Naslov
Non-brca germline pathogenic variants in breast cancer patients tested at the University Hospital Center Zagreb

Autori
Lonjak, Nikolina ; Kanceljak, Kristina ; Šabarić, Viktor ; Silovski, Tajana ; Dedić Plavetić, Natalija ; Žigman, Tamara ; Rako, Ivana ; Gotovac Jerčić, Kristina ; Borovečki, Fran

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

Izvornik
Libri oncologici / - , 2020, 102-103

Skup
13. Hrvatski onkološki kongres

Mjesto i datum
Opatija, Hrvatska, 03.09.2020. - 06.09.2020

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
breast cancer, BRCA, genetic testing

Sažetak
Genetic testing is a powerful tool that allows detection of BRCA and non-BRCA germline pathogenic variants in breast cancer (BC) patients or in individuals at high risk of BC. Inherited pathogenic variants (PV) in genes related with moderate to high risk of BC may explain up to 50% of familial BC. Although established for BRCA pathogenic variants, indications and interpretations of genetic testing in non-BRCA pathogenic variants are not well defined. The aim of the study was identification of inherited PV of non-BRCA pathogenic variants in BC patients tested at the University Hospital Center (UHC) Zagreb. Identifying germline pathogenic variants in women with BC is important because it can influence their immediate and long-term management and has important implications on other family members. Multigene panel findings are likely to change clinical practice for substantially more patients than BRCA1/2 testing alone. For a large proportion of the genes included in hereditary cancer gene panels, clinical guidelines are to be established.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA