9-Sep

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9-Sep

A gene on chromosome 17q25 that encodes septin 9, a member of the septin family of nucleotide-binding proteins, which are required for cytokinesis, organisation of submembranous structures, neuronal polarity and vesicle trafficking. SEPT9 is a candidate for ovarian tumour suppressor gene.

Molecular pathology
SEPT9 mutations cause hereditary neuralgic amyotrophy (neuritis with brachial predilection). A translocation between SEPT9 and MLL on chromosome 11 results in acute myelomonocytic leukaemia.
References in periodicals archive ?
The first blood test to be commercialized for CRC screening (methylated septin 9 [Epi pro-Colon], Epigenomics, San Diego, California) has such suboptimal performance characteristics that the USPSTF did not include it among its recommended tests, (1) and the USMSTF on CRC flatly recommended against its use.
Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancer.
Mt-sDNA had high sensitivity, similar specificity, and high costs compared with those of FIT alone.[12] In 2016, the first blood-based test, i.e., mSEPT9 assay was evolved, as hypermethylated DNA of septin 9 gene might be shed into the bloodstream from CRC tissues and be detected.
(20) Recently, the Septin 9 serum assay was approved by the US Food and Drug Administration for the screening of adults aged [greater than or equal to]50 years who have been offered, but not completed, CRC screening.
Tulassay, "Plasma methylated septin 9: a colorectal cancer screening marker," Expert Review of Molecular Diagnostics, vol.
Septin 9 has been shown to play a critical role in mitotic cell division (16), inhibition of proliferation, tumor growth, and angiogenesis (15, 17).
(28.) Ahlquist DA, Taylor WR, Mahoney DW The stool DNA test is more accurate than the plasma septin 9 test in detecting colorectal neoplasia.
Methylated septin 9, mutations in cell-free DNA, and several miRNAs extracted from plasma or serum show promising results towards the noninvasive tests for CRC.
Shibata et al., "Mitochondrial prohibitins and septin 9 are implicated in the onset of rat hepatocarcinogenesis," Toxicological Sciences, vol.
(2008) Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay.
For example, detection of septin 9 (SEPT9) gene hypermethylation in the blood has been used in colorectal carcinoma screening whereas detection of glutathione S-transferase pi (GSTPi) gene hypermethylation in urine has been utilized as a prostate cancer biomarker [10-12].