{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T11:29:22Z","timestamp":1793532562648,"version":"4.5.0"},"reference-count":83,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T00:00:00Z","timestamp":1768608000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T00:00:00Z","timestamp":1768608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"F\u00f6rderstiftung MHH plus"},{"DOI":"10.13039\/100008672","name":"Wilhelm Sander-Stiftung","doi-asserted-by":"publisher","award":["2018.097.1"],"award-info":[{"award-number":["2018.097.1"]}],"id":[{"id":"10.13039\/100008672","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Medizinische Hochschule Hannover (MHH)"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Familial occurrence of gliomas has been reported in around 5% of patients. Studies on the genetic landscape of glioma predisposition are scarce. Here, leukocyte DNA of 213 adult glioma patients with a familial and\/or personal tumor history from 206 families was subjected to whole-exome sequencing. Germline variants (GVs) were analyzed using two approaches: (1) GVs in 164 established cancer predisposition genes (CPGs) or suspected glioma risk genes were extracted and classified; (2) the enrichment of genes with loss-of-function or deleterious missense GVs that were ultrarare or ClinVar likely pathogenic\/pathogenic in the glioma versus a control cohort (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009391) was determined. In 23% (48\/213) of glioma patients with a familial\/personal tumor history, GVs predicted to be deleterious in CPGs were detected. Of the mutated CPGs, 37% were involved in DNA damage response, including\n                    <jats:italic>ATM<\/jats:italic>\n                    ,\n                    <jats:italic>BRCA2<\/jats:italic>\n                    ,\n                    <jats:italic>PMS2<\/jats:italic>\n                    ,\n                    <jats:italic>POLE<\/jats:italic>\n                    .\n                    <jats:italic>ATM<\/jats:italic>\n                    GVs (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20096) preferentially predisposed to IDH-mutant astrocytoma (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.007) in patients that were significantly younger at diagnosis than patients without GVs (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.022).\n                    <jats:italic>BRCA2<\/jats:italic>\n                    GVs (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20095) were also significantly enriched in glioma patients in approach 2 (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.005). The other mutated CPGs, glioma risk or enriched novel genes play roles in diverse processes, including metabolism and signal transduction. Syn-\/metachronous non-brain tumors were diagnosed in 29% of glioma patients with GVs. In 11% of patients, the identified CPG GVs potentially sensitized to targeted therapies, such as PARP, immune checkpoint, or EGFR inhibitors. In conclusion, our study identifies CPGs and novel genes relevant in germline testing of glioma patients with a familial\/personal tumor history, possibly resulting in targeted treatment options.\n                  <\/jats:p>","DOI":"10.1007\/s00401-025-02972-6","type":"journal-article","created":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T13:17:22Z","timestamp":1768655842000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors"],"prefix":"10.1007","volume":"151","author":[{"given":"Frank","family":"Brand","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lily S.","family":"Rose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir H.","family":"Akbarzadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine A. M.","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Eckert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunnar","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Auber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisa","family":"F\u00f6rster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Beyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Geffers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Bartels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Lalk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manolis","family":"Polemikos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Friese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Sabel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philipp","family":"Schwenkenbecher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Kremer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arya","family":"Nabavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Samii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Lehmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Reifenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim K.","family":"Krauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Wiese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Hartmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruthild G.","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,17]]},"reference":[{"key":"2972_CR1","doi-asserted-by":"publisher","first-page":"3983","DOI":"10.3892\/mmr.2017.6489","volume":"15","author":"S Abbasi","year":"2017","unstructured":"Abbasi S, Rasouli M (2017) A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population. Mol Med Rep 15:3983\u20133988. https:\/\/doi.org\/10.3892\/mmr.2017.6489","journal-title":"Mol Med Rep"},{"key":"2972_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.2006.043257","volume":"44","author":"BP Alter","year":"2007","unstructured":"Alter BP, Rosenberg PS, Brody LC (2007) Clinical and molecular features associated with biallelic mutations in FANCD1\/BRCA2. J Med Genet 44:1\u20139. https:\/\/doi.org\/10.1136\/jmg.2006.043257","journal-title":"J Med Genet"},{"key":"2972_CR3","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1093\/jnci\/dju384","volume":"107","author":"MN Bainbridge","year":"2015","unstructured":"Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H et al (2015) Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst 107:384. https:\/\/doi.org\/10.1093\/jnci\/dju384","journal-title":"J Natl Cancer Inst"},{"key":"2972_CR4","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1002\/gcc.23054","volume":"61","author":"G Bedics","year":"2022","unstructured":"Bedics G, Kotmayer L, Zajta E, Hegyi LL, Br\u00fcckner E, Rajnai H et al (2022) Germline MUTYH mutations and high-grade gliomas: novel evidence for a potential association. Genes Chromosomes Cancer 61:622\u2013628. https:\/\/doi.org\/10.1002\/gcc.23054","journal-title":"Genes Chromosomes Cancer"},{"key":"2972_CR5","doi-asserted-by":"publisher","first-page":"e2200525","DOI":"10.1200\/po.22.00525","volume":"7","author":"PR Benusiglio","year":"2023","unstructured":"Benusiglio PR, Elder F, Touat M, Perrier A, Sanson M, Colas C et al (2023) Mismatch repair deficiency and Lynch syndrome among adult patients with glioma. JCO Precis Oncol 7:e2200525. https:\/\/doi.org\/10.1200\/po.22.00525","journal-title":"JCO Precis Oncol"},{"key":"2972_CR6","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1007\/s00401-017-1774-y","volume":"134","author":"U Beyer","year":"2017","unstructured":"Beyer U, Brand F, Martens H, Weder J, Christians A, Elyan N et al (2017) Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis. Acta Neuropathol 134:905\u2013922. https:\/\/doi.org\/10.1007\/s00401-017-1774-y","journal-title":"Acta Neuropathol"},{"key":"2972_CR7","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1016\/j.jcf.2022.10.001","volume":"22","author":"RJ Birch","year":"2023","unstructured":"Birch RJ, Peckham D, Wood HM, Quirke P, Konstant-Hambling R, Brownlee K et al (2023) The risk of colorectal cancer in individuals with mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: an English population-based study. J Cyst Fibros 22:499\u2013504. https:\/\/doi.org\/10.1016\/j.jcf.2022.10.001","journal-title":"J Cyst Fibros"},{"key":"2972_CR8","doi-asserted-by":"publisher","first-page":"2206","DOI":"10.1200\/jco.2016.66.6552","volume":"34","author":"E Bouffet","year":"2016","unstructured":"Bouffet E, Larouche V, Campbell BB, Merico D, de Borja R, Aronson M et al (2016) Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency. J Clin Oncol 34:2206\u20132211. https:\/\/doi.org\/10.1200\/jco.2016.66.6552","journal-title":"J Clin Oncol"},{"key":"2972_CR9","first-page":"19","volume-title":"World Health Organization Classification of Tumours of the Central Nervous System","author":"DJ Brat","year":"2021","unstructured":"Brat DJ, Cahill CD, Cimino PJ, Huse JT, Kleinschmidt-DeMasters BK, Komori T et al (2021) Astrocytoma, IDH-mutant. In: World Health Organization classification of tumours of the central nervous system, 5th edn. International Agency for Research on Cancer, Lyon, pp 19\u201327","edition":"5"},{"key":"2972_CR10","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1016\/j.cell.2013.09.034","volume":"155","author":"CW Brennan","year":"2013","unstructured":"Brennan CW, Verhaak RG, McKenna A, Campos B, Noushmehr H, Salama SR et al (2013) The somatic genomic landscape of glioblastoma. Cell 155:462\u2013477. https:\/\/doi.org\/10.1016\/j.cell.2013.09.034","journal-title":"Cell"},{"key":"2972_CR11","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1016\/j.cell.2017.09.048","volume":"171","author":"BB Campbell","year":"2017","unstructured":"Campbell BB, Light N, Fabrizio D, Zatzman M, Fuligni F, de Borja R et al (2017) Comprehensive analysis of hypermutation in human cancer. Cell 171:1042\u20131056. https:\/\/doi.org\/10.1016\/j.cell.2017.09.048","journal-title":"Cell"},{"key":"2972_CR12","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1530\/ec-20-0460","volume":"9","author":"C Cardot Bauters","year":"2020","unstructured":"Cardot Bauters C, Leteurtre E, Carnaille B, Do Cao C, Espiard S, Penven M et al (2020) Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B. Endocr Connect 9:1042\u20131050. https:\/\/doi.org\/10.1530\/ec-20-0460","journal-title":"Endocr