{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T01:58:39Z","timestamp":1794362319653,"version":"4.9.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2018,7,16]],"date-time":"2018-07-16T00:00:00Z","timestamp":1531699200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2018,8]]},"DOI":"10.1038\/s41588-018-0170-4","type":"journal-article","created":{"date-parts":[[2018,7,13]],"date-time":"2018-07-13T16:29:23Z","timestamp":1531499363000},"page":"1086-1092","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":209,"title":["Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair"],"prefix":"10.1038","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5745-1158","authenticated-orcid":false,"given":"Parker L.","family":"Sulkowski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranjini K.","family":"Sundaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9695-8771","authenticated-orcid":false,"given":"Sebastian","family":"Oeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher D.","family":"Corso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfeng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3163-2735","authenticated-orcid":false,"given":"Seth","family":"Noorbakhsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9055-5338","authenticated-orcid":false,"given":"Monica","family":"Niger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Boeke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daiki","family":"Ueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aravind Nambiar","family":"Kalathil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xun","family":"Bao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Shuch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3255-0467","authenticated-orcid":false,"given":"Ranjit S.","family":"Bindra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4525-5560","authenticated-orcid":false,"given":"Peter M.","family":"Glazer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,7,16]]},"reference":[{"key":"170_CR1","doi-asserted-by":"publisher","first-page":"1578","DOI":"10.1097\/PAS.0b013e31804375b8","volume":"31","author":"MJ Merino","year":"2007","unstructured":"Merino, M. J., Torres-Cabala, C., Pinto, P. & Linehan, W. M. The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am. J. Surg. Pathol. 31, 1578\u20131585 (2007).","journal-title":"Am. J. Surg. Pathol."},{"key":"170_CR2","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1055\/s-0032-1304594","volume":"44","author":"A Buffet","year":"2012","unstructured":"Buffet, A. A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. Horm. Metab. Res. 44, 359\u2013366 (2012).","journal-title":"Horm. Metab. Res."},{"key":"170_CR3","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1002\/ajmg.a.33384","volume":"152A","author":"RN Schimke","year":"2010","unstructured":"Schimke, R. N., Collins, D. L. & Stolle, C. A. Paraganglioma, neuroblastoma, and a SDHB mutation: resolution of a 30-year-old mystery. Am. J. Med. Genet. A 152A, 1531\u20131535 (2010).","journal-title":"Am. J. Med. Genet. A"},{"key":"170_CR4","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1055\/s-0031-1301302","volume":"44","author":"AP Gimenez-Roqueplo","year":"2012","unstructured":"Gimenez-Roqueplo, A.-P., Dahia, P. L. & Robledo, M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm. Metab. Res. 44, 328\u2013333 (2012).","journal-title":"Horm. Metab. Res."},{"key":"170_CR5","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1101\/gad.191056.112","volume":"26","author":"M Xiao","year":"2012","unstructured":"Xiao, M. et al. Inhibition of \u03b1-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. Genes Dev. 26, 1326\u20131338 (2012).","journal-title":"Genes Dev."},{"key":"170_CR6","doi-asserted-by":"publisher","first-page":"eaal2463","DOI":"10.1126\/scitranslmed.aal2463","volume":"9","author":"PL Sulkowski","year":"2017","unstructured":"Sulkowski, P. L. et al. 2-Hydroxyglutarate produced by neomorphic IDH mutations suppresses homologous recombination and induces PARP inhibitor sensitivity. Sci. Transl. Med. 9, eaal2463 (2017).","journal-title":"Sci. Transl. Med."},{"key":"170_CR7","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.cancergencyto.2009.08.018","volume":"196","author":"Y Yang","year":"2010","unstructured":"Yang, Y. et al. UOK 262 cell line, fumarate hydratase deficient (FH-\/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer. Cancer Genet. Cytogenet. 196, 45\u201355 (2010).","journal-title":"Cancer Genet. Cytogenet."},{"key":"170_CR8","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/j.cancergen.2012.05.001","volume":"205","author":"Y Yang","year":"2012","unstructured":"Yang, Y. et al. A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer. Cancer Genet. 205, 377\u2013390 (2012).","journal-title":"Cancer Genet."},{"key":"170_CR9","first-page":"6639","volume":"35","author":"V Perrier-Trudova","year":"2015","unstructured":"Perrier-Trudova, V. et al. Fumarate hydratase-deficient cell line NCCFH1 as a new in vitro model of hereditary papillary renal cell carcinoma type 2. Anticancer Res. 35, 6639\u20136653 (2015).","journal-title":"Anticancer Res."