Josip Juraj Strossmayer University of Osijek. Department of Chemistry. Department of Analytical, Organic and Applied Chemistry.
Abstract
Rak dojke je najčešća zloćudna bolest u žena u razvijenim zemljama svijeta. Iako mehanizam nastajanja raka dojke još uvijek nije u potpunosti razjašnjen, epidemiološka istraživanja utvrdila su razne rizične čimbenike za obolijevanje od ove bolesti, među kojima se razlikuju negenetski i genetski čimbenici. Utvrđeno je da dvije skupine gena imaju ključnu ulogu u indukciji raka, to su onkogeni i tumor supresorski geni. Danas je poznato deset tumor supresorskih gena, koji su uključeni u regulaciju genomskog sadržaja, povezanih s rakom dojke. Tu pripadaju TP53, BRCA1, BRCA2, ATM, RAD50, PTEN, APC, CDH1, RB i PALB2. Mutacije u BRCA1 i BRCA2 genima povezane su s obiteljskim nasljeđivanjem raka dojke, te predstavljaju visoki rizik ranog obolijevanja od ove bolesti. Iako se funkcije ovih gena znatno razlikuju svi su oni uključeni u popravke oštećenja DNA i održavanje genomske stabilnosti. Mutacije koje nastaju na tumor supresorskim genima uzrokuju gubitak njihove funkcije i moguće je da je upravo taj mehanizam ključan za razvoj raka dojke. U ovome radu pobliže ću opisati svojstva i funkcije nekih tumor supresorskih gena, njihov doprinos razvoju raka dojke, ujedno ću spomenuti ulogu hormona i negentetskih čimbenika te važnost tumorskih markera pri dijagnostici i liječenju ove zloćudne bolesti.Breast cancer is the most common malignant disease in women in developed countries in the world. Although the mechanism of breast cancer development has not yet been fully clarified, epidemiological research has identified various risk factors for the developmentof this disease, where the not genetic and genetic factors play a significant role. It was found that two groups of genes play a key role in inducing cancer, namely oncogenes and tumor suppressor genes. Today, ten tumor suppressor genes, involved in the regulation of genomic contents, are associated with breast cancer. These include TP53, BRCA1, BRCA2, ATM, RAD50, PTEN, APC, CDH1, RB and PALB2. Mutations in BRCA1 and BRCA2 genes are associated with family breast cancer syndrome, and represent a high risk of early breast cancer development. Although the functions of these genes differ significantly, they are all involved in DNA damage repair and maintainenc of genomic stability. Mutations occuring in tumor suppressor genes cause loss of their function and it is possible that this is the mechanism crucial to the development of breast cancer. In this paper I will describe in more detail the properties and functions of some tumor suppressor genes, their contribution to the development of breast cancer, as well as the role of hormones, external factors and the importance of tumor markers in the diagnosis and treatment of this malignant disease