Connect"},{"key":"2972_CR13","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1038\/s41408-021-00422-6","volume":"11","author":"C Catalano","year":"2021","unstructured":"Catalano C, Paramasivam N, Blocka J, Giangiobbe S, Huhn S, Schlesner M et al (2021) Characterization of rare germline variants in familial multiple myeloma. Blood Cancer J 11:33. https:\/\/doi.org\/10.1038\/s41408-021-00422-6","journal-title":"Blood Cancer J"},{"key":"2972_CR14","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1016\/j.ymgme.2011.03.013","volume":"103","author":"KW Chang","year":"2011","unstructured":"Chang KW, Chen HL, Chien YH, Chen TC, Yeh CT (2011) SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma. Mol Genet Metab 103:293\u2013296. https:\/\/doi.org\/10.1016\/j.ymgme.2011.03.013","journal-title":"Mol Genet Metab"},{"key":"2972_CR15","doi-asserted-by":"publisher","first-page":"eade2675","DOI":"10.1126\/sciadv.ade2675","volume":"9","author":"DJ Choi","year":"2023","unstructured":"Choi DJ, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC et al (2023) The genomic landscape of familial glioma. Sci Adv 9:eade2675. https:\/\/doi.org\/10.1126\/sciadv.ade2675","journal-title":"Sci Adv"},{"key":"2972_CR16","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1186\/s40478-019-0817-0","volume":"7","author":"A Christians","year":"2019","unstructured":"Christians A, Adel-Horowski A, Banan R, Lehmann U, Bartels S, Behling F et al (2019) The prognostic role of IDH mutations in homogeneously treated patients with anaplastic astrocytomas and glioblastomas. Acta Neuropathol Commun 7:156. https:\/\/doi.org\/10.1186\/s40478-019-0817-0","journal-title":"Acta Neuropathol Commun"},{"key":"2972_CR17","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1182\/blood-2013-04-490847","volume":"123","author":"R Clifford","year":"2014","unstructured":"Clifford R, Louis T, Robbe P, Ackroyd S, Burns A, Timbs AT et al (2014) SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage. Blood 123:1021\u20131031. https:\/\/doi.org\/10.1182\/blood-2013-04-490847","journal-title":"Blood"},{"key":"2972_CR18","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1038\/s41577-021-00633-9","volume":"22","author":"YJ Crow","year":"2022","unstructured":"Crow YJ, Stetson DB (2022) The type I interferonopathies: 10 years on. Nat Rev Immunol 22:471\u2013483. https:\/\/doi.org\/10.1038\/s41577-021-00633-9","journal-title":"Nat Rev Immunol"},{"key":"2972_CR19","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1038\/nature08617","volume":"462","author":"L Dang","year":"2009","unstructured":"Dang L, White DW, Gross S, Bennett BD, Bittinger MA, Driggers EM et al (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739\u2013744. https:\/\/doi.org\/10.1038\/nature08617","journal-title":"Nature"},{"key":"2972_CR20","doi-asserted-by":"publisher","first-page":"4770","DOI":"10.1158\/1078-0432.Ccr-23-0411","volume":"29","author":"A Das","year":"2023","unstructured":"Das A, Tabori U, Sambira Nahum LC, Collins NB, Deyell R, Dvir R et al (2023) Efficacy of Nivolumab in pediatric cancers with high mutation burden and mismatch repair deficiency. Clin Cancer Res 29:4770\u20134783. https:\/\/doi.org\/10.1158\/1078-0432.Ccr-23-0411","journal-title":"Clin Cancer Res"},{"key":"2972_CR21","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.cancergen.2015.11.005","volume":"209","author":"AJ Dodgshun","year":"2016","unstructured":"Dodgshun AJ, Sexton-Oates A, Saffery R, Sullivan MJ (2016) Biallelic FANCD1\/BRCA2 mutations predisposing to glioblastoma multiforme with multiple oncogenic amplifications. Cancer Genet 209:53\u201356. https:\/\/doi.org\/10.1016\/j.cancergen.2015.11.005","journal-title":"Cancer Genet"},{"key":"2972_CR22","doi-asserted-by":"publisher","first-page":"4858","DOI":"10.3390\/cancers14194858","volume":"14","author":"P Dubot","year":"2022","unstructured":"Dubot P, Astudillo L, Therville N, Carri\u00e9 L, Pettazzoni M, Cheillan D et al (2022) Potential role of sphingolipidoses-associated lysosphingolipids in cancer. Cancers 14:4858. https:\/\/doi.org\/10.3390\/cancers14194858","journal-title":"Cancers"},{"key":"2972_CR23","doi-asserted-by":"publisher","first-page":"e0262419","DOI":"10.1371\/journal.pone.0262419","volume":"17","author":"F Fidalgo","year":"2022","unstructured":"Fidalgo F, Torrezan GT, S\u00e1 BCS, Barros BDF, Moredo LF, Valieris R et al (2022) Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PLoS ONE 17:e0262419. https:\/\/doi.org\/10.1371\/journal.pone.0262419","journal-title":"PLoS ONE"},{"key":"2972_CR24","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1007\/s00401-021-02307-1","volume":"142","author":"A F\u00f6rster","year":"2021","unstructured":"F\u00f6rster A, Brand F, Banan R, Huneburg R, Weber CAM, Ewert W et al (2021) Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin. Acta Neuropathol 142:191\u2013210. https:\/\/doi.org\/10.1007\/s00401-021-02307-1","journal-title":"Acta Neuropathol"},{"key":"2972_CR25","doi-asserted-by":"publisher","first-page":"e128","DOI":"10.1097\/mph.0000000000002498","volume":"45","author":"CD Friedman","year":"2023","unstructured":"Friedman