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izvor podataka: crosbi

BRCA1 and BRCA2 sequence variability in normal population in Croatia (CROSBI ID 537240)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa

Musani, Vesna ; Levačić Cvok, Mirela ; Čretnik, Maja ; Ozretić, Petar ; Godan, Ana ; Marković, Maja ; Levanat, Sonja BRCA1 and BRCA2 sequence variability in normal population in Croatia // European journal of human genetics. 2007

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.

nije evidentirano

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

Poveznice
Indeksiranost