Naslov
Molekularna genetika raka dojke (sporadični i nasljedni oblik)
(Molecular genetics of breast cancer(sporadic and hereditary setting)

Autori
Levanat, Sonja

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Paediatria Croatica / Barišić, Ingeborg - Zagreb : Klinika za dječje bolesti, 2007, 159-159

Skup
4. hrvatski kongres iz humane genetike sa međunarodnim sudjelovanjem

Mjesto i datum
Malinska, Hrvatska, 18.10.2007. - 20.10.2007

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
rak dojke ; geni BRCA 1 i 2 ; nasljeđivanje
(breast cancer ; BRCA1 and 2 genes ; heredity)

Sažetak
Breast cancer tumorigenesis is a multistep process in which normal breast epithelium evolves via hyperplasia and carcinoma in situ into an invasive cancer, which eventually can disseminate via lymph and blood vascular system to form metastases, following main principals of malignancy through activation of receptors both at the cell surface and within the nucleus, targeting gene expression required for the breast cancer phenotype. The HER-2/neu gene is amplified and overexpressed in 20% to 30% of invasive breast carcinomas and is associated with increased metastatic potential. The breast cancer is a heterogenetic disease, many genes and proteins they code are involved in pathways to proliferate, divide, invase, metastasize, with main goal to survive, maintaining balance between proliferation and apoptosis, while other genes regulate expression of steroid receptors, cell adhesion molecules and angiogenic factors. While p53 is mutated in mostly all or at least 50 % of tumors, BRCA1 and recently 2 are more involved in breast cancer. BRCA 1 and 2 are DNA repair enzymes, they have role in complex interactions in chromatin remodeling , but also in checkpoint control and repair of double strand DNA. They are tumor suppressors, their mutations in hereditary breast cancer characterize an inherited susceptibility to breast cancer. On basis of an identified germline mutation in one allele of a high penetrance susceptibility genes (BRCA 1 and 2, p53), for 10-25 % of all breast cancers they can have a prognostic value. Although the majority of these cancers are result of somatic mutations, epidemiological data indicates that 5-10 % of all breast cancers are associated with inherited mutations in the autosomal tumor suppressor susceptibility genes BRCA1 and BRCA2. Based on our current and recent research in Croatia, we propose to establish a referent database on BRCA genes polymorphisms in Croatia. Using the polymorphism database, we shall be able to provide statistically more reliable information on overall polymorphism incidence and geographical distribution of polymorphisms. This will contribute to an early detection of disease familial predisposition. The immediate practical objective is to improve efficiency of genetic screening for inherited predisposition to breast cancer based on BRCA 1 and 2 genes.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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