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| 001 | 299789 | ||
| 005 | 20250914022634.0 | ||
| 024 | 7 | _ | |a 10.1093/neuonc/noaf061 |2 doi |
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| 024 | 7 | _ | |a 1522-8517 |2 ISSN |
| 024 | 7 | _ | |a 1523-5866 |2 ISSN |
| 024 | 7 | _ | |a altmetric:175233353 |2 altmetric |
| 037 | _ | _ | |a DKFZ-2025-00544 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Mateos, Marion K |b 0 |
| 245 | _ | _ | |a Germline analysis of an international cohort of pediatric diffuse midline glioma patients. |
| 260 | _ | _ | |a Oxford |c 2025 |b Oxford Univ. Press |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1757588004_8144 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a 2025 Sep 8;27(7):1849-1863 |
| 520 | _ | _ | |a 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% (19/252) of patients. Tumor profiles differed, with absence of somatic drivers in the PI3K/mTOR pathway in patients with germline P/LP variants versus those without (P = 0.023). P/LP germline variants were recurrent in homologous recombination (n=9; BRCA1, BRCA2, PALB2) and Fanconi anemia genes (n=4). Somatic findings established that the germline variants definitively contributed to tumorigenesis in at least 1% of cases. One patient with recurrent DMG and pathogenic germline variants (BRCA2, FANCE) showed near-complete radiological response to PARP and immune checkpoint inhibition.Our study determined the prevalence of pathogenic germline variants in pediatric DMG, and suggests a role in tumorigenesis for a subset of patients. |
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| 650 | _ | 7 | |a PARP inhibitor |2 Other |
| 650 | _ | 7 | |a diffuse midline glioma |2 Other |
| 650 | _ | 7 | |a germline variants |2 Other |
| 650 | _ | 7 | |a homologous recombination |2 Other |
| 650 | _ | 7 | |a pediatric |2 Other |
| 700 | 1 | _ | |a Ajuyah, Pamela |b 1 |
| 700 | 1 | _ | |a Fuentes-Bolanos, Noemi |0 0000-0001-6880-5428 |b 2 |
| 700 | 1 | _ | |a El-Kamand, Sam |0 0000-0003-2270-8088 |b 3 |
| 700 | 1 | _ | |a Barahona, Paulette |b 4 |
| 700 | 1 | _ | |a Altekoester, Ann-Kristin |b 5 |
| 700 | 1 | _ | |a Mayoh, Chelsea |b 6 |
| 700 | 1 | _ | |a Holliday, Holly |b 7 |
| 700 | 1 | _ | |a Liu, Jie |b 8 |
| 700 | 1 | _ | |a Cui, Louise |b 9 |
| 700 | 1 | _ | |a Pfaff, Elke |0 P:(DE-He78)c0538fae462bd98e3cd8d54ed885b0eb |b 10 |u dkfz |
| 700 | 1 | _ | |a Mackay, Alan |b 11 |
| 700 | 1 | _ | |a Resnick, Adam C |b 12 |
| 700 | 1 | _ | |a Pinese, Mark |b 13 |
| 700 | 1 | _ | |a Lau, Loretta M S |b 14 |
| 700 | 1 | _ | |a Khuong-Quang, Dong-Anh |b 15 |
| 700 | 1 | _ | |a Dias, Kimberly |b 16 |
| 700 | 1 | _ | |a Goudie, Catherine |0 0000-0003-0670-3121 |b 17 |
| 700 | 1 | _ | |a Salkeld, Alison |b 18 |
| 700 | 1 | _ | |a Rokita, Jo Lynne |b 19 |
| 700 | 1 | _ | |a Jones, David T W |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 20 |u dkfz |
| 700 | 1 | _ | |a Juretic, Nikoleta |b 21 |
| 700 | 1 | _ | |a Hayden, Elisha |b 22 |
| 700 | 1 | _ | |a Pfister, Stefan M |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 23 |u dkfz |
| 700 | 1 | _ | |a Kramm, Christof M |b 24 |
| 700 | 1 | _ | |a Blattner-Johnson, Mirjam |0 P:(DE-He78)261d2b84aded878003e6e35d18113831 |b 25 |u dkfz |
| 700 | 1 | _ | |a Jabado, Nada |0 0000-0003-2485-3692 |b 26 |
| 700 | 1 | _ | |a Tsoli, Maria |0 0000-0003-1155-0510 |b 27 |
| 700 | 1 | _ | |a Vittorio, Orazio |b 28 |
| 700 | 1 | _ | |a Mueller, Sabine |b 29 |
| 700 | 1 | _ | |a Guo, Yiran |b 30 |
| 700 | 1 | _ | |a Tucker, Katherine |b 31 |
| 700 | 1 | _ | |a Waszak, Sebastian M |b 32 |
| 700 | 1 | _ | |a Perreault, Sebastien |b 33 |
| 700 | 1 | _ | |a Jones, Chris |b 34 |
| 700 | 1 | _ | |a Wong-Erasmus, Marie |b 35 |
| 700 | 1 | _ | |a Cowley, Mark J |b 36 |
| 700 | 1 | _ | |a Ziegler, David S |b 37 |
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