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      Detection of novel mitochondrial mutations in cytochrome C oxidase subunit 1 (COX1) in patients with familial adenomatous polyposis (FAP).

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          Abstract

          Familial adenomatous polyposis (FAP) is an Autosomal dominant inherited disorder and a rare form‌ of colorectal cancer (CRC) that is characterized by the development of hundreds to thousands of adenomas in the rectum and colon. Mostly, cancers develop after the advent of the polyps. It appears in both sexes evenly, and the occurrence of the disease is in the second decade of life. Mitochondrial genome mutations have been reported with a variety of Tumors, but the precise role of these mutations in the pathogenicity and tumor progression is not exactly clear. Cytochrome c oxidase subunit I (COX1) is the terminal enzyme of the mitochondrial respiratory chain. The present study aims at assessing the occurrence of mtDNA mutations in COX1 gene in FAP patients and attempts to find out the cause and effect relationship between mitochondrial mutations and tumor progression.

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          Author and article information

          Journal
          Clin Transl Oncol
          Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
          Springer Science and Business Media LLC
          1699-3055
          1699-048X
          Jun 2020
          : 22
          : 6
          Affiliations
          [1 ] Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.
          [2 ] Department of Biology, Faculty of Science, Yazd University, Yazd, Iran. heidarimm@yazd.ac.ir.
          Article
          10.1007/s12094-019-02208-6
          10.1007/s12094-019-02208-6
          31552592
          a09fadce-0173-4ee4-b206-f12f462fd2db
          History

          Mutations,COX1 genes,Familial adenomatous polyposis,Mitochondria

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