POLE somatic mutations in advanced colorectal cancer

• Tipo: Artigo em Revista Científica Internacional
• Data: 2017

Autores

Guerra, J (Autor) Outra; Pinto, C (Autor) Outra; Pinto, D (Autor) Outra; Pinheiro, M (Autor) Outra; Silva, R (Autor) Outra; Peixoto, A (Autor) Outra; Rocha, P (Autor) Outra; Veiga, I (Autor) Outra; Santos, C (Autor) Outra; Santos, R (Autor) Outra; Cabreira, V (Autor) Outra; Lopes, P (Autor) Outra; henrique, rmf (Autor) ICBAS; Manuel R Teixeira (Autor) ICBAS

Revista

A Revista está pendente de validação pelos Serviços Administrativos.

Título: CANCER MEDICINE

Vol. 6

Páginas: 2966-2971

ISSN: 2045-7634

Indexação

ISI Web of Knowledge - 36 Citações

Scopus - 34 Citações

Outras Informações

ID Authenticus: P-00N-BBM

DOI: 10.1002/cam4.1245

Abstract (EN): Despite all the knowledge already gathered, the picture of somatic genetic changes in colorectal tumorigenesis is far from complete. Recently, germline and somatic mutations in the exonuclease domain of polymerase epsilon, catalytic subunit (POLE) gene have been reported in a small subset of microsatellite-stable and hypermutated colorectal carcinomas (CRCs), affecting the proofreading activity of the enzyme and leading to misincorporation of bases during DNA replication. To evaluate the role of POLE mutations in colorectal carcinogenesis, namely in advanced CRC, we searched for somatic mutations by Sanger sequencing in tumor DNA samples from 307 cases. Microsatellite instability and mutation analyses of a panel of oncogenes were performed in the tumors harboring POLE mutations. Three heterozygous mutations were found in two tumors, the c.857C>G, p.Pro286Arg, the c.901G>A, p.Asp301Asn, and the c.1376C>T, p.Ser459Phe. Of the POLE-mutated CRCs, one tumor was microsatellite-stable and the other had low microsatellite instability, whereas KRAS and PIK3CA mutations were found in one tumor each. We conclude that POLE somatic mutations exist but are rare in advanced CRC, with further larger studies being necessary to evaluate its biological and clinical implications.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 6