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11.
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
Vida Stegel, Ana Blatnik, Erik Škof, Vita Šetrajčič Dragoš, Mateja Krajc, Brigita Gregorčič, Petra Škerl, Ksenija Strojnik, Gašper Klančar, Marta Banjac, Janez Žgajnar, Maja Ravnik-Oblak, Srdjan Novaković, 2022, izvirni znanstveni članek

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
Objavljeno v DiRROS: 06.09.2022; Ogledov: 483; Prenosov: 266
.pdf Celotno besedilo (2,35 MB)
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Vloga molekularne diagnostike pri raku jajčnikov
Vida Stegel, Srdjan Novaković, 2021, objavljeni povzetek znanstvenega prispevka na konferenci

Ključne besede: rak jajčnikov, molekularna diagnostika, laboratorijski izvidi
Objavljeno v DiRROS: 16.06.2021; Ogledov: 1006; Prenosov: 483
.pdf Celotno besedilo (9,91 MB)
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14.
Dokazovanje mutacij v BRCA1 genu z analizo talitvene krivulje PCR produktov
Srdjan Novaković, Vida Stegel, Mateja Krajc, Janez Žgajnar, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Katarina Lokar, 2006, objavljeni znanstveni prispevek na konferenci

Objavljeno v DiRROS: 17.09.2019; Ogledov: 2335; Prenosov: 586
.pdf Celotno besedilo (184,79 KB)

15.
Dedni rak širokega črevesa
Mateja Krajc, Janez Žgajnar, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Katarina Lokar, Srdjan Novaković, Vida Stegel, 2006, objavljeni strokovni prispevek na konferenci

Objavljeno v DiRROS: 17.09.2019; Ogledov: 1998; Prenosov: 530
.pdf Celotno besedilo (279,72 KB)

16.
Priprava hibridomov iz monocitov in tumorskih celic
Vida Stegel, Andreja Nataša Kopitar, Srdjan Novaković, 2004, objavljeni povzetek strokovnega prispevka na konferenci

Objavljeno v DiRROS: 17.09.2019; Ogledov: 2260; Prenosov: 520
.pdf Celotno besedilo (90,08 KB)

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Detekcija telomerazne mRNA v plazmi bolnic s karcinomom dojke
Vida Stegel, Janez Žgajnar, Srdjan Novaković, 2004, objavljeni povzetek strokovnega prispevka na konferenci

Objavljeno v DiRROS: 16.09.2019; Ogledov: 1949; Prenosov: 441
.pdf Celotno besedilo (84,74 KB)

19.
Dedni rak dojk in jajčnikov
Janez Žgajnar, Mateja Krajc, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Katarina Lokar, Srdjan Novaković, Vida Stegel, Miljeva Rener, Aleš Vakselj, 2006, objavljeni strokovni prispevek na konferenci

Objavljeno v DiRROS: 16.09.2019; Ogledov: 1667; Prenosov: 457
.pdf Celotno besedilo (213,19 KB)

20.
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