BRCA1 and BRCA2 sequence variability in normal population in Croatia (CROSBI ID 537240)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa
Podaci o odgovornosti
Musani, Vesna ; Levačić Cvok, Mirela ; Čretnik, Maja ; Ozretić, Petar ; Godan, Ana ; Marković, Maja ; Levanat, Sonja
engleski
BRCA1 and BRCA2 sequence variability in normal population in Croatia
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.
BRCA1 ; BRCA2 ; polymorphisms
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Podaci o prilogu
P0505
2007.
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objavljeno
Podaci o matičnoj publikaciji
European journal of human genetics
Nature publishing group
1018-4813
1476-5438
Podaci o skupu
European Human Genetics Conference 2007
poster
16.06.2007-19.06.2007
Nica, Francuska
Povezanost rada
Temeljne medicinske znanosti