{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:42:00Z","timestamp":1760730120412},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2009,12,20]],"date-time":"2009-12-20T00:00:00Z","timestamp":1261267200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2010,6]]},"DOI":"10.1007\/s10689-009-9312-2","type":"journal-article","created":{"date-parts":[[2009,12,19]],"date-time":"2009-12-19T10:12:24Z","timestamp":1261217544000},"page":"245-251","source":"Crossref","is-referenced-by-count":26,"title":["No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome"],"prefix":"10.1007","volume":"9","author":[{"given":"Pia","family":"Vahteristo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taru A.","family":"Koski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"N\u00e4\u00e4tsaari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maija","family":"Kiuru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Auli","family":"Karhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riitta","family":"Herva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satu-Leena","family":"Sallinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Outi","family":"Vierimaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Bj\u00f6rck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phane","family":"Richard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Betty","family":"Gardie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didier","family":"Bessis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuel","family":"Van Glabeke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignacio","family":"Blanco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Houlston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leigha","family":"Senter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marja","family":"Hietala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristiina","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauri A.","family":"Aaltonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virpi","family":"Launonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rainer","family":"Lehtonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,12,20]]},"reference":[{"issue":"6","key":"9312_CR1","doi-asserted-by":"crossref","first-page":"3387","DOI":"10.1073\/pnas.051633798","volume":"98","author":"V Launonen","year":"2001","unstructured":"Launonen V, Vierimaa O, Kiuru M et al (2001) Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 98(6):3387\u20133392","journal-title":"Proc Natl Acad Sci USA"},{"issue":"5","key":"9312_CR2","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1086\/320124","volume":"68","author":"NA Alam","year":"2001","unstructured":"Alam NA, Bevan S, Churchman M et al (2001) Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3\u2013q43. Am J Hum Genet 68(5):1264\u20131269","journal-title":"Am J Hum Genet"},{"issue":"4","key":"9312_CR3","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/ng849","volume":"30","author":"IP Tomlinson","year":"2002","unstructured":"Tomlinson IP, Alam NA, Rowan AJ et al (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30(4):406\u2013410","journal-title":"Nat Genet"},{"issue":"6","key":"9312_CR4","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1136\/jmg.2005.036400","volume":"43","author":"HJ Lehtonen","year":"2006","unstructured":"Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK et al (2006) Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet 43(6):523\u2013526","journal-title":"J Med Genet"},{"issue":"10","key":"9312_CR5","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1097\/PAS.0b013e31804375b8","volume":"31","author":"MJ Merino","year":"2007","unstructured":"Merino MJ, TorresCabala C, Pinto P et al (2007) The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol 31(10):1578\u20131585","journal-title":"Am J Surg Pathol"},{"issue":"3","key":"9312_CR6","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/S0002-9440(10)61757-9","volume":"159","author":"M Kiuru","year":"2001","unstructured":"Kiuru M, Launonen V, Hietala M et al (2001) Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol 159(3):825\u2013829","journal-title":"Am J Pathol"},{"issue":"11","key":"9312_CR7","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1093\/hmg\/ddg148","volume":"12","author":"NA Alam","year":"2003","unstructured":"Alam NA, Rowan AJ, Wortham NC et al (2003) Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 12(11):1241\u20131252","journal-title":"Hum Mol Genet"},{"issue":"1","key":"9312_CR8","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1086\/376435","volume":"73","author":"JR