CD, DeBrosse S, Mitchell A, Horn J, Merrill M (2023) Case report: 2-year-old with Wilms tumors, familial heterozygous DIS3L2 mutation, and cutis marmorata telangiectatica congenita. J Pediatr Hematol Oncol 45:e128\u2013e130. https:\/\/doi.org\/10.1097\/mph.0000000000002498","journal-title":"J Pediatr Hematol Oncol"},{"key":"2972_CR26","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1056\/NEJMoa1903387","volume":"381","author":"T Golan","year":"2019","unstructured":"Golan T, Hammel P, Reni M, Van Cutsem E, Macarulla T, Hall MJ et al (2019) Maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer. N Engl J Med 381:317\u2013327. https:\/\/doi.org\/10.1056\/NEJMoa1903387","journal-title":"N Engl J Med"},{"key":"2972_CR27","doi-asserted-by":"publisher","first-page":"103863","DOI":"10.1016\/j.dnarep.2025.103863","volume":"152","author":"J Groslambert","year":"2025","unstructured":"Groslambert J, Sch\u00fctzenhofer K, Palazzo L, Ahel I (2025) PARPs and ADP-ribosyl hydrolases in cancer therapy: from drug targets to biomarkers. DNA Repair (Amst) 152:103863. https:\/\/doi.org\/10.1016\/j.dnarep.2025.103863","journal-title":"DNA Repair (Amst)"},{"key":"2972_CR28","doi-asserted-by":"publisher","first-page":"1237","DOI":"10.1016\/0360-3016(87)90200-8","volume":"13","author":"RM Hart","year":"1987","unstructured":"Hart RM, Kimler BF, Evans RG, Park CH (1987) Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia. Int J Radiat Oncol Biol Phys 13:1237\u20131240. https:\/\/doi.org\/10.1016\/0360-3016(87)90200-8","journal-title":"Int J Radiat Oncol Biol Phys"},{"key":"2972_CR29","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1007\/s10120-024-01504-7","volume":"27","author":"C Herrera-Pariente","year":"2024","unstructured":"Herrera-Pariente C, Bonjoch L, Mu\u00f1oz J, Fern\u00e0ndez G, Soares de Lima Y, Mahmood R et al (2024) CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions. Gastric Cancer 27:747\u2013759. https:\/\/doi.org\/10.1007\/s10120-024-01504-7","journal-title":"Gastric Cancer"},{"key":"2972_CR30","doi-asserted-by":"publisher","first-page":"2237","DOI":"10.1007\/s00701-018-3673-y","volume":"160","author":"B Hong","year":"2018","unstructured":"Hong B, Banan R, Christians A, Nakamura M, Lalk M, Lehmann U et al (2018) Cerebellar glioblastoma: a clinical series with contemporary molecular analysis. Acta Neurochir (Wien) 160:2237\u20132248. https:\/\/doi.org\/10.1007\/s00701-018-3673-y","journal-title":"Acta Neurochir (Wien)"},{"key":"2972_CR31","doi-asserted-by":"publisher","first-page":"1230","DOI":"10.1158\/2159-8290.Cd-16-0575","volume":"6","author":"TM Johanns","year":"2016","unstructured":"Johanns TM, Miller CA, Dorward IG, Tsien C, Chang E, Perry A et al (2016) Immunogenomics of hypermutated glioblastoma: a patient with germline POLE deficiency treated with checkpoint blockade immunotherapy. Cancer Discov 6:1230\u20131236. https:\/\/doi.org\/10.1158\/2159-8290.Cd-16-0575","journal-title":"Cancer Discov"},{"key":"2972_CR32","doi-asserted-by":"publisher","first-page":"5537","DOI":"10.1158\/1078-0432.Ccr-19-0032","volume":"25","author":"P Jonsson","year":"2019","unstructured":"Jonsson P, Lin AL, Young RJ, DiStefano NM, Hyman DM, Li BT et al (2019) Genomic correlates of disease progression and treatment response in prospectively characterized gliomas. Clin Cancer Res 25:5537\u20135547. https:\/\/doi.org\/10.1158\/1078-0432.Ccr-19-0032","journal-title":"Clin Cancer Res"},{"key":"2972_CR33","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1126\/science.2570460","volume":"245","author":"B Kerem","year":"1989","unstructured":"Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A et al (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073\u20131080. https:\/\/doi.org\/10.1126\/science.2570460","journal-title":"Science"},{"key":"2972_CR34","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1007\/s00401-020-02124-y","volume":"139","author":"B Kim","year":"2020","unstructured":"Kim B, Tabori U, Hawkins C (2020) An update on the CNS manifestations of brain tumor polyposis syndromes. Acta Neuropathol 139:703\u2013715. https:\/\/doi.org\/10.1007\/s00401-020-02124-y","journal-title":"Acta Neuropathol"},{"key":"2972_CR35","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1186\/s13014-020-01619-y","volume":"15","author":"N Kim","year":"2020","unstructured":"Kim N, Kim SH, Kang SG, Moon JH, Cho J, Suh CO et al (2020) ATM mutations improve radio-sensitivity in wild-type isocitrate dehydrogenase-associated high-grade glioma: retrospective analysis using next-generation sequencing data. Radiat Oncol 15:184. https:\/\/doi.org\/10.1186\/s13014-020-01619-y","journal-title":"Radiat Oncol"},{"key":"2972_CR36","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1093\/neuonc\/now013","volume":"18","author":"CN Kline","year":"2016","unstructured":"Kline CN, Joseph NM, Grenert JP, van Ziffle J, Yeh I, Bastian BC et al (2016) Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas. Neuro-Oncol 18:752\u2013753. https:\/\/doi.org\/10.1093\/neuonc\/now013","journal-title":"Neuro-Oncol"},{"key":"2972_CR37","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1007\/s11910-021-01149-4","volume":"21","author":"E Komlodi-Pasztor","year":"2021","unstructured":"Komlodi-Pasztor E, Blakeley JO (2021) Brain cancers in genetic syndromes. Curr Neurol Neurosci Rep 21:64. https:\/\/doi.org\/10.1007\/s11910-021-01149-4","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2972_CR38","doi-asserted-by":"publisher","first-page":"1523","DOI":"10.1093\/jnci\/djac151","volume":"114","author":"CP Kratz","year":"2022","unstructured":"Kratz CP, Smirnov D, Autry R, J\u00e4ger N, Waszak SM, Gro\u00dfhennig A et al (2022) Heterozygous BRCA1 and BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer. J Natl Cancer Inst 114:1523\u20131532. https:\/\/doi.org\/10.1093\/jnci\/djac151","journal-title":"J Natl Cancer Inst"},{"key":"2972_CR39","doi-asserted-by":"publisher","first-page":"1582","DOI":"10.1038\/s41418-024-01402-6","volume":"31","author":"L Lanzetti","year":"2024","unstructured":"Lanzetti L (2024) Oncometabolites at the crossroads of genetic, epigenetic and ecological alterations in cancer. Cell Death Differ 31:1582\u20131594. https:\/\/doi.org\/10.1038\/s41418-024-01402-6","journal-title":"Cell Death Differ"},{"key":"2972_CR40","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1038\/s41580-021-00394-2","volume":"22","author":"JH Lee","year":"2021","unstructured":"Lee JH, Paull TT (2021) Cellular functions of the protein kinase ATM and their relevance to human disease. Nat Rev Mol Cell Biol 22:796\u2013814. https:\/\/doi.org\/10.1038\/s41580-021-00394-2","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2972_CR41","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1200\/jco.21.02112","volume":"40","author":"S Li","year":"2022","unstructured":"Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL et al (2022) Cancer risks associated with BRCA1 and BRCA2 pathogenic variants. J Clin Oncol 40:1529\u20131541. https:\/\/doi.org\/10.1200\/jco.21.02112","journal-title":"J Clin Oncol"},{"key":"2972_CR42","doi-asserted-by":"publisher","first-page":"282","DOI":"10.3892\/ol.2023.13868","volume":"26","author":"M Liu","year":"2023","unstructured":"Liu M, Niu X, Liu H, Chen J (2023) Germline EGFR mutations in lung cancer (Review). Oncol Lett 26:282. https:\/\/doi.org\/10.3892\/ol.2023.13868","journal-title":"Oncol Lett"},{"key":"2972_CR43","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1126\/science.aam7344","volume":"355","author":"CJ Lord","year":"2017","unstructured":"Lord CJ, Ashworth A (2017) PARP inhibitors: synthetic lethality in the clinic. Science 355:1152\u20131158. https:\/\/doi.org\/10.1126\/science.aam7344","journal-title":"Science"},{"key":"2972_CR44","first-page":"39","volume-title":"World Health Organization Classification of Tumours of the Central Nervous System","author":"DN Louis","year":"2021","unstructured":"Louis DN, Aldape AK, Capper D, Giannini C, Horbinski CM, Ng HK et al (2021) Glioblastoma, IDH-wildtype. In: World Health Organization classification of tumours of the central nervous system, 5th edn. International Agency for Research on Cancer, Lyon, pp 39\u201355","edition":"5"},{"key":"2972_CR45","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1093\/neuonc\/noab106","volume":"23","author":"DN Louis","year":"2021","unstructured":"Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D et al (2021) The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol 23:1231\u20131251. https:\/\/doi.org\/10.1093\/neuonc\/noab106","journal-title":"Neuro Oncol"},{"key":"2972_CR46","doi-asserted-by":"publisher","first-page":"2129","DOI":"10.1056\/NEJMoa040938","volume":"350","author":"TJ Lynch","year":"2004","unstructured":"Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW et al (2004) Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 350:2129\u20132139. https:\/\/doi.org\/10.1056\/NEJMoa040938","journal-title":"N Engl J Med"},{"key":"2972_CR47","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1002\/(sici)1097-0215(19990505)81:33.0.co;2-0","volume":"81","author":"B Malmer","year":"1999","unstructured":"Malmer B, Gronberg H, Bergenheim AT, Lenner P, Henriksson R (1999) Familial aggregation of astrocytoma in northern Sweden: an epidemiological cohort study. Int J Cancer 81:366\u2013370. https:\/\/doi.org\/10.1002\/(sici)1097-0215(19990505)81:33.0.co;2-0","journal-title":"Int J Cancer"},{"key":"2972_CR48","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1016\/s1470-2045(20)30445-9","volume":"21","author":"A Marabelle","year":"2020","unstructured":"Marabelle A, Fakih M, Lopez J, Shah M, Shapira-Frommer R, Nakagawa K et al (2020) Association of tumour mutational burden with outcomes in patients with advanced solid tumours treated with pembrolizumab: prospective biomarker analysis of the multicohort, open-label, phase 2 KEYNOTE-158 study. Lancet Oncol 21:1353\u20131365. https:\/\/doi.org\/10.1016\/s1470-2045(20)30445-9","journal-title":"Lancet Oncol"},{"key":"2972_CR49","doi-asserted-by":"publisher","first-page":"1697","DOI":"10.1056\/NEJMoa1506859","volume":"373","author":"J