open access

Vol 71, No 1 (2021)
Review paper
Published online: 2021-02-05
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Fundamentals of personalised medicine in colorectal cancer

Gabriela Janus-Szymańska, Anna Doraczyńska-Kowalik, Marek Bębenek, Emilia Cisarz, Justyna Gil
DOI: 10.5603/NJO.2021.0010
·
Nowotwory. Journal of Oncology 2021;71(1):52-61.

open access

Vol 71, No 1 (2021)
Genetics and oncology
Published online: 2021-02-05

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.

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.

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Keywords

personalised medicine; colorectal cancer; hereditary cancer syndrome; germline mutation; somatic mutation; epidermal growth factor EGFR; RAS; BRAF

About this article
Title

Fundamentals of personalised medicine in colorectal cancer

Journal

Nowotwory. Journal of Oncology

Issue

Vol 71, No 1 (2021)

Article type

Review paper

Pages

52-61

Published online

2021-02-05

DOI

10.5603/NJO.2021.0010

Bibliographic record

Nowotwory. Journal of Oncology 2021;71(1):52-61.

Keywords

personalised medicine
colorectal cancer
hereditary cancer syndrome
germline mutation
somatic mutation
epidermal growth factor EGFR
RAS
BRAF

Authors

Gabriela Janus-Szymańska
Anna Doraczyńska-Kowalik
Marek Bębenek
Emilia Cisarz
Justyna Gil

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