Non-brca germline pathogenic variants in breast cancer patients tested at the University Hospital Center Zagreb (CROSBI ID 736902)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Lonjak, Nikolina ; Kanceljak, Kristina ; Šabarić, Viktor ; Silovski, Tajana ; Dedić Plavetić, Natalija ; Žigman, Tamara ; Rako, Ivana ; Gotovac Jerčić, Kristina ; Borovečki, Fran
engleski
Non-brca germline pathogenic variants in breast cancer patients tested at the University Hospital Center Zagreb
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.
breast cancer, BRCA, genetic testing
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Podaci o prilogu
102-103.
2020.
objavljeno
Podaci o matičnoj publikaciji
Podaci o skupu
13. hrvatski onkološki kongres
poster
03.09.2020-06.09.2020
online;