Mateo","year":"2015","unstructured":"Mateo J, Carreira S, Sandhu S, Miranda S, Mossop H, Perez-Lopez R et al (2015) DNA-repair defects and olaparib in metastatic prostate cancer. N Engl J Med 373:1697\u20131708. https:\/\/doi.org\/10.1056\/NEJMoa1506859","journal-title":"N Engl J Med"},{"key":"2972_CR50","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1002\/ana.26716","volume":"94","author":"EM McCormick","year":"2023","unstructured":"McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D et al (2023) Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Ann Neurol 94:696\u2013712. https:\/\/doi.org\/10.1002\/ana.26716","journal-title":"Ann Neurol"},{"key":"2972_CR51","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1093\/nop\/npad033","volume":"10","author":"MF McDonald","year":"2023","unstructured":"McDonald MF, Prather LL, Helfer CR, Ludmir EB, Echeverria AE, Yust-Katz S et al (2023) Prevalence of pathogenic germline variants in adult-type diffuse glioma. Neurooncol Pract 10:482\u2013490. https:\/\/doi.org\/10.1093\/nop\/npad033","journal-title":"Neurooncol Pract"},{"key":"2972_CR52","doi-asserted-by":"publisher","first-page":"1779","DOI":"10.1038\/s41467-025-56944-1","volume":"16","author":"J Mitchell","year":"2025","unstructured":"Mitchell J, Camacho N, Shea P, Stopsack KH, Joseph V, Burren O et al (2025) Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases. Nat Commun 16:1779. https:\/\/doi.org\/10.1038\/s41467-025-56944-1","journal-title":"Nat Commun"},{"key":"2972_CR53","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1007\/bf02307420","volume":"135","author":"K Miyagi","year":"1995","unstructured":"Miyagi K, Mukawa J, Kinjo N, Horikawa K, Mekaru S, Nakasone S et al (1995) Astrocytoma linked to familial ataxia-telangiectasia. Acta Neurochir (Wien) 135:87\u201392. https:\/\/doi.org\/10.1007\/bf02307420","journal-title":"Acta Neurochir (Wien)"},{"key":"2972_CR54","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1159\/000536552","volume":"17","author":"J Mody","year":"2024","unstructured":"Mody J, Kamgar M (2024) Pancreatic adenocarcinoma with co-occurrence of KRAS and EGFR mutations: case report and literature review. Case Rep Oncol 17:399\u2013406. https:\/\/doi.org\/10.1159\/000536552","journal-title":"Case Rep Oncol"},{"key":"2972_CR55","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1001\/jamaoncol.2022.0476","volume":"8","author":"Y Momozawa","year":"2022","unstructured":"Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y et al (2022) Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants. JAMA Oncol 8:871\u2013878. https:\/\/doi.org\/10.1001\/jamaoncol.2022.0476","journal-title":"JAMA Oncol"},{"key":"2972_CR56","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/s1097-2765(01)00174-5","volume":"7","author":"ME Moynahan","year":"2001","unstructured":"Moynahan ME, Pierce AJ, Jasin M (2001) BRCA2 is required for homology-directed repair of chromosomal breaks. Mol Cell 7:263\u2013272. https:\/\/doi.org\/10.1016\/s1097-2765(01)00174-5","journal-title":"Mol Cell"},{"key":"2972_CR57","doi-asserted-by":"publisher","first-page":"2996","DOI":"10.1158\/1078-0432.Ccr-24-0562","volume":"30","author":"AM Nasser","year":"2024","unstructured":"Nasser AM, Melamed L, Wetzel EA, Chang JC, Nagashima H, Kitagawa Y et al (2024) CDKN2A\/B homozygous deletion sensitizes IDH-mutant glioma to CDK4\/6 inhibition. Clin Cancer Res 30:2996\u20133005. https:\/\/doi.org\/10.1158\/1078-0432.Ccr-24-0562","journal-title":"Clin Cancer Res"},{"key":"2972_CR58","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1038\/371075a0","volume":"371","author":"NC Nicolaides","year":"1994","unstructured":"Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM et al (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75\u201380. https:\/\/doi.org\/10.1038\/371075a0","journal-title":"Nature"},{"key":"2972_CR59","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1038\/ng.2503","volume":"45","author":"C Palles","year":"2013","unstructured":"Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P et al (2013) Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45:136\u2013144. https:\/\/doi.org\/10.1038\/ng.2503","journal-title":"Nat Genet"},{"key":"2972_CR60","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1007\/s10689-021-00256-y","volume":"21","author":"C Palles","year":"2022","unstructured":"Palles C, Martin L, Domingo E, Chegwidden L, McGuire J, Cuthill V et al (2022) The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management. Fam Cancer 21:197\u2013209. https:\/\/doi.org\/10.1007\/s10689-021-00256-y","journal-title":"Fam Cancer"},{"key":"2972_CR61","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1038\/s43018-021-00195-8","volume":"2","author":"A Passaro","year":"2021","unstructured":"Passaro A, J\u00e4nne PA, Mok T, Peters S (2021) Overcoming therapy resistance in EGFR-mutant lung cancer. Nat Cancer 2:377\u2013391. https:\/\/doi.org\/10.1038\/s43018-021-00195-8","journal-title":"Nat Cancer"},{"key":"2972_CR62","doi-asserted-by":"publisher","first-page":"1521","DOI":"10.3390\/biom13101521","volume":"13","author":"OL