Toro","year":"2003","unstructured":"Toro JR, Nickerson ML, Wei MH et al (2003) Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 73(1):95\u2013106","journal-title":"Am J Hum Genet"},{"issue":"4","key":"9312_CR9","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S1525-1578(10)60574-0","volume":"7","author":"NA Alam","year":"2005","unstructured":"Alam NA, Olpin S, Rowan A et al (2005) Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. J Mol Diagn 7(4):437\u2013443","journal-title":"J Mol Diagn"},{"issue":"1","key":"9312_CR10","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1111\/j.1365-2230.2004.01675.x","volume":"30","author":"I Chan","year":"2005","unstructured":"Chan I, Wong T, Martinez-Mir A et al (2005) Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. Clin Exp Dermatol 30(1):75\u201378","journal-title":"Clin Exp Dermatol"},{"issue":"3 Pt 1","key":"9312_CR11","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.jaad.2004.08.051","volume":"52","author":"GS Chuang","year":"2005","unstructured":"Chuang GS, Martinez-Mir A, Geyer A et al (2005) Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol 52(3 Pt 1):410\u2013416","journal-title":"J Am Acad Dermatol"},{"issue":"1","key":"9312_CR12","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1111\/j.1365-2230.2005.01977.x","volume":"31","author":"GS Chuang","year":"2006","unstructured":"Chuang GS, Martinez-Mir A, Engler DE et al (2006) Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene. Clin Exp Dermatol 31(1):118\u2013121","journal-title":"Clin Exp Dermatol"},{"issue":"9","key":"9312_CR13","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1111\/j.1600-0625.2006.00470.x","volume":"15","author":"S Badeloe","year":"2006","unstructured":"Badeloe S, van Geel M, van Steensel MA et al (2006) Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. Exp Dermatol 15(9):735\u2013741","journal-title":"Exp Dermatol"},{"issue":"1","key":"9312_CR14","first-page":"18","volume":"43","author":"MH Wei","year":"2006","unstructured":"Wei MH, Toure O, Glenn GM et al (2006) Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 43(1):18\u201327","journal-title":"J Med Genet"},{"issue":"4","key":"9312_CR15","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/ncponc0773","volume":"4","author":"MA Refae","year":"2007","unstructured":"Refae MA, Wong N, Patenaude F et al (2007) Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. Nat Clin Pract Oncol 4(4):256\u2013261","journal-title":"Nat Clin Pract Oncol"},{"issue":"1","key":"9312_CR16","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1365-2133.2005.06678.x","volume":"153","author":"NA Alam","year":"2005","unstructured":"Alam NA, Olpin S, Leigh IM et al (2005) Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. Br J Dermatol 153(1):11\u201317","journal-title":"Br J Dermatol"},{"issue":"5","key":"9312_CR17","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.humpath.2006.10.011","volume":"38","author":"HJ Lehtonen","year":"2007","unstructured":"Lehtonen HJ, Blanco I, Piulats JM et al (2007) Conventional renal cancer in a patient with fumarate hydratase mutation. Hum Pathol 38(5):793\u2013796","journal-title":"Hum Pathol"},{"issue":"6","key":"9312_CR18","doi-asserted-by":"crossref","first-page":"2074","DOI":"10.1016\/j.juro.2007.01.155","volume":"177","author":"RL Grubb 3rd","year":"2007","unstructured":"Grubb RL 3rd, Franks ME, Toro J et al (2007) Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. J Urol 177(6):2074\u20132079","journal-title":"J Urol"},{"issue":"2","key":"9312_CR19","first-page":"199","volume":"141","author":"NA Alam","year":"2005","unstructured":"Alam NA, Barclay E, Rowan AJ et al (2005) Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 141(2):199\u2013206","journal-title":"Arch Dermatol"},{"key":"9312_CR20","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1471-2350-9-20","volume":"9","author":"JP Bayley","year":"2008","unstructured":"Bayley JP, Launonen V, Tomlinson IP et al (2008) 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 9:20","journal-title":"BMC Med Genet"},{"issue":"2","key":"9312_CR21","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.cancergencyto.2008.01.010","volume":"183","author":"T Ahvenainen","year":"2008","unstructured":"Ahvenainen T, Lehtonen HJ, Lehtonen R et al (2008) Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. Cancer Genet Cytogenet 183(2):83\u201388","journal-title":"Cancer Genet Cytogenet"},{"issue":"1","key":"9312_CR22","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1038\/75514","volume":"25","author":"DF