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000299789 1001_ $$aMateos, Marion K$$b0
000299789 245__ $$aGermline analysis of an international cohort of pediatric diffuse midline glioma patients.
000299789 260__ $$aOxford$$bOxford Univ. Press$$c2025
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000299789 520__ $$aFactors that drive the development of diffuse midline gliomas (DMG) are unknown. Our study aimed to determine the prevalence of pathogenic/likely pathogenic (P/LP) germline variants in pediatric patients with DMG.We assembled an international cohort of 252 pediatric patients with DMG, including diffuse intrinsic pontine glioma (n=153), with germline whole genome or whole exome sequencing.We identified P/LP germline variants in cancer predisposition genes in 7.5% (19/252) of patients. Tumor profiles differed, with absence of somatic drivers in the PI3K/mTOR pathway in patients with germline P/LP variants versus those without (P = 0.023). P/LP germline variants were recurrent in homologous recombination (n=9; BRCA1, BRCA2, PALB2) and Fanconi anemia genes (n=4). Somatic findings established that the germline variants definitively contributed to tumorigenesis in at least 1% of cases. One patient with recurrent DMG and pathogenic germline variants (BRCA2, FANCE) showed near-complete radiological response to PARP and immune checkpoint inhibition.Our study determined the prevalence of pathogenic germline variants in pediatric DMG, and suggests a role in tumorigenesis for a subset of patients.
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000299789 650_7 $$2Other$$aPARP inhibitor
000299789 650_7 $$2Other$$adiffuse midline glioma
000299789 650_7 $$2Other$$agermline variants
000299789 650_7 $$2Other$$ahomologous recombination
000299789 650_7 $$2Other$$apediatric
000299789 7001_ $$aAjuyah, Pamela$$b1
000299789 7001_ $$00000-0001-6880-5428$$aFuentes-Bolanos, Noemi$$b2
000299789 7001_ $$00000-0003-2270-8088$$aEl-Kamand, Sam$$b3
000299789 7001_ $$aBarahona, Paulette$$b4
000299789 7001_ $$aAltekoester, Ann-Kristin$$b5
000299789 7001_ $$aMayoh, Chelsea$$b6
000299789 7001_ $$aHolliday, Holly$$b7
000299789 7001_ $$aLiu, Jie$$b8
000299789 7001_ $$aCui, Louise$$b9
000299789 7001_ $$0P:(DE-He78)c0538fae462bd98e3cd8d54ed885b0eb$$aPfaff, Elke$$b10$$udkfz
000299789 7001_ $$aMackay, Alan$$b11
000299789 7001_ $$aResnick, Adam C$$b12
000299789 7001_ $$aPinese, Mark$$b13
000299789 7001_ $$aLau, Loretta M S$$b14
000299789 7001_ $$aKhuong-Quang, Dong-Anh$$b15
000299789 7001_ $$aDias, Kimberly$$b16
000299789 7001_ $$00000-0003-0670-3121$$aGoudie, Catherine$$b17
000299789 7001_ $$aSalkeld, Alison$$b18
000299789 7001_ $$aRokita, Jo Lynne$$b19
000299789 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b20$$udkfz
000299789 7001_ $$aJuretic, Nikoleta$$b21
000299789 7001_ $$aHayden, Elisha$$b22
000299789 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b23$$udkfz
000299789 7001_ $$aKramm, Christof M$$b24
000299789 7001_ $$0P:(DE-He78)261d2b84aded878003e6e35d18113831$$aBlattner-Johnson, Mirjam$$b25$$udkfz
000299789 7001_ $$00000-0003-2485-3692$$aJabado, Nada$$b26
000299789 7001_ $$00000-0003-1155-0510$$aTsoli, Maria$$b27
000299789 7001_ $$aVittorio, Orazio$$b28
000299789 7001_ $$aMueller, Sabine$$b29
000299789 7001_ $$aGuo, Yiran$$b30
000299789 7001_ $$aTucker, Katherine$$b31
000299789 7001_ $$aWaszak, Sebastian M$$b32
000299789 7001_ $$aPerreault, Sebastien$$b33
000299789 7001_ $$aJones, Chris$$b34
000299789 7001_ $$aWong-Erasmus, Marie$$b35
000299789 7001_ $$aCowley, Mark J$$b36
000299789 7001_ $$aZiegler, David S$$b37
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