Nepa, Mahesh and Lokineni, Sravani and Naing, Le Yu and Bapaye, Jay and Olson, Erik (2021) A Rare Case of Serrated Polyposis Syndrome with the MSH6 and SMARCA4 variants. European Journal of Case Reports in Internal Medicine, 8 (7). pp. 1-3. ISSN 2284-2594
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Abstract
Serrated polyposis syndrome (SPS) is the most common form of polyposis syndrome and has been shown to increase the risk of colorectal cancer (CRC). The genetic pathway of CRC in SPS is different from the classic adenomatous polyposis coli (APC) pathway, which accounts for 70–80% of cases of CRC. Most commonly, SPS mutations include BRAF and KRAS, with activation of the RAS-RAF-MAP kinase pathway involved in the pathogenesis of serrated lesions. We present a rare case of SPS in a 32-year-old woman with MSH6 and SMARCA4 variants, which have not previously been reported in the literature
| Item Type: | Article |
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| Uncontrolled Keywords: | Serrated polyposis syndrome, colonoscopy |
| Subjects: | 600 Tecnologia - Scienze applicate 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 25 Jan 2022 15:49 |
| Last Modified: | 25 Jan 2022 15:49 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/21422 |
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