Microsatellite frameshift variants in SGO1 of gastric cancer are not always associated with MSI status
| Autor: | Haruhiko Sugimura, Ken Sugimoto, Shinya Tani, Terumi Taniguchi, Moriya Iwaizumi, Masato Maekawa, Takahisa Furuta, Hiroaki Miyajima, Satoshi Osawa, Yasushi Hamaya, Tomohiro Sugiyama, Satoshi Baba, Mihoko Yamade, Satoshi Suzuki, Tsutomu Ohta |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Cancer Context (language use) General Medicine Biology medicine.disease TA cloning Pathology and Forensic Medicine Frameshift mutation 03 medical and health sciences 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis medicine Cancer research Microsatellite DNA mismatch repair Gastrointestinal cancer Stage (cooking) |
| Zdroj: | Journal of Clinical Pathology. 74:386-390 |
| ISSN: | 1472-4146 0021-9746 |
| DOI: | 10.1136/jclinpath-2020-206934 |
| Popis: | AimsAlthough frameshift variants in the microsatellite area of shugoshin 1 (SGO1) have been reported in the context of microsatellite instability-high (MSI-H)/deficient mismatch repair gastrointestinal cancer, most have been evaluated only in early stage I–III patients, and only two of its five microsatellite regions have been evaluated. Therefore, we investigated the frequency and MSI status of microsatellite frameshift variants in gastric cancer cases, including stage IV.MethodsIn a total of 55 cases, 30 gastric cancer resection and 25 non-resection cases, DNA was extracted from both tumour and normal parts and PCR was performed. The variant was confirmed by TA cloning, and MSI was evaluated using GeneMapper software.ResultsA frameshift variant of c.973delA was observed in 16 of the 45 evaluable cases. Its frequency was 35.6%. Of the 25 cases that could be assessed for MSI status, two cases of MSI-H were associated with the c.973delA SGO1 variant. However, c.973delA SGO1 variant was also observed in four cases of microsatellite stable.ConclusionOur study shows that SGO1 frameshift variants are not always associated with MSI status. |
| Databáze: | OpenAIRE |
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