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<i>STAT</i>1 gene mutation is not implicated in upper aerodigestive cancers
Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
Department of Otorhinolaryngology, Maastricht University Medical Center, Maastricht, the Netherlands
Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
- 1 Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
- 2 Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
- 3 Department of Otorhinolaryngology, Maastricht University Medical Center, Maastricht, the Netherlands
- 4 Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
- 5 Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
- 6 Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
- 7 Departments of Gastroenterology and Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
Open Journal of Gastroenterology·Volume 02 (2012)·Pages 68–71·Published 21 May 2012·DOI10.4236/ojgas.2012.22014
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Abstract
Autosomal Dominant Chronic Mucocutaneous Candidiasis (AD-CMC) is characterized by defective T cell immunity, leading to fungal infections limited to mucosal surfaces. Recently it was discovered that mutations in the coiled-coil (CC) domain of STAT 1 are the cause of AD-CMC. STAT 1 deficiency has been implicated in experimental models of oesophageal cancer (EC) and head and neck carcinoma (HNC). Both carcinoma types are prevalent among CMC patients. Consequently, we postulated that the same mutation in the STAT 1 gene triggering AD-CMC, could also be involved in oesophageal- or head and neck carcinogenesis. However we failed to identify the c.820C>T mutation in the STAT1 CC domain in 3 cohorts of Dutch Caucasian origin: being 351 EC patients, 325 HNC patients and 309 controls. Although it seems valuable to investigate the relationship between AD-CMC and upper aerodigestive neo- plasms, the c.820C>T mutation in the STAT1 gene does not seem implicated in EC and HNC aetiology.
Keywords<i>STAT</i>1Signal Transducers and Activators of TranscriptionChronic Mucocutaneous CandidiasisGenetic MutationEsophageal CarcinomaHead and Neck Carcinoma
- Adamkova, L., Souckova, K. and Kovarik, J. (2007) Transcription protein STAT1: Biology and relation to cancer. Folia Biologica, 53, 1-6.
- Yang, J. and Stark, G.R. (2008) Roles of unphosphorylated STATs in signaling. Cell Research, 18, 443-451. doi:10.1038/cr.2008.41
- Bowman, T., Garcia, R., Turkson, J. and Jove, R. (2000) STATs in oncogenesis. Oncogene, 19, 2474-2488. doi:10.1038/sj.onc.1203527
- Nishibori, T., Tanabe, Y., Su, L. and David, M. (2004) Impaired development of CD4+ CD25+ regulatory T cells in the absence of STAT1: Increased susceptibility to autoimmune disease. Journal of Experimental Medicine, 199, 25-34. doi:10.1084/jem.20020509
- van de Veerdonk, F.L., Plantinga, T.S., Hoischen, A., Smeekens, S.P., Joosten, L.A., Gilissen, C., et al. (2011) STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis. New England Journal of Medicine, 365, 54-61. doi:10.1056/NEJMoa1100102
- Koch, D., Lilic, D. and Carmichael, A.J. (2009) Autosomal dominant chronic mucocu-taneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma. Clinical and Experimental Dermatology, 34, 818-820. doi:10.1111/j.1365-2230.2009.03561.x
- Bjorses, P., Halonen, M., Palvimo, J.J., Kolmer, M., Aaltonen, J., Ellonen, P., et al. (2000) Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. American Journal of Human Genetics, 66, 378-392. doi:10.1086/302765
- Watanabe, G., Kaganoi, J., Imamura, M., Shimada, Y., Itami, A., Uchida, S., et al. (2001) Progression of esophageal carcinoma by loss of EGF-STAT1 pathway. Cancer Journal, 7, 132-139.
- Shim, S.H., Sung, M.W., Park, S.W. and Heo, D.S. (2009) Absence of STAT1 disturbs the anticancer effect induced by STAT3 inhibition in head and neck carcinoma cell lines. International Journal of Molecular Medicine, 23, 805-810.
- Firth, N.A., O’Grady, J.F. and Reade, P.C. (1997) Oral squamous cell carcinoma in a young person with candidosis endocrinopathy syndrome: A case report. International Journal of Oral and Maxillofacial Surgery, 26, 42-44. doi:10.1016/S0901-5027(97)80845-4
- Kristinsson, J.O., Van Westerveld, P., Te Morsche, R.H.M., Roelofs, H.M.J., Wobbes, T., Witteman, B.J., et al. (2009) Cyclooxygenase-2 polymorphisms and the risk of esophageal adeno- or squamous cell carcinoma. World Journal of Gastroenterology, 15, 3493-3497. doi:10.3748/wjg.15.3493