551. Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencingTina Kerševan, Tina Kogovšek, Ana Blatnik, Mateja Krajc, 2025, original scientific article Abstract: The Department of Clinical Cancer Genetics at the Institute of Oncology Ljubljana offers genetic counselling and testing to cancer patients and their relatives. Before undergoing genetic testing, patients sign the informed consent form. In addition to giving consent for collection of biological material and genetic testing, patients decide about storage of biological material and participation in international databases. Furthermore, patients decide whether the information regarding their test results may be revealed to their blood relatives and whether they want to be informed about secondary findings. Methods Using the signed consent forms, we investigated the effect of selected factors on patients’ decisions. Using different statistical methods, we tried to determine the proportion of patients who opted for different items and the effect of gender, age and cancer diagnoses on their decisions. Results Nearly all (99.6%) patients, regardless of gender, age, and presence of oncological diagnosis, consented to the storage of their biological material, 98.4% of patients, regardless of gender, age, and presence of oncological diagnosis, wanted to be included in international databases in a pseudo-anonymised form, 98.8% of patients, irrespective of gender, age, and presence of oncological diagnosis, allowed blood relatives to see their results, and 98.4% of patients, irrespective of gender, age and presence of oncological diagnosis, wanted to know whether secondary findings were detected when genetic analysis of their biological material was performed. Men are, on average, more likely to consent but the difference between genders is not statistically significant. Patients without oncological disease were more likely to agree to be included in international databases than patients with a confirmed oncological diagnosis. Conclusions Our results show that the vast majority of patients were in favour of the options they were offered. Most importantly, the majority of them allow their genetic test results be revealed to their blood relatives when needed and would participate in international databases. Research in rare diseases, including rare cancer genetic predisposition syndromes, is crucial for optimal diagnostic, prevention and treatment options for patients with rare genetic disorders. The results are also important for refining the approach to pre-and post-test cancer genetic counselling.
Keywords: informed consent, genetic counselling, genetic testing
Published in DiRROS: 19.11.2025; Views: 124; Downloads: 56
 Full text (1,29 MB)
This document has many files! More... |
552. Electrochemotherapy with bleomycin, oxaliplatin, or cisplatin in mouse tumor models, from tumor ablation to in situ vaccinationKatja Uršič Valentinuzzi, Urška Kamenšek, Simona Kranjc Brezar, Chloe Heranney, Tilen Komel, Simon Buček, Maja Čemažar, Gregor Serša, 2025, original scientific article Abstract: Introduction: In addition to its direct cytotoxic effects, ablative therapies as electrochemotherapy (ECT) can elicit indirect antitumor effects by triggering immune system responses. Here, we comprehensively analyzed this dual effectiveness of intratumoral ECT with chemotherapeutic drugs bleomycin (BLM), oxaliplatin (OXA), and cisplatin (CDDP). Our aim was to determine if ECT can act as in situ vaccination and thereby induce an abscopal effect. By evaluating ECT’s potential for in situ vaccination, our goal was to pave the way for future advancements for its combination with emerging (immuno)therapies, leading to enhanced responses and outcomes. Methods: We employed two mouse tumor models, the immunologically cold B16F10 melanoma and 4T1 mammary carcinoma, to explore both local and systemic (i.e., abscopal) antitumor effects following equieffective intratumoral ECT with BLM, OXA, and CDDP. Through histological analyses and the use of immunodeficient and metastatic (for abscopal effect) mouse models, we identified and compared both the cytotoxic and immunological components of ECT’s antitumor efficiency, such as immunologically recognizable cell deaths (immunogenic cell death and necrosis) and immune infiltrate (CD11+, CD4+, CD8+, GrB+). Results: Differences in immunological involvement after equieffective intratumoral ECT were highlighted by variable kinetics of immunologically recognizable cell deaths and immune infiltrate across the studied tumor models. Particularly, the 4T1 tumor model exhibited a more pronounced involvement of the immune component compared to the B16F10 tumor model. Variances in the antitumor (immune) response were also detected based on the chemotherapeutic drug used in ECT. Collectively, ECT demonstrated effectiveness in inducing in situ vaccination in both tumor models; however, an abscopal effect was observed in the 4T1 tumor model only. Conclusions: This is the first preclinical study systematically comparing the immune involvement in intratumoral ECT’s efficiency using three distinct chemotherapeutic drugs in mouse tumor models. The demonstrated variability in immune response to ECT across different tumor models and chemotherapeutic drugs provides a basis for future investigations aimed at enhancing the effectiveness of combined treatments.
Keywords: electroporation, chemotherapeutic drugs, mouse tumor models
Published in DiRROS: 19.11.2025; Views: 182; Downloads: 83
Full text (18,91 MB)
This document has many files! More... |
553. |
554. |
555. |
556. |
557. |
558. |
559. |
560. Conservation hints for Pinna nobilis from a century-old genetic time capsuleIlenia Azzena, Chiara Locci, Noemi Pascale, Ilaria Deplano, Riccardo Senigaglia, Edoardo Batistini, Daniela Caracciolo, Mariachiara Chiantore, Saul Ciriaco, Maria Paola Ferranti, Daniele Grech, Arianna Liconti, Monica Montefalcone, Alice Oprandi, Valentina Pitacco, Marco Segarich, Rym Zakhama-Sraieb, Ahmed Ben Hmida, Salma Zribi, Fabio Scarpa, Marco Casu, Daria Sanna, 2025, original scientific article Abstract: The noble pen shell, Pinna nobilis, is an iconic marine bivalve endemic to the Mediterranean Sea, playing a key role as an ecosystem engineer. Over the past century, it has faced severe threats from overharvesting, pollution, and catastrophic mass mortality events. This study analysed 119 mitochondrial COI gene sequences from historical (1700s, 1920s, 1970s, 1990s) and modern (2000s) samples, including survivors of recent mass mortality crises. We standardised a protocol to extract DNA from ancient byssus samples over a century old and dated the emergence of the mitochondrial lineages of Pinna nobilis, uncovering its evolutionary history in unprecedented detail. Our findings suggest two main temporal origins for the species’ genetic variation: (i) a group of modern lineages directly descended from Pinna nobilis early ancestors originating 2.5 mya, and (ii) a large group derived from the first Pleistocene radiation of the species, approximately 1.5 mya. Importantly, our research depicts the evolutionary response of Pinna nobilis to three major challenges in the last century: human overexploitation, pollution, and environmental changes. Our results highlight the species’ remarkable resilience, likely mediated by Pleistocene genetic traits, whose persistence over time mainly depends on the maintaining of a high effective population size to ensure successful recruitment.
Keywords: noble pen shell, genetic variability, evolutionary response, species conservation
Published in DiRROS: 19.11.2025; Views: 127; Downloads: 93
Full text (1,98 MB)
This document has many files! More... |
