Page 13 - ABSTRAKTI SDIR3

LECTURES

ROUND TABLE: PRECISION MEDICINE IN ONCOLOGY:

CURRENT PERSPECTIVE

Somatic mutations testing in clinical practice:
Serbian experience

Radmila Janković
Institute of Oncology and Radiology of Serbia, Belgrade, Serbia

The completion of the Human Genome Project in 2003 allowed the implementa-
tion of genomic medicine in clinical practice. Cancer was shown to be a disease
of the genome with different hallmarks including genome instability and an accu-
mulation of somatic mutations. While cancers are characterized by numerous ge-
nomic aberrations, some acquired mutations may be sufficient to induce growth
and impaired differentiation leading to cancer development. This powerful so-
matic effect has been commonly described as a driver mutation and the overall
phenomenon as oncogene addiction. Oncogene addiction becomes the rationale
LECTURES for targeted therapy of solid tumours. The introduction of personalized thera-
py transformed the care of selected cancer patients: detection of critical cancer
gene somatic mutations in clinical tumor samples better defines patient diagnosis,
prognosis and more importantly indicates highly efficient targeted therapies with
both health and economic benefits. Targeted therapies for advanced lung cancer,
SDIR - 3 melanoma, colorectal cancer and gastrointestinal stromal tumour are examples
of success stories that have resulted from the translation of scientific knowledge
gained into informed choices in cancer treatments.
The applications of somatic DNA testing in cancer face many challenges such as
obtaining a reliable genotyping result with limited DNA being available, and deliv-
ering an accurate report in a timely fashion without false-negative and false-pos-
1
itive results.
A centralized pharmacogenetics service was formed at the Institute for Oncology