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Title: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
Authors:ID Stegel, Vida (Author)
ID Blatnik, Ana (Author)
ID Škof, Erik (Author)
ID Šetrajčič Dragoš, Vita (Author)
ID Krajc, Mateja (Author)
ID Gregorčič, Brigita (Author)
ID Škerl, Petra (Author)
ID Strojnik, Ksenija (Author)
ID Klančar, Gašper (Author)
ID Banjac, Marta (Author)
ID Žgajnar, Janez (Author)
ID Ravnik-Oblak, Maja (Author)
ID Novaković, Srdjan (Author)
Files:URL URL - Source URL, visit https://www.mdpi.com/2072-6694/14/6/1434
 
.pdf PDF - Presentation file, download (2,35 MB)
MD5: DF9297614111EC2463CB1324BFEB404E
 
Language:English
Typology:1.01 - Original Scientific Article
Organization:Logo OI - Institute of Oncology
Abstract: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.
Keywords:BRCA, ovarian cancer, tumor genotyping, HBOC
Publication status:Published
Publication version:Version of Record
Publication date:01.03.2022
Year of publishing:2022
Number of pages:str. 1434-1-1434-17
Numbering:Vol. 14, no. 6
PID:20.500.12556/DiRROS-15446 New window
UDC:616-07
ISSN on article:2072-6694
DOI:10.3390/cancers14061434 New window
COBISS.SI-ID:100563715 New window
Copyright:by Authors
Note:Nasl. z nasl. zaslona; Opis vira z dne 12. 3. 2022;
Publication date in DiRROS:06.09.2022
Views:1141
Downloads:601
Metadata:XML DC-XML DC-RDF
:
STEGEL, Vida, BLATNIK, Ana, ŠKOF, Erik, ŠETRAJČIČ DRAGOŠ, Vita, KRAJC, Mateja, GREGORČIČ, Brigita, ŠKERL, Petra, STROJNIK, Ksenija, KLANČAR, Gašper, BANJAC, Marta, ŽGAJNAR, Janez, RAVNIK-OBLAK, Maja and NOVAKOVIĆ, Srdjan, 2022, 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. Cancers [online]. 2022. Vol. 14, no. 6, p. 1434-1-1434–17. [Accessed 10 April 2025]. DOI 10.3390/cancers14061434. Retrieved from: https://dirros.openscience.si/IzpisGradiva.php?lang=eng&id=15446
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Record is a part of a journal

Title:Cancers
Shortened title:Cancers
Publisher:MDPI
ISSN:2072-6694
COBISS.SI-ID:517914137 New window

Document is financed by a project

Funder:ARRS - Slovenian Research Agency
Project number:P3-0352-2018
Name:Družine s povišano ali visoko ogroženostjo za raka: svetovanje, odkrivanje mutacij in preprečevanje raka

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:06.09.2022

Secondary language

Language:Slovenian
Keywords:BRCA, rak jajčnikov, genotip tumorja, HBOC


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