Genetic Analysis Reveals the Important Role of the APC Gene in Clear Cell Renal Cell Carcinoma
| Autor: | Yen-Chein Lai, Wen-Chung Wang |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Sanger sequencing
Cancer Research Tumor suppressor gene General Medicine Methylation Biology urologic and male genital diseases MLH1 medicine.disease medicine.disease_cause female genital diseases and pregnancy complications Clear cell renal cell carcinoma symbols.namesake Oncology FHIT CDKN2B Cancer research medicine symbols Carcinogenesis neoplasms |
| Zdroj: | Anticancer Research. 41:4295-4304 |
| ISSN: | 1791-7530 0250-7005 |
| DOI: | 10.21873/anticanres.15234 |
| Popis: | Background/aim Renal cell carcinoma (RCC) is the most common type of kidney cancer in adults. The aim of this study was to elucidate the molecular pathogenesis of sporadic RCC in Taiwan. Materials and methods Fifteen patients with RCC were screened for mutations in the von Hippel-Lindau (VHL) gene by PCR and Sanger sequencing. The methylation status of promoters of 24 tumor suppressor genes by methylation sensitive multiplex ligation-dependent probe amplification analysis was also determined. Results Inactivation of the VHL gene was observed in 5 cases: three missense somatic mutations, one promoter methylation, and one small deletion. In RCCs, methylation was most frequently observed in APC (100%), CDKN2B (92.9%), CASP8, MLH1_167, and KLLN (85.7.4%), but not in FHIT, MLH1_463, DAPK1, or HIC1 (0%). Conclusion In addition to VHL inactivation, promoter methylation of APC may be a universal pathognomonic event in the tumorigenesis of RCC and a candidate diagnostic and therapeutic biomarker. |
| Databáze: | OpenAIRE |
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