Oesophageal squamous cell carcinoma in a young adult with IL-12Rβ1 deficiency

Título:	Oesophageal squamous cell carcinoma in a young adult with IL-12Rβ1 deficiency
Autores/as:	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
Clasificación UNESCO:	32 Ciencias médicas 320102 Genética clínica 320101 Oncología
Palabras clave:	Oesophageal squamous cell Carcinoma IL-12Rβ1 deficiency
Fecha de publicación:	2010
Publicación seriada:	Journal of Medical Genetics
Resumen:	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.
URI:	http://hdl.handle.net/10553/48629
ISSN:	0022-2593
DOI:	10.1136/jmg.2009.071910
Fuente:	Journal of Medical Genetics[ISSN 0022-2593],v. 47(9), p. 635-637 (Junio 2010)
Colección:	Artículos

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