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1.
Trends and timing of risk-reducing mastectomy uptake in unaffected BRCA1 and BRCA2 carriers in Slovenia
Taja Ložar, Janez Žgajnar, Andraž Perhavec, Ana Blatnik, Srdjan Novaković, Mateja Krajc, 2021, original scientific article

Abstract: Objectives. Risk-reducing mastectomy (RRM) is one of key prevention strategies in female carriers of germline BRCA pathogenic/likely pathogenic variants (PV/LPV). We retrospectively investigated the rate, timing and longitudinal trends of bilateral RRM uptake and the incidence and types of cancers among unaffected BRCA carriers who underwent genetic counseling at the Institute of Oncology Ljubljana in Slovenia. Materials and Methods. Female BRCA carriers without personal history of cancer were included in the study. Clinical data on PV/LPV type, date of RRM, type of reconstructive procedure, occult carcinoma and histopathology results was collected and analyzed. Results. Of the 346 unaffected BRCA carriers (median age 43 years, 70% BRCA1, 30% BRCA2, median follow-up 46 months) who underwent genetic testing between October 1999 and December 2019, 25.1% had a RRM (range 35-50 years, median age at surgery 38 years). A significant difference in time to prophylactic surgery between women undergoing RRM only vs. women undergoing RRM combined with risk-reducing salpingo-oophorectomy was observed (22.6 vs 8.7 months, p=0.0009). We observed an upward trend in the annual uptake in line with the previously observed Angelina Jolie effect. In 5.7% of cases, occult breast cancer was detected. No women developed breast cancer after RRM. Women who did not opt for surgical prevention developed BRCA1/2-related cancers (9.3%). Conclusion. The uptake of RRM among unaffected BRCA carriers is 25.1% and is similar to our neighboring countries. No women developed breast cancer after RRM while women who did not opt for surgical prevention developed BRCA1/2 related cancers in 9.3% of cases. The reported data may provide meaningful aid for carriers when deciding on an optimal prevention strategy.
Keywords: risk-reducing mastectomy, breast cancer, BRCA
Published in DiRROS: 21.09.2022; Views: 407; Downloads: 136
.pdf Full text (593,94 KB)

2.
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, original scientific article

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
Published in DiRROS: 06.09.2022; Views: 466; Downloads: 256
.pdf Full text (2,35 MB)
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3.
Izkušnje z zdravilom olaparib pri zdravljenju recidivnega epitelijskega raka jajčnikov z mutacijami v genih BRCA 1 in BRCA 2
Erik Škof, 2021, original scientific article

