:</i></b> Twenty-one out of 79 CRCs (26.6%) and 5 out of 34 GCs (14.7%) carrying high MSI (MSI-H) exhibited frameshift mutations. However, we found no such mutations in cancers with microsatellite stability. In addition, we studied ITH for these mutations in 16 cases of CRCs and observed that <i>EGR1 </i>and <i>BRSK1 </i>mutations exhibited ITH in 3 (18.8%) and 2 (12.5%) cases, respectively. <b><i>Conclusion:</i></b> Our data in this study reveal that the TSG genes <i>EGR1 </i>and <i>BRSK1</i> carry mutational ITH as well as frameshift mutations in MSI-H CRC and GC, which together may be features of GC and CRC with MSI-H. These results suggest that frameshift mutations of <i>EGR1 </i>and <i>BRSK1</i> might play a role in tumorigenesis through TSG inactivation in CRC and GC." @default.
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• W2414628048 date "2016-01-01" @default.
• W2414628048 modified "2023-10-10" @default.
• W2414628048 title "Putative Tumor Suppressor Genes <b><i>EGR1 </i></b>and<b><i> BRSK1</i></b> Are Mutated in Gastric and Colorectal Cancers" @default.
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• W2414628048 doi "https://doi.org/10.1159/000450616" @default.
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