TY - JOUR
AU - Mateos, Marion K
AU - Ajuyah, Pamela
AU - Fuentes-Bolanos, Noemi
AU - El-Kamand, Sam
AU - Barahona, Paulette
AU - Altekoester, Ann-Kristin
AU - Mayoh, Chelsea
AU - Holliday, Holly
AU - Liu, Jie
AU - Cui, Louise
AU - Pfaff, Elke
AU - Mackay, Alan
AU - Resnick, Adam C
AU - Pinese, Mark
AU - Lau, Loretta M S
AU - Khuong-Quang, Dong-Anh
AU - Dias, Kimberly
AU - Goudie, Catherine
AU - Salkeld, Alison
AU - Rokita, Jo Lynne
AU - Jones, David T W
AU - Juretic, Nikoleta
AU - Hayden, Elisha
AU - Pfister, Stefan M
AU - Kramm, Christof M
AU - Blattner-Johnson, Mirjam
AU - Jabado, Nada
AU - Tsoli, Maria
AU - Vittorio, Orazio
AU - Mueller, Sabine
AU - Guo, Yiran
AU - Tucker, Katherine
AU - Waszak, Sebastian M
AU - Perreault, Sebastien
AU - Jones, Chris
AU - Wong-Erasmus, Marie
AU - Cowley, Mark J
AU - Ziegler, David S
TI - Germline analysis of an international cohort of pediatric diffuse midline glioma patients.
JO - Neuro-Oncology
VL - 27
IS - 7
SN - 1522-8517
CY - Oxford
PB - Oxford Univ. Press
M1 - DKFZ-2025-00544
SP - 1849-1863
PY - 2025
N1 - 2025 Sep 8;27(7):1849-1863
AB - Factors that drive the development of diffuse midline gliomas (DMG) are unknown. Our study aimed to determine the prevalence of pathogenic/likely pathogenic (P/LP) germline variants in pediatric patients with DMG.We assembled an international cohort of 252 pediatric patients with DMG, including diffuse intrinsic pontine glioma (n=153), with germline whole genome or whole exome sequencing.We identified P/LP germline variants in cancer predisposition genes in 7.5
KW - PARP inhibitor (Other)
KW - diffuse midline glioma (Other)
KW - germline variants (Other)
KW - homologous recombination (Other)
KW - pediatric (Other)
LB - PUB:(DE-HGF)16
C6 - pmid:40072012
DO - DOI:10.1093/neuonc/noaf061
UR - https://inrepo02.dkfz.de/record/299789
ER -