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BRCA1 and BRCA2 germline mutations in women in Croatia with hereditary predisposition to breast and ovarian cancer (CROSBI ID 574194)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija

Levačić Cvok, Mirela ; Musani, Vesna ; Sušac, Ilona ; Ozretić, Petar ; Sabol, Maja ; Car, Diana ; Eljuga, Domagoj ; Eljuga, Ljerka ; Levanat, Sonja BRCA1 and BRCA2 germline mutations in women in Croatia with hereditary predisposition to breast and ovarian cancer // 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 (ur.). Zagreb: International Society for Applied Biological Sciences (ISABS), 2011. str. 256-256

Podaci o odgovornosti

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

engleski

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

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.

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

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Podaci o prilogu

256-256.

2011.

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objavljeno

Podaci o matičnoj publikaciji

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)

Podaci o skupu

FIFTH CROATIAN CONGRESS ON HUMAN GENETICS

predavanje

20.06.2011-21.06.2011

Bol, Hrvatska

Povezanost rada

Temeljne medicinske znanosti, Kliničke medicinske znanosti