TY  - GEN
AB  - Brain cancer is the leading cause of cancer-related death in children. Somatic structural variations (SVs), large-scale alterations in DNA, remain poorly understood in pediatric brain tumors. Here, we detect a total of 13,199 high-confidence somatic SVs in 744 whole-genome sequences of pediatric brain tumors from the Pediatric Brain Tumor Atlas. The somatic SV occurrences have tremendous diversity among the cohort and across different tumor types. We decompose mutational signatures of clustered complex SVs, non-clustered complex SVs, and simple SVs separately to infer their mutational mechanisms. Our finding of many tumor types carrying unique sets of SV signatures suggests that distinct molecular mechanisms shape genome instability in different tumor types. The patterns of somatic SV signatures in pediatric brain tumors are substantially different from those in adult cancers. The convergence of multiple SV signatures on several major cancer driver genes implies vital roles of somatic SVs in disease progression. 
AD  - University of Chicago
AD  - University of Chicago
AU  - Yang, Yang
AU  - Yang, Lixing
DA  - 2023-10-17
ID  - 9131
JF  - Cell Report
KW  - CP: Cancer
KW  - chromothripsis
KW  - gene fusion
KW  - genome instability
KW  - genomic rearrangement
L1  - https://knowledge.uchicago.edu/record/9131/files/Somatic-structural-variation-signatures-in-pediatric-brain-tumors.pdf
L1  - https://knowledge.uchicago.edu/record/9131/files/1-s2.0-S2211124723012883-fx1_lrg.jpg
L1  - https://knowledge.uchicago.edu/record/9131/files/Supplemental-information.zip
L2  - https://knowledge.uchicago.edu/record/9131/files/Somatic-structural-variation-signatures-in-pediatric-brain-tumors.pdf
L2  - https://knowledge.uchicago.edu/record/9131/files/1-s2.0-S2211124723012883-fx1_lrg.jpg
L2  - https://knowledge.uchicago.edu/record/9131/files/Supplemental-information.zip
L4  - https://knowledge.uchicago.edu/record/9131/files/Somatic-structural-variation-signatures-in-pediatric-brain-tumors.pdf
L4  - https://knowledge.uchicago.edu/record/9131/files/1-s2.0-S2211124723012883-fx1_lrg.jpg
L4  - https://knowledge.uchicago.edu/record/9131/files/Supplemental-information.zip
LA  - eng
LK  - https://knowledge.uchicago.edu/record/9131/files/Somatic-structural-variation-signatures-in-pediatric-brain-tumors.pdf
LK  - https://knowledge.uchicago.edu/record/9131/files/1-s2.0-S2211124723012883-fx1_lrg.jpg
LK  - https://knowledge.uchicago.edu/record/9131/files/Supplemental-information.zip
N2  - Brain cancer is the leading cause of cancer-related death in children. Somatic structural variations (SVs), large-scale alterations in DNA, remain poorly understood in pediatric brain tumors. Here, we detect a total of 13,199 high-confidence somatic SVs in 744 whole-genome sequences of pediatric brain tumors from the Pediatric Brain Tumor Atlas. The somatic SV occurrences have tremendous diversity among the cohort and across different tumor types. We decompose mutational signatures of clustered complex SVs, non-clustered complex SVs, and simple SVs separately to infer their mutational mechanisms. Our finding of many tumor types carrying unique sets of SV signatures suggests that distinct molecular mechanisms shape genome instability in different tumor types. The patterns of somatic SV signatures in pediatric brain tumors are substantially different from those in adult cancers. The convergence of multiple SV signatures on several major cancer driver genes implies vital roles of somatic SVs in disease progression. 
PY  - 2023-10-17
T1  - Somatic structural variation signatures in pediatric brain tumors
TI  - Somatic structural variation signatures in pediatric brain tumors
UR  - https://knowledge.uchicago.edu/record/9131/files/Somatic-structural-variation-signatures-in-pediatric-brain-tumors.pdf
UR  - https://knowledge.uchicago.edu/record/9131/files/1-s2.0-S2211124723012883-fx1_lrg.jpg
UR  - https://knowledge.uchicago.edu/record/9131/files/Supplemental-information.zip
Y1  - 2023-10-17
ER  -