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Lack of Bcl10 gene mutations in laryngeal squamous cell carcinoma

Published online by Cambridge University Press:  08 March 2006

Domenica Ronchetti
Affiliation:
Clinica Otorhinolaringoiatrica I, Universitàdegli Studi di Milano, 20122 Milano, Italy.
Daniela Intini
Affiliation:
Laboratorio di Ematologia Sperimentale e Genetica Molecolare, Servizio di Ematologia, Dipartimento di Scienze Mediche, Ospedale Maggiore IRCCS, 20122 Milano, Italy.
Giancarlo Pruneri
Affiliation:
Istituto Europeo di Oncologia (IRCCS) divisione di Anatomia Patologica e Medicina di Laboratorio, Universita` di Milano, 20122 Milano, Italy.
Antonino Neri
Affiliation:
Laboratorio di Ematologia Sperimentale e Genetica Molecolare, Servizio di Ematologia, Dipartimento di Scienze Mediche, Ospedale Maggiore IRCCS, 20122 Milano, Italy.
Lorenzo Pignataro
Affiliation:
Clinica Otorhinolaringoiatrica I, Universitàdegli Studi di Milano, 20122 Milano, Italy.

Abstract

The Bcl10 gene encodes a protein probably involved in some apoptotic regulatory pathways. Bcl10 mutations lead to the translation of truncated proteins that show gain-of-function transforming activity; it has been suggested thaBcl10 may represent a major target gene for inactivation in many human cancers. To define the frequency of Bcl10 mutations in laryngeal squamous cell carcinoma and their possible association with tumour progression, we investigated a large panel of tumours representative of all grades and stages of malignancy.

To detect pathogenic mutations in exons 1, 2 and 3 of the Bcl10 gene, we performed a silver-staining polymerase chain reaction – single-strand conformation polymorphism (PCR-SSCP) analysis followed by direct DNA sequencing. We revealed the presence of SSCP variants in 18 out of 91 laryngeal tumours. Direct DNA sequencing showed previously described polymorphisms but no pathogenic mutations. We have strong evidence that the Bcl10 gene is not involved in laryngeal carcinogenesis.

Type
Research Article
Copyright
© Royal Society of Medicine Press Limited 2002

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