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4. Pharmacogenomic markers of glucorticoid responses in the initial phase of remission induction therapy in childhood acute lymphoblastic leukemiaVladimir Gasic, Branka Zukic, Biljana Stanković, Dragana Janić, Lidija Dokmanovic, Jelena Lazic, Nada Krstovski, Vita Dolžan, Janez Jazbec, Sonja Pavlovič, Nikola Kotur, 2018, izvirni znanstveni članek Ključne besede: pharmacogenomics, childhood ALL, glucocorticoids, glucocorticoid receptor gene, glutathione S-transferase genes, multidrug resistance 1 gene Objavljeno v DiRROS: 11.06.2024; Ogledov: 167; Prenosov: 57
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5. Association between SLC19A1 gene polymorphism and high dose methotrexate toxicity in childhood acute lymphoblastic leukaemia and non Hodgkin malignant lymphoma : introducing a haplotype based approachBarbara Faganel Kotnik, Janez Jazbec, Petra Bohanec Grabar, Christina Rodriguez-Antona, Vita Dolžan, 2017, izvirni znanstveni članek Ključne besede: acute lymphoblastic leukaemia, genetic polymorphism, haplotype, methotrexate Objavljeno v DiRROS: 31.05.2024; Ogledov: 205; Prenosov: 164
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6. Antioxidant defence-related genetic variants are not associated with higher risk of secondary thyroid cancer after treatment of malignancy in childhood or adolescenceAna Lina Vodušek, Katja Goričar, Barbara Gazić, Vita Dolžan, Janez Jazbec, 2016, izvirni znanstveni članek Povzetek: Background. Thyroid cancer is one of the most common secondary cancers after treatment of malignancy in childhood or adolescence. Thyroid gland is very sensitive to the carcinogenic effect of ionizing radiation, especially in children. Imbalance between pro- and anti-oxidant factors may play a role in thyroid carcinogenesis. Our study aimed to assess the relationship between genetic variability of antioxidant defence-related genes and the risk of secondary thyroid cancer after treatment of malignancy in childhood or adolescence. Patients and methods. In a retrospective study, we compared patients with childhood or adolescence primary malignancy between 1960 and 2006 that developed a secondary thyroid cancer (cases) with patients (controls), with the same primary malignancy but did not develop any secondary cancer. They were matched for age, gender, primary diagnosis and treatment (especially radiotherapy) of primary malignancy. They were all genotyped for SOD2 p.Ala16Val, CAT c.-262C>T, GPX1 p.Pro200Leu, GSTP1 p.Ile105Val, GSTP1 p.Ala114Val and GSTM1 and GSTT1 deletions. The influence of polymorphisms on occurrence of secondary cancer was examined by McNemar test and Cox proportional hazards model. Results. Between 1960 and 2006 a total of 2641 patients were diagnosed with primary malignancy before the age of 21 years in Slovenia. Among them 155 developed a secondary cancer, 28 of which were secondary thyroid cancers. No significant differences in the genotype frequency distribution were observed between cases and controls. Additionally we observed no significant influence of investigated polymorphisms on time to the development of secondary thyroid cancer. Conclusions. We observed no association of polymorphisms in antioxidant genes with the risk for secondary thyroid cancer after treatment of malignancy in childhood or adolescence. However, thyroid cancer is one of the most common secondary cancers in patients treated for malignancy in childhood or adolescence and the lifelong follow up of these patients is of utmost importance. Ključne besede: secondary thyroid cancer, antioxidant genes, genetic polymorphism Objavljeno v DiRROS: 09.05.2024; Ogledov: 251; Prenosov: 176
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7. The influence of folate pathway polymorphisms on high-dose methotrexaterelated toxicity and survival in children with non-Hodgkin malignant lymphomaNina Erčulj, Barbara Faganel Kotnik, Maruša Debeljak, Janez Jazbec, Vita Dolžan, 2014, izvirni znanstveni članek Povzetek: Background. We evaluated the influence of folate pathway polymorphisms on high-dose methotrexate (HD-MTX) related toxicity in paediatric patients with T-cell non-Hodgkin lymphoma (NHL). Patients and methods. In total, 30 NHL patients were genotyped for selected folate pathway polymorphisms. Results. Carriers of at least one MTHFR 677T allele had significantly higher MTX area under the time-concentration curve levels at third MTX cycle (P = 0.003). These patients were also at higher odds of leucopoenia (P = 0.006) or thrombocytopenia (P = 0.041) and had higher number of different HD-MTX-related toxicity (P = 0.035) compared to patients with wild-type genotype. Conclusions. Our results suggest an important role of MTHFR 677C>T polymorphism in the development of HD-MTXrelated toxicity in children with NHL. Ključne besede: childhood, non-Hodgkin lymphoma, polymorphism Objavljeno v DiRROS: 16.04.2024; Ogledov: 254; Prenosov: 164
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