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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 8 - 16 (9page)
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Mutations in the β-catenin gene (CTNNB1) have been implicated in the pathogenesis of some cancers. The recent development of cancer genome databases has facilitated comprehensive and focused analyses on the mutation status of cancer-related genes. We have used these databases to analyze the CTNNB1 mutations assembled from different tumor types. High incidences of CTNNB1 mutations were detected in endometrial, liver, and colorectal cancers. This finding agrees with the oncogenic role of aberrantly activated β-catenin in epithelial cells. Elevated frequencies of missense mutations were found in the exon 3 of CTNNB1, which is responsible for encoding the regulatory amino acids at the N-terminal region of the protein. In the case of metastatic colorectal cancers, inframe deletions were revealed in the region spanning exon 3. Thus, exon 3 of CTNNB1 can be considered to be a mutation hotspot in these cancers. Since the N-terminal region of the β-catenin protein forms a flexible structure, many questions arise regarding the structural and functional impacts of hotspot mutations. Clinical identification of hotspot mutations could provide the mechanistic basis for an oncogenic role of mutant β-catenin proteins in cancer cells. Furthermore, a systematic understanding of tumor-driving hotspot mutations could open new avenues for precision oncology.
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참고문헌 (74)
참고문헌 신청
Aberle, H. / 1997 / β-catenin is a target for the ubiquitin-proteosome pathway / EMBO J 16:3797~3804
Adzhubei, I. A. / 2010 / A method and server for predicting damaging missense mutations / Nat. Methods 7:248~249
Ahn, S. M. / 2014 / Genomic portrait of resectable hepatocellular carcinomas : implications of RB1and FGF19 aberrations for patient stratification / Hepatology 60:1972~1982
Blum, A. / 2018 / SnapShot : TCGAanalyzed tumors / Cell 173:530
Bray, F. / 2018 / Global cancer statistics 2018 : GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185countries / CA Cancer J. Clin 68:394~424
Adzhubei, I. A. / 2010 / A method and server for predicting damaging missense mutations / Nat. Methods 7:248~249
Ahn, S. M. / 2014 / Genomic portrait of resectable hepatocellular carcinomas : implications of RB1and FGF19 aberrations for patient stratification / Hepatology 60:1972~1982
Blum, A. / 2018 / SnapShot : TCGAanalyzed tumors / Cell 173:530
Bray, F. / 2018 / Global cancer statistics 2018 : GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185countries / CA Cancer J. Clin 68:394~424
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