Molecular diagnostic techniques in cancer

Authors

  • Sergio Alonso Institut de Medicina Predictiva i Personalitzada del Càncer
  • Andreu Alibés Institut de Medicina Predictiva i Personalitzada del Càncer
  • Manuel Perucho 1. Institut de Medicina Predictiva i Personalitzada del Càncer (IMPPC). 2 Institució Catalana de Recerca i Estudis Avançats (ICREA)

Keywords:

cancer, molecular diagnostics, mutation, techniques, sequencing.

Abstract

Neoplastic transformation is caused by the consecutive accumulation of genetic and epigenetic alterations providing selective growth advantages to cancer cells, ultimately leading to tumor development by clonal selection and evolution. This study aims to provide an overview of several epigenetic and genetic alteration diagnostic techniques commonly used in basic research in the molecular study of human cancers, some of which are currently implemented or are close to implementation in the clinical setting. Among the techniques for detecting genetic alterations we describe those that identify chromosomic alterations and point mutations. Among the methods of detecting epigenetic alterations we describe those that deal with somatic changes in DNA methylation.

Keywords: cancer, molecular diagnostics, mutation, techniques, sequencing.

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