Gudbjartsson","year":"2000","unstructured":"Gudbjartsson DF, Jonasson K, Frigge ML et al (2000) Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25(1):12\u201313","journal-title":"Nat Genet"},{"issue":"8","key":"9312_CR23","doi-asserted-by":"crossref","first-page":"1730","DOI":"10.1093\/bioinformatics\/bth488","volume":"21","author":"H Thiele","year":"2005","unstructured":"Thiele H, Nurnberg P (2005) HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 21(8):1730\u20131732","journal-title":"Bioinformatics"},{"issue":"6","key":"9312_CR24","first-page":"1323","volume":"58","author":"E Sobel","year":"1996","unstructured":"Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58(6):1323\u20131337","journal-title":"Am J Hum Genet"},{"issue":"1","key":"9312_CR25","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","volume":"30","author":"GR Abecasis","year":"2002","unstructured":"Abecasis GR, Cherny SS, Cookson WO et al (2002) Merlin\u2013rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30(1):97\u2013101","journal-title":"Nat Genet"},{"issue":"4","key":"9312_CR26","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.ccr.2007.02.005","volume":"11","author":"PJ Pollard","year":"2007","unstructured":"Pollard PJ, Spencer-Dene B, Shukla D et al (2007) Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway. Cancer Cell 11(4):311\u2013319","journal-title":"Cancer Cell"},{"issue":"2","key":"9312_CR27","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ccr.2005.06.017","volume":"8","author":"JS Isaacs","year":"2005","unstructured":"Isaacs JS, Jung YJ, Mole DR et al (2005) HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 8(2):143\u2013153","journal-title":"Cancer Cell"},{"issue":"15","key":"9312_CR28","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1093\/hmg\/ddi227","volume":"14","author":"PJ Pollard","year":"2005","unstructured":"Pollard PJ, Briere JJ, Alam NA et al (2005) Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. Hum Mol Genet 14(15):2231\u20132239","journal-title":"Hum Mol Genet"},{"issue":"1","key":"9312_CR29","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.ccr.2004.11.022","volume":"7","author":"MA Selak","year":"2005","unstructured":"Selak MA, Armour SM, MacKenzie ED et al (2005) Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. Cancer Cell 7(1):77\u201385","journal-title":"Cancer Cell"},{"key":"9312_CR30","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1471-2350-6-39","volume":"6","author":"JP Bayley","year":"2005","unstructured":"Bayley JP, Devilee P, Taschner PE et al (2005) The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 6:39","journal-title":"BMC Med Genet"},{"issue":"1","key":"9312_CR31","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1086\/381054","volume":"74","author":"S Vanharanta","year":"2004","unstructured":"Vanharanta S, Buchta M, McWhinney SR et al (2004) Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 74(1):153\u2013159","journal-title":"Am J Hum Genet"},{"issue":"8","key":"9312_CR32","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1001\/jama.292.8.943","volume":"292","author":"HP Neumann","year":"2004","unstructured":"Neumann HP, Pawlu C, Peczkowska M et al (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292(8):943\u2013951","journal-title":"JAMA"},{"issue":"4","key":"9312_CR33","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1111\/j.1365-2265.2008.03274.x","volume":"69","author":"U Srirangalingam","year":"2008","unstructured":"Srirangalingam U, Walker L, Khoo B et al (2008) Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. Clin Endocrinol (Oxf) 69(4):587\u2013596","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"17","key":"9312_CR34","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1093\/jnci\/djn254","volume":"100","author":"C Ricketts","year":"2008","unstructured":"Ricketts C, Woodward ER, Killick P et al (2008) Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst 100(17):1260\u20131262","journal-title":"J Natl Cancer Inst"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-009-9312-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-009-9312-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-009-9312-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T21:46:01Z","timestamp":1559252761000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-009-9312-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12,20]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["9312"],"URL":"https:\/\/doi.org\/10.1007\/s10689-009-9312-2","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12,20]]}}}