| Note | |
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| Entity | Glioma |
| Note | SOX2 expression was found to be highly expressed in almost all glioma samples. In agreement with the heterogeneity of the cell population present in each glioma, typically containing cells at various stages of differentiation, SOX2 is expressed in a highly variable percentage of cells, in the range of 6%-80% in different samples (Annovazzi et al., 2011; Gangemi et al., 2009). |
| Disease | Gliomas are the primary cancers derived from glial cells in the brain. It is the most frequent cerebral neoplasias. Astrocytomas are the most common type of gliomas. They are slow-growing, and can be found anywhere in the brain, but most often found in the cerebrum. They can be clinically divided into four grades, with glioblastoma (World Health Organization grade IV) being the most common and aggressive. |
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| Entity | Lung cancer (small cell lung cancer; lung squamous cell carcinomas) |
| Note | SOX2 was detected in 50% SCLC cell lines. Hussenet et al. identified SOX2 as an oncogene and likely driver gene of one of the most frequent amplification sites in lung SCC (Hussenet et al., 2010; Sholl et al., 2010a; Sholl et al., 2010b). |
| Disease | Lung cancer results from the uncontrolled growth of abnormal cells in lungs. It is the leading cause of cancer death for both men and women. Close to 90 percent of lung cancers are smoking related.
Small cell lung cancer (SCLC) is a highly aggressive form of lung cancer that accounts for approximately 20% of all cases of lung cancer. SCLC is a carcinoma of neuroendocrine origin, in contrast to non-SCLC (NSCLC), which is of bronchial epithelial origin.
Squamous cell carcinoma (SCC) of the lung is a frequent and aggressive cancer type. It is closely correlated with a history of tobacco smoking, more so than most other types of lung carcinoma (Hussenet et al., 2010). |
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| | |
| Entity | Gastric cancer (stomach cancer) |
| Note | SOX2 expression was significantly down-regulated in gastric carcinoma tissues compared with normal gastric epithelia. SOX2 could induce cell-cycle arrest associated with decreased levels of CCND1 and phosphorylated Rb, and up-regulated p27Kip1 level (Otsubo et al., 2008). |
| Disease | Gastric cancer, commonly referred to as stomach cancer, forms in tissues that line the stomach. Adenocarcinomas is the most comnon type (90-95%),but there are other types of stomach cancer including squamous cell carcinoma, lymphoma, and stromal tumors. Gastric cancer is the second most frequent cause of death from cancer in both sexes in the world. |
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| | |
| Entity | Breast cancer |
| Note | SOX2 nuclear protein level was highly associated with basal-like phenotype in human breast cancer. Knockdown of SOX2 could inhibit tumorgenesis in vitro and in vivo (Chen et al., 2008). |
| Disease | Breast cancer forms in the tissues of one or both breasts. It primarily affects women, but can also occur in children and men. It can be a highly curable disease if detected and treated early. |
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| | |
| Entity | Colorectal cancer |
| Note | SOX2 expression in colorectal cancer tissues was found overexpressed in the cancerous tissues compared to normal adjacent tissues. Knockdown of SOX2 in colorectal cancer cells decreased their growth rates in vitro cell line and in vivo in xenograft models (Fang et al., 2010). |
| Disease | Colorectal cancer is the second most common malignancy in cancer patients and cause of cancer-related mortality. Colorectal cancers develop slowly over many years, initially as a polyp in the inner lining of the colon or rectum, which may progress into cancerous lesions called adenocarcinomas. More than 95 percent of colorectal cancers are adenocarcinomas. Removing the polyp early may prevent progession to cancer. Other less common types of colorectal cancers include carcinoid tumors, gastrointestinal stromal tumors and lymphomas. |
| | |
| SOX2 expression and amplification in gliomas and glioma cell lines. |
| Annovazzi L, Mellai M, Caldera V, Valente G, Schiffer D. |
| Cancer Genomics Proteomics. 2011 May-Jun;8(3):139-47. |
| PMID 21518820 |
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| SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. |
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| Br J Ophthalmol. 2007 Nov;91(11):1471-6. Epub 2007 May 23. |
| PMID 17522144 |
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| Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators. |
| Bowles J, Schepers G, Koopman P. |
| Dev Biol. 2000 Nov 15;227(2):239-55. (REVIEW) |
| PMID 11071752 |
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| The molecular mechanism governing the oncogenic potential of SOX2 in breast cancer. |
| Chen Y, Shi L, Zhang L, Li R, Liang J, Yu W, Sun L, Yang X, Wang Y, Zhang Y, Shang Y. |
