{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:42:53Z","timestamp":1762004573619},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Res Notes"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/1756-0500-7-203","type":"journal-article","created":{"date-parts":[[2014,3,31]],"date-time":"2014-03-31T23:01:32Z","timestamp":1396306892000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas"],"prefix":"10.1186","volume":"7","author":[{"given":"Masaomi","family":"Kuwada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshitomo","family":"Chihara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Lou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumasa","family":"Torimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoriaki","family":"Kagebayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taro","family":"Shuin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyohide","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroki","family":"Kuniyasu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoji","family":"Samma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,3,31]]},"reference":[{"key":"2724_CR1","doi-asserted-by":"publisher","first-page":"3387","DOI":"10.1073\/pnas.051633798","volume":"98","author":"V Launonen","year":"2001","unstructured":"Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA: Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA. 2001, 98: 3387-3392. 10.1073\/pnas.051633798.","journal-title":"Proc Natl Acad Sci USA"},{"key":"2724_CR2","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1007\/s10689-009-9306-0","volume":"9","author":"I Alrashdi","year":"2010","unstructured":"Alrashdi I, Levine S, Paterson J, Saxena R, Patel SR, Depani S, Hargrave DR, Pritchard-Jones K, Hodgson SV: Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient. Fam Cancer. 2010, 9: 239-243. 10.1007\/s10689-009-9306-0.","journal-title":"Fam Cancer"},{"key":"2724_CR3","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1038\/ng849","volume":"30","author":"IP Tomlinson","year":"2002","unstructured":"Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittom\u00e4ki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA, Multiple Leiomyoma Consortium: Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002, 30: 406-410. 10.1038\/ng849.","journal-title":"Nat Genet"},{"key":"2724_CR4","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.1093\/humrep\/des105","volume":"27","author":"J Tolvanen","year":"2012","unstructured":"Tolvanen J, Uimari O, Ryyn\u00e4nen M, Aaltonen LA, Vahteristo P: Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening. Hum Reprod. 2012, 27: 1865-1869. 10.1093\/humrep\/des105.","journal-title":"Hum Reprod"},{"key":"2724_CR5","unstructured":"TCA Cycle Gene Mutation Database: Fumarate Hydratase (FH).http:\/\/chromium.liacs.nl\/LOVD2\/SDH\/home.php?select_db=FH,"},{"key":"2724_CR6","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1200\/JCO.20.1.289","volume":"20","author":"RJ Motzer","year":"2002","unstructured":"Motzer RJ, Bacik J, Murphy BA, Russo P, Mazumdar M: Interferon-alfa as a comparative treatment for clinical trials of new therapies against advanced renal cell carcinoma. J Clin Oncol. 2002, 20: 289-296. 10.1200\/JCO.20.1.289.","journal-title":"J Clin Oncol"},{"key":"2724_CR7","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1007\/s00432-002-0374-x","volume":"128","author":"S Ashida","year":"2002","unstructured":"Ashida S, Nishimori I, Tanimura M, Onishi S, Shuin T: Effects of von Hippel-Lindau gene mutation and methylation status on expression of transmembrane carbonic anhydrases in renal cell carcinoma. J Cancer Res Clin Oncol. 2002, 128: 561-568. 10.1007\/s00432-002-0374-x.","journal-title":"J Cancer Res Clin Oncol"},{"key":"2724_CR8","first-page":"4554","volume":"62","author":"M Kiuru","year":"2002","unstructured":"Kiuru M, Lehtonen R, Arola J, Salovaara R, J\u00e4rvinen H, Aittom\u00e4ki K, Sj\u00f6berg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, Launonen V, Karhu A, Aaltonen LA: Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Cancer Res. 2002, 62: 4554-4557.","journal-title":"Cancer Res"},{"key":"2724_CR9","unstructured":"Sorting Intolerant from Tolerant (SIFT).http:\/\/sift.jcvi.org\/,"},{"key":"2724_CR10","unstructured":"Polymorphism Phenotyping-2 (Polyphen-2).http:\/\/genetics.bwh.harvard.edu\/pph,"},{"key":"2724_CR11","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1016\/j.eururo.2010.08.031","volume":"58","author":"J Verine","year":"2010","unstructured":"Verine J, Pluvinage A, Bousquet G, Lehmann-Che J, de Bazelaire C, Soufir N, Mongiat-Artus P: Hereditary renal cancer syndromes: an update of a systematic review. Eur Urol. 2010, 58: 701-710. 10.1016\/j.eururo.2010.08.031.","journal-title":"Eur Urol"},{"key":"2724_CR12","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1016\/j.hoc.2011.04.004","volume":"25","author":"L Li","year":"2011","unstructured":"Li L, Kaelin WG: New insights into the biology of renal cell carcinoma. Hematol Oncol Clin North Am. 2011, 25: 667-686. 10.1016\/j.hoc.2011.04.004.","journal-title":"Hematol Oncol Clin North Am"},{"key":"2724_CR13","doi-asserted-by":"publisher","first-page":"4667","DOI":"10.1158\/1078-0432.CCR-06-2510","volume":"13","author":"G Bratslavsky","year":"2007","unstructured":"Bratslavsky G, Sudarshan S, Neckers L, Linehan WM: Pseudohypoxic pathways in renal cell carcinoma. Clin Cancer Res. 2007, 13: 4667-4671. 10.1158\/1078-0432.CCR-06-2510.","journal-title":"Clin Cancer Res"},{"key":"2724_CR14","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1007\/s10689-009-9312-2","volume":"9","author":"P Vahteristo","year":"2010","unstructured":"Vahteristo P, Koski TA, N\u00e4\u00e4tsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Bj\u00f6rck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittom\u00e4ki K, Aaltonen LA, Launonen V, Lehtonen R: No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome. Fam Cancer. 2010, 9: 245-551. 10.1007\/s10689-009-9312-2.","journal-title":"Fam Cancer"},{"key":"2724_CR15","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/1471-2350-9-20","volume":"9","author":"JP Bayley","year":"2008","unstructured":"Bayley JP, Launonen V, Tomlinson IP: The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008, 9: 20-","journal-title":"BMC Med Genet"},{"key":"2724_CR16","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1159\/000321336","volume":"221","author":"F Rongioletti","year":"2010","unstructured":"Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B: A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). Dermatology. 2010, 221: 378-380. 10.1159\/000321336.","journal-title":"Dermatology"},{"key":"2724_CR17","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1007\/s10689-011-9428-z","volume":"10","author":"HJ Lehtonen","year":"2011","unstructured":"Lehtonen HJ: Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Fam Cancer. 2011, 10: 397-411. 10.1007\/s10689-011-9428-z.","journal-title":"Fam Cancer"},{"key":"2724_CR18","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1007\/s12032-009-9177-0","volume":"26","author":"JP Dutcher","year":"2009","unstructured":"Dutcher JP, de Souza P, McDermott D, Figlin RA, Berkenblit A, Thiele A, Krygowski M, Strahs A, Feingold J, Hudes G: Effect of temsirolimus versus interferon-alpha on outcome of patients with advanced renal cell carcinoma of different tumor histologies. Med Oncol. 2009, 26: 202-209. 10.1007\/s12032-009-9177-0.","journal-title":"Med Oncol"},{"key":"2724_CR19","doi-asserted-by":"publisher","first-page":"5788","DOI":"10.1200\/JCO.2008.18.8821","volume":"27","author":"MS Gordon","year":"2009","unstructured":"Gordon MS, Hussey M, Nagle RB, Lara PN, Mack PC, Dutcher J, Samlowski W, Clark JI, Quinn DI, Pan CX, Crawford D:Phase II study of erlotinib in patients with locally advanced or metastatic papillary histology renal cell cancer: SWOG S0317. J Clin Oncol. 2009, 27: 5788-5793. 10.1200\/JCO.2008.18.8821.","journal-title":"J Clin Oncol"},{"key":"2724_CR20","volume-title":"A phase II study of bevacizumab and erlotinib in subjects with advanced hereditary leiomyomatosis and renal cell carcinoma","author":"NIH","year":"2010","unstructured":"NIH: A phase II study of bevacizumab and erlotinib in subjects with advanced hereditary leiomyomatosis and renal cell carcinoma. 2010,http:\/\/clinicaltrials.gov\/show\/NCT01130519,"},{"key":"2724_CR21","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1111\/j.1399-0004.2010.01486.x","volume":"79","author":"DL Smit","year":"2011","unstructured":"Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH: Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet. 2011, 79: 49-59. 10.1111\/j.1399-0004.2010.01486.x.","journal-title":"Clin Genet"}],"container-title":["BMC Research Notes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1756-0500-7-203.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T03:18:32Z","timestamp":1630552712000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcresnotes.biomedcentral.com\/articles\/10.1186\/1756-0500-7-203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,31]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["2724"],"URL":"https:\/\/doi.org\/10.1186\/1756-0500-7-203","relation":{},"ISSN":["1756-0500"],"issn-type":[{"value":"1756-0500","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,31]]},"assertion":[{"value":"27 March 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 March 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 March 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"203"}}