Nasledni kancer: molekularni markeri i njihova detekcija

Abstract. Majority of cancers arise as a result of acquired genetic alterations and are considered as sporadic or random. However, proportionally small part of the malignant tumors arises as a consequence of inherited germline mutations which are transmitted according to Mendel's laws, vertically from parents to offspring. This type of cancer is called hereditary cancer. Unlike sporadic cancers of the same anatomic localization, hereditary cancer predominantly occurs in younger age and therefore has great medical and socioeconomic importance. It has been discovered that a large number of different malignant tumors (especially carcinomas) have strong inherited component, including breast cancer, ovarian cancer, familial polyposis, nonpolyposis colorectal cancer, medullary thyroid cancer, hereditary renal cell carcinoma, diffuse gastric cancer etc. Most of the genes responsible for hereditary predisposition belong to the tumor suppressor genes. A large number of mutations have been reported in these genes, but new gene variants have constantly been discovered. Therefore, sequencing the whole coding regions of these genes still represents the method of choice for hereditary cancer detection. The ability to characterize patients based on alterations in important cellular processes that result from gene mutations enables better prevention and development of targeted therapies for specific malignant diseases, which should contribute to the individualization of anticancer treatment.