Posukh","year":"2023","unstructured":"Posukh OL, Maslova EA, Danilchenko VY, Zytsar MV, Orishchenko KE (2023) Functional consequences of pathogenic variants of the GJB2 gene (Cx26) localized in different Cx26 domains. Biomolecules 13:1521. https:\/\/doi.org\/10.3390\/biom13101521","journal-title":"Biomolecules"},{"key":"2972_CR63","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1038\/nature12981","volume":"505","author":"N Rahman","year":"2014","unstructured":"Rahman N (2014) Realizing the promise of cancer predisposition genes. Nature 505:302\u2013308. https:\/\/doi.org\/10.1038\/nature12981","journal-title":"Nature"},{"key":"2972_CR64","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1136\/jmg.2004.022673","volume":"42","author":"S Reid","year":"2005","unstructured":"Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H et al (2005) Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. J Med Genet 42:147\u2013151. https:\/\/doi.org\/10.1136\/jmg.2004.022673","journal-title":"J Med Genet"},{"key":"2972_CR65","doi-asserted-by":"publisher","first-page":"1066","DOI":"10.1126\/science.2475911","volume":"245","author":"JR Riordan","year":"1989","unstructured":"Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z et al (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066\u20131073. https:\/\/doi.org\/10.1126\/science.2475911","journal-title":"Science"},{"key":"2972_CR66","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1056\/NEJMoa1706450","volume":"377","author":"M Robson","year":"2017","unstructured":"Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N et al (2017) Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med 377:523\u2013533. https:\/\/doi.org\/10.1056\/NEJMoa1706450","journal-title":"N Engl J Med"},{"key":"2972_CR67","doi-asserted-by":"publisher","first-page":"1059","DOI":"10.1126\/science.2772657","volume":"245","author":"JM Rommens","year":"1989","unstructured":"Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M et al (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245:1059\u20131065. https:\/\/doi.org\/10.1126\/science.2772657","journal-title":"Science"},{"key":"2972_CR68","doi-asserted-by":"publisher","first-page":"1749","DOI":"10.1126\/science.7792600","volume":"268","author":"K Savitsky","year":"1995","unstructured":"Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L et al (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749\u20131753. https:\/\/doi.org\/10.1126\/science.7792600","journal-title":"Science"},{"key":"2972_CR69","doi-asserted-by":"publisher","first-page":"e1850","DOI":"10.1038\/cddis.2015.217","volume":"6","author":"G Sette","year":"2015","unstructured":"Sette G, Salvati V, Mottolese M, Visca P, Gallo E, Fecchi K et al (2015) Tyr1068-phosphorylated epidermal growth factor receptor (EGFR) predicts cancer stem cell targeting by erlotinib in preclinical models of wild-type EGFR lung cancer. Cell Death Dis 6:e1850. https:\/\/doi.org\/10.1038\/cddis.2015.217","journal-title":"Cell Death Dis"},{"key":"2972_CR70","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.3390\/cancers14041003","volume":"14","author":"HW Sim","year":"2022","unstructured":"Sim HW, Galanis E, Khasraw M (2022) PARP inhibitors in glioma: a review of therapeutic opportunities. Cancers 14:1003. https:\/\/doi.org\/10.3390\/cancers14041003","journal-title":"Cancers"},{"key":"2972_CR71","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.canlet.2010.12.020","volume":"302","author":"S Solyom","year":"2011","unstructured":"Solyom S, Winqvist R, Nikkil\u00e4 J, Rapakko K, Hirvikoski P, Kokkonen H et al (2011) Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family. Cancer Lett 302:113\u2013118. https:\/\/doi.org\/10.1016\/j.canlet.2010.12.020","journal-title":"Cancer Lett"},{"key":"2972_CR72","doi-asserted-by":"publisher","first-page":"1338","DOI":"10.1158\/1078-0432.Ccr-23-2094","volume":"30","author":"AD Staniszewska","year":"2024","unstructured":"Staniszewska AD, Pilger D, Gill SJ, Jamal K, Bohin N, Guzzetti S et al (2024) Preclinical characterization of AZD9574, a blood-brain barrier penetrant inhibitor of PARP1. Clin Cancer Res 30:1338\u20131351. https:\/\/doi.org\/10.1158\/1078-0432.Ccr-23-2094","journal-title":"Clin Cancer Res"},{"key":"2972_CR73","doi-asserted-by":"publisher","first-page":"441","DOI":"10.3390\/ijms18020441","volume":"18","author":"J Stirnemann","year":"2017","unstructured":"Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C et al (2017) A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 18:441. https:\/\/doi.org\/10.3390\/ijms18020441","journal-title":"Int J Mol Sci"},{"key":"2972_CR74","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ejca.2020.09.023","volume":"141","author":"A Stradella","year":"2020","unstructured":"Stradella A, Del Valle J, Rofes P, Vargas-Parra G, Salinas M, Gonz\u00e1lez S et al (2020) ERCC3, a new ovarian cancer susceptibility gene? Eur J Cancer 141:1\u20138. https:\/\/doi.org\/10.1016\/j.ejca.2020.09.023","journal-title":"Eur J