| J Biol Chem. 2008 Jun 27;283(26):17969-78. Epub 2008 May 2. |
| PMID 18456656 |
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| ChIP-seq and functional analysis of the SOX2 gene in colorectal cancers. |
| Fang X, Yu W, Li L, Shao J, Zhao N, Chen Q, Ye Z, Lin SC, Zheng S, Lin B. |
| OMICS. 2010 Aug;14(4):369-84. |
| PMID 20726797 |
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| Mutations in SOX2 cause anophthalmia. |
| Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. |
| Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3. |
| PMID 12612584 |
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| SOX2 silencing in glioblastoma tumor-initiating cells causes stop of proliferation and loss of tumorigenicity. |
| Gangemi RM, Griffero F, Marubbi D, Perera M, Capra MC, Malatesta P, Ravetti GL, Zona GL, Daga A, Corte G. |
| Stem Cells. 2009 Jan;27(1):40-8. |
| PMID 18948646 |
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| Generation of induced pluripotent stem cells from human cord blood cells with only two factors: Oct4 and Sox2. |
| Giorgetti A, Montserrat N, Rodriguez-Piza I, Azqueta C, Veiga A, Izpisua Belmonte JC. |
| Nat Protoc. 2010;5(4):811-20. Epub 2010 Apr 1. |
| PMID 20360773 |
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| SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. |
| Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI. |
| Am J Med Genet A. 2005 Oct 1;138A(2):95-8. |
| PMID 16145681 |
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| SOX2 is an oncogene activated by recurrent 3q26.3 amplifications in human lung squamous cell carcinomas. |
| Hussenet T, Dali S, Exinger J, Monga B, Jost B, Dembele D, Martinet N, Thibault C, Huelsken J, Brambilla E, du Manoir S. |
| PLoS One. 2010 Jan 29;5(1):e8960. |
| PMID 20126410 |
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| SOX2 is frequently downregulated in gastric cancers and inhibits cell growth through cell-cycle arrest and apoptosis. |
| Otsubo T, Akiyama Y, Yanagihara K, Yuasa Y. |
| Br J Cancer. 2008 Feb 26;98(4):824-31. Epub 2008 Feb 12. |
| PMID 18268498 |
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| A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. |
| Pedace L, Castori M, Binni F, Pingi A, Grammatico B, Scommegna S, Majore S, Grammatico P. |
| Eur J Med Genet. 2009 Jul-Aug;52(4):273-6. Epub 2009 Feb 28. |
| PMID 19254784 |
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| Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. |
| Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, Horikawa R, Ogata T. |
| Eur J Endocrinol. 2007 Feb;156(2):167-71. |
| PMID 17287405 |
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| Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families. |
| Schepers GE, Teasdale RD, Koopman P. |
| Dev Cell. 2002 Aug;3(2):167-70. (REVIEW) |
| PMID 12194848 |
| |
| Sox2 protein expression is an independent poor prognostic indicator in stage I lung adenocarcinoma. |
| Sholl LM, Barletta JA, Yeap BY, Chirieac LR, Hornick JL. |
| Am J Surg Pathol. 2010a Aug;34(8):1193-8. |
| PMID 20631605 |
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| Sox2 expression in pulmonary non-small cell and neuroendocrine carcinomas. |
| Sholl LM, Long KB, Hornick JL. |
| Appl Immunohistochem Mol Morphol. 2010b Jan;18(1):55-61. |
| PMID 19661786 |
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| Induction of pluripotent stem cells from adult human fibroblasts by defined factors. |
| Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S. |
| Cell. 2007 Nov 30;131(5):861-72. |
| PMID 18035408 |
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| Novel SOX2 mutation associated with ocular coloboma in a Chinese family. |
| Wang P, Liang X, Yi J, Zhang Q. |
| Arch Ophthalmol. 2008 May;126(5):709-13. |
| PMID 18474784 |
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| From head to toes: the multiple facets of Sox proteins. |
| Wegner M. |
| Nucleic Acids Res. 1999 Mar 15;27(6):1409-20. (REVIEW) |
| PMID 10037800 |
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| Molecular basis for synergistic transcriptional activation by Oct1 and Sox2 revealed from the solution structure of the 42-kDa Oct1.Sox2.Hoxb1-DNA ternary transcription factor complex. |
| Williams DC Jr, Cai M, Clore GM. |
| J Biol Chem. 2004 Jan 9;279(2):1449-57. Epub 2003 Oct 14. |
| PMID 14559893 |
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| Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. |
| Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. |
| Hum Mol Genet. 2006 May 1;15(9):1413-22. Epub 2006 Mar 16. |
| PMID 16543359 |
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| Induced pluripotent stem cell lines derived from human somatic cells. |
| Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, Tian S, Nie J, Jonsdottir GA, Ruotti V, Stewart R, Slukvin II, Thomson JA. |
| Science. 2007 Dec 21;318(5858):1917-20. Epub 2007 Nov 20. |
| PMID 18029452 |
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