Naslov
BRCA1 and BRCA2 polymorphism screening in healthy women in Croatia

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

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

Izvornik
Sažeci Četvrtog hrvatskog kongresa iz humane genetike s međunarodnim sudjelovanjem / Paediatria Croatica 51 (Suppl.) / Barišić, Ingeborg - Zagreb : Klinika za dječje bolesti, 2007, 163-163

Skup
Četvrti hrvatski kongres iz humane genetike

Mjesto i datum
Malinska, Hrvatska, 18.10.2007. - 20.10.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
BRCA1 ; BRCA2 ; polymorphism ; high-resolution melting

Sažetak
BRCA1 and BRCA2 are the major genes predisposing to breast and ovarian cancer. Mutations in either of these tumor suppressor genes are associated with both sporadic and hereditary forms of breast cancer. In hereditary cancer, a person inherits one mutated copy of either one of these genes. Tumorigenesis occurs when in addition to having a mutated copy individual develops an inactivating mutation of the remaining healthy allele. Breast cancer is the most common malignant disease of female population, and the second most common malignancy-related cause of death. At least ten percent of cases are attributable to familial inheritance. In Croatia, more than 2200 new cases of breast cancer are diagnosed each year, and about 800 women die of this malignancy. We analyzed the distribution and occurrence of polymorphisms in BRCA1 and BRCA2 genes on a healthy population of women in Croatia in an attempt to distinguish non-tumorigenic from tumorigenic changes in genomic sequences of BRCA1 and BRCA2 genes. This will contribute to easier distinction of potentially dangerous from harmless changes in patients with family history of breast cancer. From a wide range of conventional mutation screening methods based on conformational polymorphisms, we decided to use the procedures based on high resolution melting approach. In total, we analyzed 230 samples for BRCA1 gene and 140 samples for BRCA2 gene. We found 20 different polymorphisms of BRCA1 and 35 of BRCA2 gene.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA