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RB1 gene mutations and genetic spectrum in retinoblastoma cases

Mon, 01 Jan 2024 00:00:00 GMT

RB1 gene mutations and genetic spectrum in retinoblastoma cases Odemis, Demet Akdeniz; Kebudi, Rejin; Bayramova, Jamila; Erciyas, Seda Kilic; Turkcan, Gozde Kuru; Tuncer, Seref Bugra; Erdogan, Ozge Sukruoglu; Celik, Betul; Gultaslar, Busra Kurt; Bay, Sema Buyukkapu; Tuncer, Samuray; Yazici, Hulya The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands with retinoblastoma, 14 family members with retinoblastoma and 83 clinically healthy family members). All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions and insertions using both the Sanger sequencing or NGS methods, and the large deletions and duplications were investigated using the MLPA analysis and CNV algorithm. The bilateral/trilateral retinoblastoma rate was 66% in the study population. The general frequency of RB1 gene mutation in the germline of the patients with retinoblastoma was 41.9%. Approximately 51.5% of the patients were diagnosed earlier than 12 months old, and de novo mutation was found in 32.4% of the patients. Germline small genetic rearrangement mutations were detected in 78.9% of patients and LGRs were detected in 21.1% of patients. An association was detected between the eye color of the RB patients and RB1 mutations. 8 of the mutations detected in the RB1 gene were novel in the study.

High Expression of miR-218-5p in the Peripheral Blood Stream and Tumor Tissues of Pediatric Patients with Sarcomas

Mon, 01 Jan 2024 00:00:00 GMT

High Expression of miR-218-5p in the Peripheral Blood Stream and Tumor Tissues of Pediatric Patients with Sarcomas Ozdenoglu, Fazilet Yildiz; Odemis, Demet Akdeniz; Erciyas, Seda Kilic; Tuncer, Seref Bugra; Gultaslar, Busra Kurt; Salduz, Ahmet; Buyukkapu, Sema; Olgac, Necat Vakur; Kebudi, Rejin; Yazici, Hulya Sarcomas are malignant tumors that may metastasize and the course of the disease is highly aggressive in children and young adults. Because of the rare incidence of sarcomas and the heterogeneity of tumors, there is a need for non-invasive diagnostic and prognostic biomarkers in sarcomas. The aim of the study was to investigate the level of miR-218-5p in peripheral blood and tumor tissue samples of Ewing's sarcoma, osteosarcoma, spindle cell sarcoma patients, and healthy controls, and assessed whether the corresponding molecule was a diagnostic and prognostic biomarker. The study was performed patients (n = 22) diagnosed and treated with Ewing's sarcoma and osteosarcoma and in a control group of 22 healthy children who were matched for age, gender, and ethnicity with the patient group. The expression level of miR-218-5p in RNA samples from peripheral blood and tissue samples were analyzed using the RT-PCR and the expression level of miR-218-5p was evaluated by comparison with the levels in patients and healthy controls. The expression level of miR-218-5p was found to be statistically higher (3.33-fold, p = 0.006) in pediatric patients with sarcomas and when the target genes of miR-218-5p were investigated using the bioinformatics tools, the miR-218-5p was found as an important miRNA in cancer. In this study, the miR-218-5p was shown for the first time to have been highly expressed in the peripheral blood and tumor tissue of sarcoma patients. The results suggest that miR-218-5p can be used as a diagnostic and prognostic biomarker in sarcomas and will be evaluated as an important therapeutic target.

Genetic Alterations in Lung Cancer

Mon, 01 Jan 2024 00:00:00 GMT

Genetic Alterations in Lung Cancer Bayramova, Jamila; Tarakci, Elif; Huseynova, Gumru; Yazici, Hilal; Yazici, Hulya Lung cancer is the leading cause of cancer -related deaths worldwide. Due to the prevalence of late -stage diagnoses, treatment options are frequently constrained. Molecular profiling of lung cancer is crucial for the clinical management and successful therapy of the disease because lung cancer originates from a multilayered carcinogenesis consisting of multiple genetic and epigenetic abnormalities. The potential of anomalies involved in carcinogenesis as biomarkers that can be used in the diagnosis and treatment of lung cancer has begun to be evaluated due to the development of new generation sequencing methods and their more frequent application in the clinic. This review presents information regarding the genetic alterations responsible for the malignant transformation of lung cells. The article highlights the predominant gene mutations that are specific to a particular subtype of lung cancer, their impact on the clinical progression of the disease, and the response to treatment. However, in summarizing all genetic features, the latest information from the NCCN v2.2024 guide was taken into account.

Factors associated with psychological distress during genetic counseling in high-risk women with breast cancer in Turkey

Mon, 01 Jan 2024 00:00:00 GMT

Factors associated with psychological distress during genetic counseling in high-risk women with breast cancer in Turkey Anuk, Dilek; Tuncer, Seref Bugra; Ozkan, Mine; Yazici, Hulya Purpose This study aims to shed light on the rather neglected area of research of psychological distress in women facing genetic counselling in Turkey, where few institutions providing such counselling exist. Methods 105 breast cancer patients presenting for genetic testing completed a sociodemographic and clinical questionnaire as well as validated structured questionnaires including the Beck Depression Inventory (BDI), the State-Trait Anxiety Inventory (STAI-S/T) and the Health Motivation Sub-dimension of Champion's Health Belief Model Scale. Results 69.5% of the participants had lost a family member from cancer; 80% said the term "cancer" elicited negative thoughts (e.g., death, fear, and incurable disease). 62.9% and 37.1% attributed cancer to stress or sorrow, and genetic susceptibility, respectively. There was a negative association between health motivation and BDI scores (r:-0.433, p < 0.001). Married individuals had higher BDI and STAI-S scores (p = 0.001, p = 0.01 respectively), as well as lower STAI-T scores (p = 0.006). BDI, STAI-S and STAI-T scores were higher in those refusing genetic testing (p < 0.001, p < 0.001, p = 0.003 respectively) and those with metastases (p = 0.03, p = 0.01, p = 0.03 respectively). Furthermore, individuals with low health motivation were more likely to exhibit high BDI scores (p < 0.001) and low STAI-T scores (p = 0.02). Conclusion Common perceptions and beliefs about cancer and genetic testing during genetic counselling were found to have a negative impact on distress in high-risk women with breast cancer. The negative relationship between psychological distress and health motivation may reduce patients' compliance with genetic counselling recommendations. A comprehensive psychological evaluation should be considered as an important part of genetic counselling.