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Title: Oesophageal squamous cell carcinoma in a young adult with IL-12Rβ1 deficiency
Authors: Cárdenes, María
Angel-Moreno, Alfonso
Fieschi, Claire
Sologuren, Ithaisa
Colino, Elena
Molinés, Antonio
García-Laorden, M. Isabel
Campos-Herrero, M. Isolina 
Andujar Sanchez, Miguel 
Casanova, Jean Laurent
Rodríguez-Gallego, Carlos 
UNESCO Clasification: 32 Ciencias médicas
320102 Genética clínica
320101 Oncología
Keywords: Oesophageal squamous cell
IL-12Rβ1 deficiency
Issue Date: 2010
Journal: Journal of Medical Genetics 
Abstract: Genetic defects in the IL-12-IL-23/IFN-γ circuit confer Mendelian susceptibility to mycobacteria and salmonella. The IL-12/IFN-γ axis is essential for anti-tumoral immunity in mice. Cancer susceptibility has not been recognised in these patients so far. We report three relatives with IL-12Rβ1 deficiency. At the age of 25 years old, one patient presented with oesophageal squamous cell carcinoma (OSCC). The patient had no previous risk factors for OSCC. He died at the age of 29 years. OSCC is exceedingly rare in individuals under 30 years and frequently relates to alcohol intake and smoking. Disorders of the IL-12-IL-23/IFN-γ axis may predispose to cancer.
ISSN: 0022-2593
DOI: 10.1136/jmg.2009.071910
Source: Journal of Medical Genetics[ISSN 0022-2593],v. 47(9), p. 635-637 (Junio 2010)
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