Genetyka i onkologia (część trzecia). Podstawy medycyny personalizowanej raka jelita grubego.

Abstract

Personalised treatment which is a dynamically developing branch of medicine, is based on individualisation of diagnostic and therapeutic procedures. Its aim is to optimise treatment by increasing therapy effectiveness, while minimising side effects. It is designed both for patients with a diagnosed hereditary cancer syndrome, as well as those with sporadic cancers. In the case of a diagnosed colorectal cancer, personalised treatment requires patient selection based on predictive factors. This involves determination of the genetic status within the epidermal growth factor receptor (EGFR) signalling pathway, including assessment of the cancer tissue genotype with respect to RAS gene mutations ( KRAS , NRAS ) and BRAF gene mutations. In patients who do not respond to anti-EGFR targeted therapy, chemotherapy aimed at vascular endothelial growth factor (VEGF) is introduced. In personalised medicine it is also essential to introduce prophylactic and therapeutic measures, both in carriers of germline mutations, and members of their families who have not been diagnosed with this mutation, but who meet family history and clinical criteria of hereditary cancer syndrome.