GENETIC STUDIES TO DIAGNOSE AND ESTABLISH ADEQUATE TREATMENT STRATEGIES FOR ESOPHAGEAL CANCER
Abstract:
Cancer is a complex disease which appears as a result of the progressive accumulation of genetic aberrations and epigenetic modifications which manage to escape from normal cellular control. Neoplastic cells can have numerous acquired genetic aberrations (aneuploidy, chromosomal rearrangements, amplifications, deletions, genetic recombinations and mutations leading to loss or gain of function). Aberrations lead to an abnormal behaviour common to all neoplastic cells: irregular growth, absence of contact inhibition, genomic instability and likelihood of metastasis. The genes which can undergo mutations in cancer can be divided into two main classes: genes which undergo „gain of function” mutations, known as oncogenes, and genes which present in both alleles „loss of function” mutations, known as tumour suppressor genes. Cancer may appear due to aberrations of the various genetic combinations, which can be mutant, overexpressed or eliminated. In several types of cancer, the biomarkers have improved our capacity of diagnosis, prognosis, treatment and prediction. In general, an adequate biomarker should be useful for the definition and identification of the risks during the first stages of carcinogenesis. Moreover, biomarkers can be analysed in a non-invasive, economical manner and, consequently, we should invest the search for more biomarkers. The methods used to determine the presence and staging of cancer are: immunofluorescence, Multiplex Ligation-dependent Probe Amplification (MLPA), immunohistochemistry (p53 sequencing).
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