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Revista Portuguesa de Pneumologia

versão impressa ISSN 0873-2159


MACEDO, Joana Espiga et al. Genetic alterations in lung cancer: Assessing limitations in routine clinical use. Rev Port Pneumol [online]. 2007, vol.13, n.1, pp.9-34. ISSN 0873-2159.

Lung cancer is the most frequent cause of cancer mortality worldwide, responsible for approximately 1.1 million deaths per year. Median survival is short, both as most tumours are diagnosed at an advanced stage and because of the limited efficacy of available treatments. The development of tumour molecular genetics carries the promise of altering this state of affairs, as it should lead to a more precise classification of tumours, identify specific molecular targets for therapy and, above all, allow the development of new methods for early diagnosis. Despite numerous studies demonstrating the usefulness of molecular genetic techniques in the study of lung cancer, its routine clinical use in Portugal has, however, been limited. In this study, we used a p53 mutation screen in multiple clinical samples from a series of lung cancer patients to attempt to identify the main practical limitations to the integration of molecular genetics in routine clinical practice. Our results suggest that the main limiting factor is the availability of samples with good quality DNA; a problem that could be overcome by alterations in common sample collection and storage procedures.

Palavras-chave : Cancer; lung; clinical; molecular genetics; mutation; p53.

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