Pregled bibliografske jedinice broj: 263928
Polymorphisms of BRCA1 and BRCA2 genes in normal population
Polymorphisms of BRCA1 and BRCA2 genes in normal population // Congress of the Croatian Society of Biochemistry and Molecular Biology on the occasion of the 30th anniversary with international participation : book of abstracts / Kovarik, Zrinka (ur.).
Zagreb: Hrvatsko društvo za biokemiju i molekularnu biologiju (HDBMB), 2006. str. 82-82 (predavanje, nije recenziran, sažetak, znanstveni)
CROSBI ID: 263928 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Polymorphisms of BRCA1 and BRCA2 genes in normal population
Autori
Levačić Cvok, Mirela ; Musani, Vesna ; Čretnik, Maja ; Levanat, Sonja
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Congress of the Croatian Society of Biochemistry and Molecular Biology on the occasion of the 30th anniversary with international participation : book of abstracts
/ Kovarik, Zrinka - Zagreb : Hrvatsko društvo za biokemiju i molekularnu biologiju (HDBMB), 2006, 82-82
ISBN
9539555108
Skup
Congress of the Croatian Society of Biochemistry and Molecular Biology on the occasion of the 30th Anniversary
Mjesto i datum
Vodice, Hrvatska, 03.10.2006. - 07.10.2006
Vrsta sudjelovanja
Predavanje
Vrsta recenzije
Nije recenziran
Ključne riječi
BRCA1 ; BRCA2 ; polymorphism ; melting profile
Sažetak
Breast cancer is the most frequent malignancy, with 10% of cases attributable to familial inheritance. Hereditary breast cancer is characterised by an inherited susceptibility to breast cancer, which is based on an idenified germline mutation in one allele of a high penetrance susceptibility genes BRCA1 and 2, which are acting as tumor suppressors. They are only genes known to be mutated in familial history of breast cancer. Their main contribution to tumorigenesis is inactivation of the second allele and consequently nonfunctional tumor suppression, which would be an early event in tumorigenic pathway. First step in our study of hereditary breast cancer and inherited susceptibility to breast cancer is to establish a database on BRCA1 and 2 haplotypes in healthy population. Among a wide range of conventional screening methods based on confromational polymorphisms we decided to use procedures based on higr-resolution melting approach. PCR products with fluorescent dye are melted in a High-resolution melter apparatus, giving high-resolution melting curves which show one profile for wild-type samples and a different one if a polymophism or a mutation is present. Result of BRCA1 analysis on over 100 samples of all 24 exons of the gene showed polymorphisms in at least 11 exons. Exons 8, 16 and 17 showed polymorphic patterns in 40-45% of analyzed samples.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
