Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing

Autor:	Vida Stegel, Ana Blatnik, Erik Škof, Vita Šetrajčič Dragoš, Mateja Krajc, Brigita Gregorič, Petra Škerl, Ksenija Strojnik, Gašper Klančar, Marta Banjac, Janez Žgajnar, Maja Ravnik, Srdjan Novaković
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	Cancer Research udc:616-07 endocrine system diseases HBOC BRCA tumor genotyping genotip tumorja female genital diseases and pregnancy complications ovarian cancer Oncology BRCA rak jajčnikov genotip tumorja HBOC BRCA ovarian cancer tumor genotyping HBOC rak jajčnikov germline genotyping PARP inhibitors reverse mutation
Zdroj:	Cancers; Volume 14; Issue 6; Pages: 1434 Cancers, vol. 14, no. 6, pp. 1434-1-1434-17, 2022. Cancers, str. 1434-1-1434-17, Vol. 14, no. 6, Mar. 2022 COBISS-ID: 517914137
ISSN:	2072-6694
DOI:	10.3390/cancers14061434
Popis:	Detection of germline and somatic pathogenic/likely pathogenic variants (PV/LPV) in BRCA genes is at the moment a prerequisite for use of PARP inhibitors in different treatment settings of different tumors. The aim of our study was to determine the most appropriate testing workflow in epithelial ovarian cancer (EOC) patients using germline and tumor genotyping of BRCA and other hereditary breast and/or ovarian cancer (HBOC) susceptibility genes. Consecutive patients with advanced non-mucinous EOC, who responded to platinum-based chemotherapy, were included in the study. DNA extracted from blood and FFPE tumor tissue were genotyped using NGS panels TruSightCancer/Hereditary and TruSight Tumor 170. Among 170 EOC patients, 21.8% had BRCA germline or somatic PV/LPV, and additionally 6.4% had PV/LPV in other HBOC genes. Sensitivity of tumor genotyping for detection of germline PV/LPV was 96.2% for BRCA genes and 93.3% for HBOC genes. With germline genotyping-only strategy, 58.8% of HBOC PV/LPV and 68.4% of BRCA PV/LPV were detected. By tumor genotyping-only strategy, 96.1% of HBOC PV/LPV and 97.4% of BRCA PV/LPV were detected. Genotyping of tumor first, followed by germline genotyping seems to be a reasonable approach for detection of PV/LPV in breast and/or ovarian cancer susceptibility genes in non-mucinous EOC patients. Nasl. z nasl. zaslona. Opis vira z dne 12. 3. 2022. Bibliografija na koncu prispevka. Abstract.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c8c4cd2e0e536a995b9fc93483d5af Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.