NOTI-GENÉTICA: Oncología de precisión

NOTI-GENETICS-Oncology precision

By: Dr. Gildardo Fco. Zafra de la Rosa.

Genomic medicine has discovered multiple molecular alterations in cancer, which can be identified at the moment thanks to molecular biology, allowing an accurate diagnosis, a prognosis, more defined and a personalized treatment, which we know as oncology precision.

As an example, we have a better definition of the single nucleotide Polymorphisms (SNIPs), which have shown a large number of variants in the human, the most common are benign and rare, are associated with human pathology.

It has recently been recognized with greater accuracy the effect of the mutations in repair genes. When there's a mutation in these regions, is activated by diverse molecular mechanisms to stop the cell cycle and allow for repair of the damage. Mutations in the genes tumor suppressor genes BRCA1 and BRCA2, in normal conditions reduce the possibility of a normal cell to become cancerous, inhibiting cell proliferation and excessive cell death. These mutations generate genomic instability, allowing the cell to escape from senescence and apoptosis and that continue to proliferate with a damaged DNA.

The knowledge of these mechanisms has allowed the development of drugs selective targeting to block enzymes that are involved in the survival of cancer cells, as is the case of PARP inhibitors, which prevent the progress of deleterious mutations, inhibiting excessive cell proliferation and promoting the apoptosis of damaged cells.