TY  - 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 . .