},{"key":"170_CR10","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1158\/1541-7786.MCR-15-0399","volume":"14","author":"JR Czochor","year":"2016","unstructured":"Czochor, J. R., Sulkowski, P. & Glazer, P. M. miR-155 overexpression promotes genomic instability by reducing high-fidelity polymerase delta expression and activating error-prone DSB repair. Mol. Cancer Res. 14, 363\u2013373 (2016).","journal-title":"Mol. Cancer Res."},{"key":"170_CR11","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms13304","volume":"7","author":"R Bahal","year":"2016","unstructured":"Bahal, R. et al. In vivo correction of anaemia in \u03b2-thalassemic mice by \u03b3PNA-mediated gene editing with nanoparticle delivery. Nat. Commun. 7, 13304 (2016).","journal-title":"Nat. Commun."},{"key":"170_CR12","doi-asserted-by":"publisher","first-page":"4647","DOI":"10.18632\/oncotarget.23470","volume":"9","author":"SE Scanlon","year":"2017","unstructured":"Scanlon, S. E., Sulkowski, P. L. & Glazer, P. M. Suppression of homology-dependent DNA double-strand break repair induces PARP inhibitor sensitivity in VHL-deficient human renal cell carcinoma. Oncotarget 9, 4647\u20134660 (2017).","journal-title":"Oncotarget"},{"key":"170_CR13","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1093\/carcin\/bgx038","volume":"38","author":"SE Scanlon","year":"2017","unstructured":"Scanlon, S. E., Scanlon, C. D., Hegan, D. C., Sulkowski, P. L. & Glazer, P. M. Nickel induces transcriptional down-regulation of DNA repair pathways in tumorigenic and non-tumorigenic lung cells. Carcinogenesis 38, 627\u2013637 (2017).","journal-title":"Carcinogenesis"},{"key":"170_CR14","doi-asserted-by":"publisher","first-page":"2633","DOI":"10.1101\/gad.13.20.2633","volume":"13","author":"AJ Pierce","year":"1999","unstructured":"Pierce, A. J., Johnson, R. D., Thompson, L. H. & Jasin, M. XRCC3 promotes homology-directed repair of DNA damage in mammalian cells. Genes Dev. 13, 2633\u20132638 (1999).","journal-title":"Genes Dev."},{"key":"170_CR15","doi-asserted-by":"publisher","first-page":"e115","DOI":"10.1093\/nar\/gkt255","volume":"41","author":"RS Bindra","year":"2013","unstructured":"Bindra, R. S., Goglia, A. G., Jasin, M. & Powell, S. N. Development of an assay to measure mutagenic non-homologous end-joining repair activity in mammalian cells. Nucleic Acids Res. 41, e115 (2013).","journal-title":"Nucleic Acids Res."},{"key":"170_CR16","doi-asserted-by":"publisher","first-page":"21376","DOI":"10.1074\/jbc.M113.491514","volume":"288","author":"LC Young","year":"2013","unstructured":"Young, L. C., McDonald, D. W. & Hendzel, M. J. Kdm4b histone demethylase is a DNA damage response protein and confers a survival advantage following \u03b3-irradiation. J. Biol. Chem. 288, 21376\u201321388 (2013).","journal-title":"J. Biol. Chem."},{"key":"170_CR17","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.1038\/emboj.2012.47","volume":"31","author":"FA Mallette","year":"2012","unstructured":"Mallette, F. A. et al. RNF8- and RNF168-dependent degradation of KDM4A\/JMJD2A triggers 53BP1 recruitment to DNA damage sites. EMBO J. 31, 1865\u20131878 (2012).","journal-title":"EMBO J."},{"key":"170_CR18","doi-asserted-by":"publisher","first-page":"2936","DOI":"10.1158\/0008-5472.CAN-12-4300","volume":"73","author":"WL Berry","year":"2013","unstructured":"Berry, W. L. & Janknecht, R. KDM4\/JMJD2 histone demethylases: epigenetic regulators in cancer cells. Cancer Res. 73, 2936\u20132942 (2013).","journal-title":"Cancer Res."},{"key":"170_CR19","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1016\/j.molonc.2011.07.001","volume":"5","author":"T Helleday","year":"2011","unstructured":"Helleday, T. The underlying mechanism for the PARP and BRCA synthetic lethality: clearing up the misunderstandings. Mol. Oncol. 5, 387\u2013393 (2011).","journal-title":"Mol. Oncol."},{"key":"170_CR20","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1038\/nrc.2015.21","volume":"16","author":"CJ Lord","year":"2016","unstructured":"Lord, C. J. & Ashworth, A. BRCAness revisited. Nat. Rev. Cancer 16, 110\u2013120 (2016).","journal-title":"Nat. Rev. Cancer"},{"key":"170_CR21","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1667\/RR14746.1","volume":"188","author":"S Oeck","year":"2017","unstructured":"Oeck, S. et al. The Focinator v2-0: graphical interface, four channels, colocalization analysis and cell phase identification. Radiat. Res. 188, 114\u2013120 (2017).","journal-title":"Radiat. Res."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41588-018-0170-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41588-018-0170-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41588-018-0170-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T06:22:21Z","timestamp":1720419741000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41588-018-0170-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,16]]},"references-count":21,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["170"],"URL":"https:\/\/doi.org\/10.1038\/s41588-018-0170-4","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,16]]},"assertion":[{"value":"11 July 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 June 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 July 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}