Vol 70, No 4 (2020)
Review paper
Published online: 2020-07-27

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Genetics and oncology (part 1.). Fundamentals of genetic testing-based personalised medicine in oncology

Maria M. Sąsiadek1, Izabela Łaczmańska12, Adam Maciejczyk23, Rafał Matkowski23, Justyna Gil1
Nowotwory. Journal of Oncology 2020;70(4):144-149.


The dynamic development of genetics in recent decades has opened a new era in medicine. Understanding molecular mechanisms of multiple human diseases has laid the foundations for targeted medical care, based on knowledge of the basic pathogenesis of these diseases. This breakthrough is particularly evident in oncology because knowledge of the molecular basis of cancer leads to a change in the paradigm of medical care for the patients. Gradually, classification and treatment based only on organ location and histopathologic diagnosis is becoming outdated, and so is the classification considering clinical stage and malignancy of the tumour. Personalized treatment for individual patients based on the profile of genetic changes is increasingly common. Defining the genetic aetiology of neoplastic diseases was an achievement that allowed for division of neoplasms into sporadic ones and those which develop due to hereditary predisposition. It also enabled establishment of the molecular classification of neoplasms and more and more frequently – targeted treatment and precise clinical prognosis. This article is the first one in a series of articles written by oncologists and geneticists. We hope that this series will be helpful for oncologists in understanding genetic problems and for geneticists – in understanding oncologic issues.

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Nowotwory. Journal of Oncology