Cancer"},{"key":"2972_CR75","doi-asserted-by":"publisher","first-page":"1086","DOI":"10.1038\/s41588-018-0170-4","volume":"50","author":"PL Sulkowski","year":"2018","unstructured":"Sulkowski PL, Sundaram RK, Oeck S, Corso CD, Liu Y, Noorbakhsh S et al (2018) Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair. Nat Genet 50:1086\u20131092. https:\/\/doi.org\/10.1038\/s41588-018-0170-4","journal-title":"Nat Genet"},{"key":"2972_CR76","doi-asserted-by":"publisher","first-page":"1831","DOI":"10.1056\/nejm199112263252602","volume":"325","author":"M Swift","year":"1991","unstructured":"Swift M, Morrell D, Massey RB, Chase CL (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325:1831\u20131836. https:\/\/doi.org\/10.1056\/nejm199112263252602","journal-title":"N Engl J Med"},{"key":"2972_CR77","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1002\/(sici)1096-8628(20000515)92:23.0.co;2-s","volume":"92","author":"I Tachibana","year":"2000","unstructured":"Tachibana I, Smith JS, Sato K, Hosek SM, Kimmel DW, Jenkins RB (2000) Investigation of germline PTEN, p53, p16(INK4A)\/p14(ARF), and CDK4 alterations in familial glioma. Am J Med Genet 92:136\u2013141. https:\/\/doi.org\/10.1002\/(sici)1096-8628(20000515)92:23.0.co;2-s","journal-title":"Am J Med Genet"},{"key":"2972_CR78","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1038\/s41586-020-2209-9","volume":"580","author":"M Touat","year":"2020","unstructured":"Touat M, Li YY, Boynton AN, Spurr LF, Iorgulescu JB, Bohrson CL et al (2020) Mechanisms and therapeutic implications of hypermutation in gliomas. Nature 580:517\u2013523. https:\/\/doi.org\/10.1038\/s41586-020-2209-9","journal-title":"Nature"},{"key":"2972_CR79","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/s13053-021-00181-2","volume":"19","author":"K Wallander","year":"2021","unstructured":"Wallander K, Thutkawkorapin J, Sahlin E, Lindblom A, Lagerstedt-Robinson K (2021) Massive parallel sequencing in a family with rectal cancer. Hered Cancer Clin Pract 19:23. https:\/\/doi.org\/10.1186\/s13053-021-00181-2","journal-title":"Hered Cancer Clin Pract"},{"key":"2972_CR80","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1186\/s40478-023-01689-5","volume":"11","author":"CAM Weber","year":"2023","unstructured":"Weber CAM, Kr\u00f6nke N, Volk V, Auber B, F\u00f6rster A, Trost D et al (2023) Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases \u03b5 and \u03b4 in glioma families. Acta Neuropathol Commun 11:184. https:\/\/doi.org\/10.1186\/s40478-023-01689-5","journal-title":"Acta Neuropathol Commun"},{"key":"2972_CR81","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1093\/oxfordjournals.aje.a009154","volume":"145","author":"M Wrensch","year":"1997","unstructured":"Wrensch M, Lee M, Miike R, Newman B, Barger G, Davis R et al (1997) Familial and personal medical history of cancer and nervous system conditions among adults with glioma and controls. Am J Epidemiol 145:581\u2013593. https:\/\/doi.org\/10.1093\/oxfordjournals.aje.a009154","journal-title":"Am J Epidemiol"},{"key":"2972_CR82","doi-asserted-by":"publisher","first-page":"966020","DOI":"10.3389\/fonc.2022.966020","volume":"12","author":"Q Zhang","year":"2022","unstructured":"Zhang Q, Ju Y, You X, Sun T, Ding Y (2022) Case report: identification of a novel heterozygous germline ERCC2 mutation in a patient with dermatofibrosarcoma protuberans. Front Oncol 12:966020. https:\/\/doi.org\/10.3389\/fonc.2022.966020","journal-title":"Front Oncol"},{"key":"2972_CR83","doi-asserted-by":"publisher","first-page":"53819","DOI":"10.18632\/oncotarget.17734","volume":"8","author":"T Zhao","year":"2017","unstructured":"Zhao T, Mu X, You Q (2017) Succinate: an initiator in tumorigenesis and progression. Oncotarget 8:53819\u201353828. https:\/\/doi.org\/10.18632\/oncotarget.17734","journal-title":"Oncotarget"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-025-02972-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00401-025-02972-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-025-02972-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T13:17:24Z","timestamp":1768655844000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00401-025-02972-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,17]]},"references-count":83,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["2972"],"URL":"https:\/\/doi.org\/10.1007\/s00401-025-02972-6","relation":{},"ISSN":["1432-0533"],"issn-type":[{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,17]]},"assertion":[{"value":"26 August 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 December 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 December 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 January 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"J.K.K. is a consultant to Medtronic, Boston Scientific, Aleva and Inomed. The other authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was approved by the appropriate institutional research ethics committees. All procedures were in accordance with their ethical standards and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}}],"article-number":"6"}}