Naslov
BRCA1 and BRCA2 germline mutations in women in Croatia with hereditary predisposition to breast and ovarian cancer

Autori
Levačić Cvok, Mirela ; Musani, Vesna ; Sušac, Ilona ; Ozretić, Petar ; Sabol, Maja ; Car, Diana ; Eljuga, Domagoj ; Eljuga, Ljerka ; Levanat, Sonja

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

Izvornik
Final Program and Abstracts of The 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine / Schanfield, Moses ; Primorac, Dragan ; Vuk-Pavlović, Stanimir - Zagreb : International Society for Applied Biological Sciences (ISABS), 2011, 256-256

Skup
FIFTH CROATIAN CONGRESS ON HUMAN GENETICS

Mjesto i datum
Bol, Hrvatska, 20.06.2011. - 21.06.2011

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
hereditary breast cancer; BRCA1 gene; BRCA2 gene; population genetics; genetic epidemiology

Sažetak
Epidemiological data indicates 5-15% of all breast cancer cases are hereditary, and germline mutations in Breast Cancer Gene 1 (BRCA1) and Breast Cancer Gene 2 (BRCA2) account for the majority of hereditary breast and ovarian cancers. The contribution of BRCA1 and BRCA2 mutations to hereditary breast and ovarian cancer in Croatia is unknown. The aim of our study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1 and BRCA2 genes in high risk women in Croatia. The screening was performed by high resolution melting approach, direct sequencing and semi-quantitative multiplex PCR method (Cvok et al. Clin Chem Lab Med 2008 ; 46(10):1376-83). Protocols were certified by EMQN (European Molecular Genetics Quality Network). The complete coding sequences and exon-intron boundaries analyses of both genes were carried out on 142 women with hereditary predisposition to breast and ovarian cancer. Overall, 11 pathogenic mutations were detected, two novel in BRCA1, and three novel in BRCA2. Nineteen BRCA1 and 33 BRCA2 unclassified variants and polymorphisms were also identified, of which two BRCA1 and seven BRCA2 were not previously published. This is the first molecular investigation of the hereditary predisposition to breast and ovarian cancer in Croatia based on BRCA1 and BRCA2 genes. Samples were collected from different regions of the country and the level of pathogenic mutations and distribution of polymorphic variants will contribute to population statistics. This study was funded by The Terry Fox Run 2009 donation and supported by The Terry Fox Foundation and Croatian League Against Cancer.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA