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Cancer genetics: how genes influence the development of cancer
What is cancer genetics?
Cancer genetics is a branch of medicine and biology that studies changes in DNA that can lead to the formation of malignant tumors. These changes, or mutations, occur in genes responsible for control of cell growth, division, and repair. When these mechanisms are disrupted, cells begin to divide uncontrollably, which becomes the basis for the development of cancer.
Oncological diseases can occur as due to hereditary (germline) mutations, and as a result of acquired DNA damage throughout life - under the influence of external factors (radiation, chemicals, viruses, etc.).
Key genes associated with cancer
| Gene group | Function | Examples |
|---|---|---|
| Oncogenes | Stimulate cell division | HER2, KRAS, BRAF |
| Tumor suppressor genes | Inhibit growth or cause cell death | TP53, BRCA1, BRCA2 |
| Repair genes | Responsible for DNA repair | MLH1, MSH2, ATM |
| Genome stability genes | Supports proper cell division | CHEK2, RAD51 |
When a mutation occurs in oncogenes, they begin to “push” the cell to divide. If the work of suppressor genes is disrupted, the cell loses control over this process.
Hereditary cancer: who is at risk
Close 5–10% of all cancers are hereditary. This means that the mutation is already present in all cells of the body from the moment of birth and can be passed on to subsequent generations. The most well-known hereditary forms are:
Breast and ovarian cancer (BRCA1, BRCA2)
Lynch syndrome (colorectal cancer, endometrial cancer)
Retinoblastoma in children
Familial thyroid cancer (RET mutations)
Genetic testing allows us to detect these mutations before the onset of the disease and take preventive measures.
How genetic testing for cancer works
Genetic testing can be performed:
with a family history of oncology
as part of personalized treatment
to identify risks in healthy people
The procedure includes:
Collecting a blood or saliva sample
DNA analysis by sequencing method
Interpretation of results geneticist
Recommendations regarding screening, prevention or treatment
The impact of genetics on cancer treatment
Knowing the mutations in a particular patient allows:
choose targeted therapy (drugs that act on specific genetic disorders)
avoid ineffective chemotherapy regimens
predict response to treatment
determine the risk of developing cancer again or with relatives
Example: A patient with lung cancer with a mutation in the EGFR gene receives targeted EGFR inhibitors rather than classical chemotherapy.
Genetics and the future of oncology
Today, genetic testing is no longer just a diagnostic tool, but the basis of personalized medicine. In the future:
the tests will be more accessible to the general public
doctors will be able to predict the risks of developing cancer even before the first changes in cells
immune and targeted therapies will adapt to a specific mutational profile
will be developed vaccines against genetic cancer variants
Cancer genetics is the key to understanding, prevention and effective treatment of cancer. Timely detection of mutations gives a chance not only to avoid the disease, but also to defeat it with the least losses.
