Naslov
Novel BRCA1 and BRCA2 pathogenic mutations in families with hereditary predisposition to breast and ovarian cancer in Croatia

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

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

Izvornik
Periodicum biologorum VOL. 114, Suppl 1 / Levanat, Sonja ; Levačić Cvok, Mirela ; Musani, Vesna ; Car, Diana Car ; Osmak, Maja ; Herak Bosnar, Maja ; Slade, Neda ; Stojanović, Nikolina - Zagreb : Hrvatsko prirodoslovno društvo, 2012, 34-34

Skup
HDIR-2: Second Meeting of the Croatian Association for Cancer Research with International Participation "From Bench to Clinic"

Mjesto i datum
Zagreb, Hrvatska, 08.11.2012. - 09.11.2012

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Domaća recenzija

Ključne riječi
BRCA1/2; breast/ovarian cancer; cancer predisposition

Sažetak
Breast cancer is one of the main causes of cancer-associated deaths in women. About 5-15% of all breast and/or ovarian cancer cases are hereditary, and germline mutations in BRCA1 and BRCA2 play a major role in the hereditary susceptibility for this disease. Mutations are scattered throughout both genes and include disease-causing mutations as well as unclassified variants. The purpose of this study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1 and BRCA2 genes in high risk women in Croatia. BRCA1 and BRCA2 genes from 167 candidates (145 families) were scanned for mutations using high-resolution melting analysis (HRMA), direct sequencing and quantitative multiplex PCR of short fluorescent fragments (QMPSF). We identified 14 pathogenic point mutations in 17 candidates, 9 in BRCA1 and 5 in BRCA2. Of those, 11 have been previously described and three were novel. No large deletions or duplications involving BRCA1 and BRCA2 genes were identified. Combination of QMPSF and HRMA methods provides high detection rate and complete coverage of BRCA1 and BRCA2 genes. This is the first molecular investigation of the hereditary predisposition to breast and ovarian cancer in BRCA1 and BRCA2 genes in Croatia. 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 for the Croatian population. 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

POVEZANOST RADA