Naslov
BRCA1 and BRCA2 sequence variability in normal population in Croatia

Autori
Musani, Vesna ; Levačić Cvok, Mirela ; Čretnik, Maja ; Ozretić, Petar ; Godan, Ana ; Marković, Maja ; Levanat, Sonja

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

Izvornik
European Human GeneticsConference 2007 : abstracts // European Journal of Human Genetics 15 (Suppl. 1) / - : Nature publishing group, 2007

Skup
European Human Genetics Conference 2007

Mjesto i datum
Nica, Francuska, 16.06.2007. - 19.06.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
BRCA1 ; BRCA2 ; polymorphisms

Sažetak
Hereditary breast cancer is characterized by an inherited susceptibility to breast cancer. The main candidates are BRCA1 and BRCA2 genes, which are acting as tumor suppressors, and are only genes known to be mutated in familial history of breast cancer. In familial cases an individual already carries a mutation in one of the alleles. Tumorigenesis is a result of inactivation of the second allele. We are analyzing distribution of polymorphic variants of BRCA1 and BRCA2 genes in normal population to establish the reference values in healthy population, since no such screening has been undertaken in Croatia. We assume that by evaluating polymorphic forms of BRCA1 and BRCA2 predisposition to breast and ovarian cancer can be estimated. Among a wide range of conventional mutation scanning methods based on conformational polymorphisms, we decided to use procedures based on high resolution melting approach and heteroduplex formation that give different melting profile and fluorescence, according to polymorphic or mutational variant. This analysis is contributing to a program of an early detection and prevention of breast cancer in Croatia with intention of forming a database of a high penetrance susceptibility genes BRCA1 and BRCA2.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA