Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors
Аутори
Jovanović, AleksaTošić, Nataša
Marjanović, Irena
Komazec, Jovana
Zukić, Branka
Nikitović, Marina
Ilić, Rosanda
Grujičić, Danica
Janić, Dragana
Pavlović, Sonja
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Central nervous system (CNS) tumors comprise around 20% of childhood malignancies. Germline variants in cancer predisposition genes (CPGs) are found in approximately 10% of pediatric patients with CNS tumors. This study aimed to characterize variants in CPGs in pediatric patients with CNS tumors and correlate these findings with clinically relevant data. Genomic DNA was isolated from the peripheral blood of 51 pediatric patients and further analyzed by the next-generation sequencing approach. Bioinformatic analysis was done using an “in-house” gene list panel, which included 144 genes related to pediatric brain tumors, and the gene list panel Neoplasm (HP:0002664). Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK, APC, CHEK2, ELP1, MLH1, MSH2, NF1, NF2 and TP53. This study represents the first comprehensive evaluation of germline variants in pediatric patients with CNS tumors in the Western Balkans region. Our re...sults indicate the necessity of genomic research to reveal the genetic basis of pediatric CNS tumors, as well as to define targets for the application and development of innovative therapeutics that form the basis of the upcoming era of personalized medicine.
Кључне речи:
central nervous system tumors / childhood cancer / genomic alterations / targeted therapyИзвор:
International Journal of Molecular Sciences, 2023, 24, 24, 17387-Финансирање / пројекти:
- Ministry of Science, Technological Development and Innovation, Republic of Serbia (Grant No. 451-03-47/2023)
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Jovanović, Aleksa AU - Tošić, Nataša AU - Marjanović, Irena AU - Komazec, Jovana AU - Zukić, Branka AU - Nikitović, Marina AU - Ilić, Rosanda AU - Grujičić, Danica AU - Janić, Dragana AU - Pavlović, Sonja PY - 2023 UR - https://www.mdpi.com/1422-0067/24/24/17387 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2279 AB - Central nervous system (CNS) tumors comprise around 20% of childhood malignancies. Germline variants in cancer predisposition genes (CPGs) are found in approximately 10% of pediatric patients with CNS tumors. This study aimed to characterize variants in CPGs in pediatric patients with CNS tumors and correlate these findings with clinically relevant data. Genomic DNA was isolated from the peripheral blood of 51 pediatric patients and further analyzed by the next-generation sequencing approach. Bioinformatic analysis was done using an “in-house” gene list panel, which included 144 genes related to pediatric brain tumors, and the gene list panel Neoplasm (HP:0002664). Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK, APC, CHEK2, ELP1, MLH1, MSH2, NF1, NF2 and TP53. This study represents the first comprehensive evaluation of germline variants in pediatric patients with CNS tumors in the Western Balkans region. Our results indicate the necessity of genomic research to reveal the genetic basis of pediatric CNS tumors, as well as to define targets for the application and development of innovative therapeutics that form the basis of the upcoming era of personalized medicine. T2 - International Journal of Molecular Sciences T1 - Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors IS - 24 SP - 17387 VL - 24 DO - 10.3390/ijms242417387 ER -
@article{ author = "Jovanović, Aleksa and Tošić, Nataša and Marjanović, Irena and Komazec, Jovana and Zukić, Branka and Nikitović, Marina and Ilić, Rosanda and Grujičić, Danica and Janić, Dragana and Pavlović, Sonja", year = "2023", abstract = "Central nervous system (CNS) tumors comprise around 20% of childhood malignancies. Germline variants in cancer predisposition genes (CPGs) are found in approximately 10% of pediatric patients with CNS tumors. This study aimed to characterize variants in CPGs in pediatric patients with CNS tumors and correlate these findings with clinically relevant data. Genomic DNA was isolated from the peripheral blood of 51 pediatric patients and further analyzed by the next-generation sequencing approach. Bioinformatic analysis was done using an “in-house” gene list panel, which included 144 genes related to pediatric brain tumors, and the gene list panel Neoplasm (HP:0002664). Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK, APC, CHEK2, ELP1, MLH1, MSH2, NF1, NF2 and TP53. This study represents the first comprehensive evaluation of germline variants in pediatric patients with CNS tumors in the Western Balkans region. Our results indicate the necessity of genomic research to reveal the genetic basis of pediatric CNS tumors, as well as to define targets for the application and development of innovative therapeutics that form the basis of the upcoming era of personalized medicine.", journal = "International Journal of Molecular Sciences", title = "Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors", number = "24", pages = "17387", volume = "24", doi = "10.3390/ijms242417387" }
Jovanović, A., Tošić, N., Marjanović, I., Komazec, J., Zukić, B., Nikitović, M., Ilić, R., Grujičić, D., Janić, D.,& Pavlović, S.. (2023). Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors. in International Journal of Molecular Sciences, 24(24), 17387. https://doi.org/10.3390/ijms242417387
Jovanović A, Tošić N, Marjanović I, Komazec J, Zukić B, Nikitović M, Ilić R, Grujičić D, Janić D, Pavlović S. Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors. in International Journal of Molecular Sciences. 2023;24(24):17387. doi:10.3390/ijms242417387 .
Jovanović, Aleksa, Tošić, Nataša, Marjanović, Irena, Komazec, Jovana, Zukić, Branka, Nikitović, Marina, Ilić, Rosanda, Grujičić, Danica, Janić, Dragana, Pavlović, Sonja, "Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors" in International Journal of Molecular Sciences, 24, no. 24 (2023):17387, https://doi.org/10.3390/ijms242417387 . .