Digitalni repozitorij raziskovalnih organizacij Slovenije

Izpis gradiva
A+ | A- | Pomoč | SLO | ENG

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
Avtorji:ID Stegel, Vida (Avtor)
ID Blatnik, Ana (Avtor)
ID Škof, Erik (Avtor)
ID Šetrajčič Dragoš, Vita (Avtor)
ID Krajc, Mateja (Avtor)
ID Gregorčič, Brigita (Avtor)
ID Škerl, Petra (Avtor)
ID Strojnik, Ksenija (Avtor)
ID Klančar, Gašper (Avtor)
ID Banjac, Marta (Avtor)
ID Žgajnar, Janez (Avtor)
ID Ravnik-Oblak, Maja (Avtor)
ID Novaković, Srdjan (Avtor)
Datoteke:URL URL - Izvorni URL, za dostop obiščite https://www.mdpi.com/2072-6694/14/6/1434
 
.pdf PDF - Predstavitvena datoteka, prenos (2,35 MB)
MD5: DF9297614111EC2463CB1324BFEB404E
 
Jezik:Angleški jezik
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:Logo OI - Onkološki inštitut Ljubljana
Povzetek: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.
Ključne besede:BRCA, ovarian cancer, tumor genotyping, HBOC
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Datum objave:01.03.2022
Leto izida:2022
Št. strani:str. 1434-1-1434-17
Številčenje:Vol. 14, no. 6
PID:20.500.12556/DiRROS-15446 Novo okno
UDK:616-07
ISSN pri članku:2072-6694
DOI:10.3390/cancers14061434 Novo okno
COBISS.SI-ID:100563715 Novo okno
Avtorske pravice:by Authors
Opomba:Nasl. z nasl. zaslona; Opis vira z dne 12. 3. 2022;
Datum objave v DiRROS:06.09.2022
Število ogledov:1132
Število prenosov:593
Metapodatki: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 in 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 [na spletu]. 2022. Vol. 14, no. 6, p. 1434-1-1434–17. [Dostopano 6 april 2025]. DOI 10.3390/cancers14061434. Pridobljeno s: https://dirros.openscience.si/IzpisGradiva.php?lang=slv&id=15446
Kopiraj citat
  
Objavi na:Bookmark and Share


Postavite miškin kazalec na naslov za izpis povzetka. Klik na naslov izpiše podrobnosti ali sproži prenos.

Gradivo je del revije

Naslov:Cancers
Skrajšan naslov:Cancers
Založnik:MDPI
ISSN:2072-6694
COBISS.SI-ID:517914137 Novo okno

Gradivo je financirano iz projekta

Financer:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:P3-0352-2018
Naslov:Družine s povišano ali visoko ogroženostjo za raka: svetovanje, odkrivanje mutacij in preprečevanje raka

Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Začetek licenciranja:06.09.2022

Sekundarni jezik

Jezik:Slovenski jezik
Ključne besede:BRCA, rak jajčnikov, genotip tumorja, HBOC


Nazaj