Abstract: Izhodišče: Zdravilo olaparib uporabljamo za vzdrževalno peroralno zdravljenje recidivnega epitelijskega raka jajčnikov z mutacijami v genih BRCA 1 in BRCA 2 pri bolnicah, ki se odzovejo na kemoterapijo s preparati platine. Namen: Prikazati varnost in učinkovitost zdravljenja s poli-ADP riboza polimeraznim (PARP) inhibitorjem olaparibom v redni klinični praksi v sklopu vzdrževalnega zdravljenja recidivnega epitelijskega raka jajčnikov z mutacijami v genih BRCA 1 in BRCA 2. Metode: V retrospektivno analizo smo vključili bolnice z recidivnim epitelijskim rakom jajčnikov z mutacijami v genih BRCA 1 in BRCA 2, ki so se začele zdraviti z olaparibom na Onkološkem inštitutu Ljubljana v obdobju od 1. novembra 2015 do 31. decembra 2020. Cilja raziskave sta bila oceniti varnost in učinkovitost zdravila olaparib (preživetje brez ponovitve bolezni, celokupno preživetje). Raziskavo je odobrila etična komisija na Onkološkem inštitutu Ljubljana. Rezultati: V opazovanem obdobju je bilo z olaparibom zdravljenih 88 bolnic z recidivnim epitelijskim rakom jajčnikov z mutacijami v genih BRCA 1 in BRCA 2. Mediana starost bolnic je bila 60 let. Večina (61 %) je imela prvi recidiv bolezni, prav tako večina (74 %) je imela tudi zarodno mutacijo v genu BRCA 1. Večina bolnic (85 %) je nadalje imela vsaj en neželeni učinek zdravljenja z olaparibom. Najpogostejši (vse stopnje) so bili: slabost (59 %), utrujenost (59 %), anemija (25 %), dispepsija (14 %), tekoče blato (11 %), spremembe okusa (10 %), nevtropenija (6 %) in aritmija (1 %). Resne neželene učinke (stopnje 3/4) je imelo 10 % bolnic: pojavljali sta se anemija (9 %) in slabost (1 %). Mediani čas sledenja je bil 40 mesecev. Mediano preživetje brez ponovitve bolezni je bil 14,3 meseca, mediano celokupno preživetje pa 20,4 meseca. Preživetje brez napredovanja bolezni je bilo odvisno od vrste mutacije v genih BRCA: pri somatski mutaciji v genih BRCA 1/2 je bilo 80 % bolnic brez progresa bolezni, pri zarodni mutaciji BRCA 2 je bilo teh 55 % bolnic, pri zarodni mutaciji BRCA 1 pa 32 % (p = 0,021). Vrsta mutacije v genih BRCA 1/2 ni imela vpliva na celokupno preživetje bolnic.
Keywords: epitelijski rak jajčnikov, olaparib, BRCA 1/2, genska mutacija
Published in DiRROS: 10.06.2021; Views: 1064; Downloads: 318
.pdf Full text (121,58 KB)

4.
Olaparib za zdravljenje raka jajčnikov
Erik Škof, Ksenija Strojnik, 2016, dictionary, encyclopaedia, lexicon, manual, atlas, map

Keywords: rak jajčnikov, zaviralci PARP, olaparib, gen dovzetnosti za pojav raka dojk, BRCA
Published in DiRROS: 04.06.2020; Views: 1752; Downloads: 439
.pdf Full text (462,66 KB)

5.
Dedni rak dojk
Mateja Krajc, 2013, published professional conference contribution

Keywords: rak dojke, dednost, mutacije, BRCA 1/2
Published in DiRROS: 22.01.2020; Views: 2038; Downloads: 516
.pdf Full text (55,13 KB)

6.
Preventivna adneksektomija pri nosilkah mutacij genov BRCA1 in BRCA2
Sonja Bebar, Astrid Djurišić, Andreja Gornjec, Sebastjan Merlo, Aleš Vakselj, 2017, published scientific conference contribution

Keywords: ginekološka onkologija, rak jajčnikov, mutacije, gen BRCA
Published in DiRROS: 17.09.2019; Views: 2354; Downloads: 641
.pdf Full text (113,18 KB)

7.
Olaparib za zdravljenje raka jajčnikov
Erik Škof, 2019, dictionary, encyclopaedia, lexicon, manual, atlas, map

Abstract: Olaparib vam je zdravnik predpisal, ker gre pri vas za ponovitev bolezni in imate ugotovljeno mutacijo v genih BRCA 1 ali BRCA 2 (izraz BRCA je kratica, ki v slovenskem prevodu pomeni „gen dovzetnosti za pojav raka dojk“). Olaparib uporabljamo po zaključenem zdravljenju s standardno kemoterapijo na osnovi platine v primeru, ko se je bolezen odzvala na zdravljenje s kemoterapijo. Raziskave so namreč pokazale, da vzdrževalno zdravljenje z olaparibom upočasni ponovitev bolezni.
Keywords: rak jajčnikov, zaviralci PARP, olaparib, gen dovzetnosti za pojav raka dojk, BRCA
Published in DiRROS: 21.03.2019; Views: 2620; Downloads: 668
.pdf Full text (590,62 KB)

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