The Turkish Journal of Pediatrics 2022 , Vol 64 , Num 3
Identification of candidate genes in a family with cancer overload by whole-exome sequencing
Demet Akdeniz Ödemiş 1 ,Rejin Kebudi 2 ,Masoumeh Hassani 3 ,Betül Çelik 1 ,Şeref Buğra Tuncer 1 ,Seda Kılıç Erciyas 1 ,Özge Şükrüoğlu Erdoğan 1 ,Sema Büyükkapu Bay 2 ,Hülya Yazıcı 1-4
1 Departments of Cancer Genetics, İstanbul University Oncology Institute, İstanbul
2 Departments of Pediatric Hematology-Oncology, İstanbul University Oncology Institute, İstanbul
3 Departments of Pathology, Laboratory Techniques, Vocational School of Health Services, İstanbul Gelisim University, İstanbul
4 Department of Basic Medical Sciences, İstanbul Arel University, İstanbul, Turkey
DOI : 10.24953/turkjped.2021.4872 Background. Approximately 120 out of every 1 million children in the world develop cancer each year. In Turkey, 2500-3000 children are diagnosed with new cancer each year. The causes of childhood cancer have been studied for many years. It is known that many cancers in children, as in adults, cause uncontrolled cell growth, and develop as a result of mutations in genes that cause cancer.

Methods. The investigation of family history within this context in the study, a total of 13 individuals consisting of all children and adults in the family were examined using the whole-exome sequencing (WES) with the individuals who were diagnosed with cancer in the family, who were detected to have different cancer profiles, and defined as high risk and to determine the gene or genes through which the disease has developed.

Results. At the end of the study, a total of 30 variants with a pathogenic record in the family were identified. A total of 10 pathogenic variants belonging to 8 different genes from these variants have been associated with various cancer risks.

Conclusions. A significant scientific contribution has been made to the mechanism of disease formation by studying a family with a high cancer burden and by finding the genes associated with the disease. In addition, by the results obtained, family members with cancer predisposition were selected after a risk analysis conducted in this family, and the necessary examinations and scans were recommended to provide an early diagnostic advantage. Keywords : cancer, gene mutation, candidate genes, whole exome sequencing

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