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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 [Elektronski vir]Stegel, Vida ...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.Vir: Cancers [Elektronski vir]. - ISSN 2072-6694 (Vol. 14, no. 6, Mar. 2022, str. 1434-1-1434-17)Vrsta gradiva - e-članekLeto - 2022Jezik - angleškiCOBISS.SI-ID - 100563715
Avtor
Stegel, Vida |
Blatnik, Ana, 9.8.1980- |
Škof, Erik |
Šetrajčič Dragoš, Vita |
Krajc, Mateja |
Gregorčič, Brigita |
Škerl, Petra, doktorica biologije |
Strojnik, Ksenija |
Klančar, Gašper, 1988- |
Banjac, Marta |
Žgajnar, Janez, 1963- |
Ravnik-Oblak, Maja |
Novaković, Srdjan
Teme
BRCA |
rak jajčnikov |
genotip tumorja |
HBOC |
BRCA |
ovarian cancer |
tumor genotyping |
HBOC
Avtor | Stegel, Vida ... |
Naslov | 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 [Elektronski vir] |
Datum objave | 2022-03-10 |
COBISS.SI-ID | 100563715 |
Verzija objave v repozitoriju | Založnikova različica |
Licenca objave v repozitoriju | Creative Commons Priznanje avtorstva 4.0 Mednarodna |
Embargo | Takojšnja javna objava |
Projekti, iz katerih je bila financirana objava
Naziv | Akronim | Številka projekta | Financer |
---|---|---|---|
Družine s povišano ali visoko ogroženostjo za raka: svetovanje, odkrivanje mutacij in preprečevanje raka | P3-0352-2018 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
Datoteke, ki spadajo k objavi
Povezava |
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https://www.mdpi.com/2072-6694/14/6/1434 |
https://dirros.openscience.si/IzpisGradiva.php?id=15446 |
Stroški objave
Vrsta stroška | Skupni stroški | Plačila |
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APC – strošek objave članka | 2640.21 € |
2640.21 € : Onkološki inštitut Ljubljana |
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Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Stegel, Vida | 23343 |
Blatnik, Ana, 9.8.1980- | 32428 |
Škof, Erik | 24572 |
Šetrajčič Dragoš, Vita | 51870 |
Krajc, Mateja | 27594 |
Gregorčič, Brigita | |
Škerl, Petra, doktorica biologije | 28388 |
Strojnik, Ksenija | 51869 |
Klančar, Gašper, 1988- | 34575 |
Banjac, Marta | 55278 |
Žgajnar, Janez, 1963- | 12767 |
Ravnik-Oblak, Maja | 01993 |
Novaković, Srdjan | 08007 |
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