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192. Trends and timing of risk-reducing mastectomy uptake in unaffected BRCA1 and BRCA2 carriers in SloveniaTaja 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: 500; Downloads: 167 Full text (593,94 KB) |
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194. 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 sequencingVida 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: 593; Downloads: 306 Full text (2,35 MB) This document has many files! More... |
195. Comparison of selected dimensionality reduction methods for detection of root-knot nematode infestations in potato tubers using hyperspectral imagingJanez Lapajne, Matej Knapič, Uroš Žibrat, original scientific article Keywords: hyperspectral imaging, dimensionality reduction, LDA, PLS, PCA, RandomForest, ReliefF, XGB, Meloidogyne, Solanum tuberosum Published in DiRROS: 06.09.2022; Views: 565; Downloads: 198 Full text (1,79 MB) |
196. The Carniolan honeybee from Slovenia : a complete and annotated mitochondrial genome with comparisons to closely related Apis mellifera subspeciesAjda Moškrič, Andraž Marinč, Polonca Ferk, Branimir Leskošek, Mai-Britt Mosbech, Ignas Bunikis, Olga Vinnere Pettersson, Lucile Soler, Janez Prešern, original scientific article Abstract: The complete mitochondrial genome of the Carniolan honeybee (Apis mellifera carnica) from Slovenia, a homeland of this subspecies, was acquired in two contigs from WGS data and annotated. The newly obtained mitochondrial genome is a circular closed loop of 16,447 bp. It comprises 37 genes (13 protein coding genes, 22 tRNA genes, and 2 rRNA genes) and an AT-rich control region. The order of the tRNA genes resembles the order characteristic of A. mellifera. The mitogenomic sequence of A. m. carnica from Slovenia contains 44 uniquely coded sites in comparison to the closely related subspecies A. m. ligustica and to A. m. carnica from Austria. Furthermore, 24 differences were recognised in comparison between A. m. carnica and A. m. ligustica subspecies. Among them, there are three SNPs that affect translation in the nd2, nd4, and cox2 genes, respectively. The phylogenetic placement of A. m. carnica from Slovenia within C lineage deviates from the expected position and changes the perspective on relationship between C and O lineages. The results of this study represent a valuable addition to the information available in the phylogenomic studies of A. mellifera—a pollinator species of worldwide importance. Such genomic information is essential for this local subspecies’ conservation and preservation as well as its breeding and selection. Keywords: western honeybee, Apis mellifera carnica, mitochondrial genome, phylogeny, C lineage, annotation, whole genome sequencing, protection, conservation Published in DiRROS: 06.09.2022; Views: 598; Downloads: 197 Full text (1,06 MB) |
197. Gospodarjenje s tujerodnimi drevesnimi vrstami v urbanem prostoru alpskega prostoraAjša Alagić, Aleksander Marinšek, Ana Dolenc, Andrey Krasovskiy, Anica Simčič, Anja M. Bindewald, Anja Müller-Meißner, Bénédicte Baxerres, Claudia Cocozza, Debojyoti Chakraborty, Janez Kermavnar, Lado Kutnar, Simon Zidar, Tina Trampuš, Živa Bobič Červek, 2022, dictionary, encyclopaedia, lexicon, manual, atlas, map Keywords: tujerodne drevesne vrste, Alpe, invazivne drevesne vrste, gospodarjenje z gozdovi, podnebne spremembe, urbani prostor Published in DiRROS: 12.08.2022; Views: 1303; Downloads: 339 Full text (4,27 MB) |
198. Handbook for non native tree species in the urban spaceAjša Alagić, Aleksander Marinšek, Ana Dolenc, Andrey Krasovskiy, Anica Simčič, Anja M. Bindewald, Anja Müller-Meißner, Bénédicte Baxerres, Claudia Cocozza, Debojyoti Chakraborty, Janez Kermavnar, Lado Kutnar, Simon Zidar, Tina Trampuš, Živa Bobič Červek, 2022, dictionary, encyclopaedia, lexicon, manual, atlas, map Keywords: non-native tree species, Alps, invasive alien species, forest management, urbanspace, climate changes Published in DiRROS: 12.08.2022; Views: 640; Downloads: 224 Full text (4,25 MB) |
199. Gospodarjenje s tujerodnimi drevesnimi vrstami v gozdovih alpskega prostoraSonia Abluton, Ajša Alagić, Bénédicte Baxerres, Frédéric Berger, Anja M. Bindewald, Sylvain Bouquet, Martin Braun, Giuseppe Brundu, Patricia Detry, Freya-Isabel Georges, Janez Kermavnar, Lado Kutnar, Aleksander Marinšek, Anica Simčič, Simon Zidar, 2022, dictionary, encyclopaedia, lexicon, manual, atlas, map Keywords: tujerodne drevesne vrste, Alpe, invazivne drevesne vrste, gospodarjenje z gozdovi, podnebne spremembe Published in DiRROS: 12.08.2022; Views: 1304; Downloads: 260 Full text (3,25 MB) |
200. Management of non-native tree species in forests of the Alpine spaceSonia Abluton, Ajša Alagić, Bénédicte Baxerres, Frédéric Berger, Anja M. Bindewald, Sylvain Bouquet, Martin Braun, Giuseppe Brundu, Patricia Detry, Freya-Isabel Georges, Janez Kermavnar, Lado Kutnar, Aleksander Marinšek, Anica Simčič, Simon Zidar, 2022, dictionary, encyclopaedia, lexicon, manual, atlas, map Keywords: non-native tree species, Alps, invasive alien species, forest management, climate changes Published in DiRROS: 12.08.2022; Views: 672; Downloads: 213 Full text (3,20 MB) |