Along with AHNAK, eIF4E and S100A11, SEPT9 has been shown to be essential for pseudopod protrusion, tumor cell migration and invasion.[9]
Clinical significance
The v2 region of the SEPT9 promoter has been shown to be methylated in colorectal cancer tissue compared with normal colonic mucosa.[10] Using highly sensitive real time PCR assays, methylated SEPT9 was detected in the blood of colorectal cancer patients. This alternate methylation pattern in cancer samples is suggestive of an aberrant activation or repression of the gene compared to normal tissue samples.[11][12]
Testing to detect methylated SEPT9 is not indicated as a first option for colorectal cancer screening.[13] It is similar in specificity and sensitivity to the stool guaiac test or fecal immune tests, and those tests should be used in preference.[13] In cases when the physician aggressively has recommended a colonoscopy and the patient has declined that and these other tests, then this test has advantages over patients having no screening at all.[13]
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Kalikin LM, Sims HL, Petty EM (Jan 2000). "Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors". Genomics. 63 (2): 165–72. doi:10.1006/geno.1999.6077. PMID10673329.
Russell SE, McIlhatton MA, Burrows JF, Donaghy PG, Chanduloy S, Petty EM, Kalikin LM, Church SW, McIlroy S, Harkin DP, Keilty GW, Cranston AN, Weissenbach J, Hickey I, Johnston PG (Sep 2000). "Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors". Cancer Research. 60 (17): 4729–34. PMID10987277.
Yamamoto K, Shibata F, Yamaguchi M, Miura O (Jun 2002). "Fusion of MLL and MSF in adult de novo acute myelomonocytic leukemia (M4) with t(11;17)(q23;q25)". International Journal of Hematology. 75 (5): 503–7. doi:10.1007/BF02982114. PMID12095151.
Scott M, McCluggage WG, Hillan KJ, Hall PA, Russell SE (Mar 2006). "Altered patterns of transcription of the septin gene, SEPT9, in ovarian tumorigenesis". International Journal of Cancer. 118 (5): 1325–9. doi:10.1002/ijc.21486. PMID16161048.
Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stögbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF (Oct 2005). "Mutations in SEPT9 cause hereditary neuralgic amyotrophy". Nature Genetics. 37 (10): 1044–6. doi:10.1038/ng1649. PMID16186812.