{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:51:13Z","timestamp":1790704273608,"version":"4.1.0"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s13023-017-0701-6","type":"journal-article","created":{"date-parts":[[2017,9,6]],"date-time":"2017-09-06T09:26:44Z","timestamp":1504690004000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Fabry disease and incidence of cancer"],"prefix":"10.1186","volume":"12","author":[{"given":"Sarah","family":"Bird","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Efthymios","family":"Hadjimichael","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atul","family":"Mehta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma","family":"Ramaswami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4531-9173","authenticated-orcid":false,"given":"Derralynn","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,9,6]]},"reference":[{"issue":"1","key":"701_CR1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","volume":"5","author":"DP Germain","year":"2010","unstructured":"Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5(1):30.","journal-title":"Orphanet J Rare Dis."},{"issue":"4","key":"701_CR2","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1136\/jmg.2005.036327","volume":"43","author":"PB Deegan","year":"2006","unstructured":"Deegan PB, Baehner AF, Romero M\u00c1, Hughes DA, Kampmann C, Beck M. Natural history of Fabry disease in females in the Fabry outcome survey. J Med Genet. 2006;43(4):347\u201352.","journal-title":"J Med Genet"},{"issue":"1","key":"701_CR3","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cge.12613","volume":"89","author":"L Echevarria","year":"2016","unstructured":"Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016;89(1):44\u201354.","journal-title":"Clin Genet"},{"issue":"2","key":"701_CR4","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.gene.2012.06.013","volume":"505","author":"D Elstein","year":"2012","unstructured":"Elstein D, Schachamorov E, Beeri R, Altarescu G. X-inactivation in Fabry disease. Gene. 2012;505(2):266\u20138.","journal-title":"Gene"},{"issue":"8","key":"701_CR5","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","volume":"105","author":"JM Aerts","year":"2008","unstructured":"Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Ntl Acad Sci. 2008;105(8):2812\u20137.","journal-title":"Proc Ntl Acad Sci"},{"key":"701_CR6","doi-asserted-by":"crossref","unstructured":"Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2016;15","DOI":"10.1681\/ASN.2016090964"},{"issue":"1","key":"701_CR7","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.jjcc.2010.08.003","volume":"57","author":"CJ Lee","year":"2011","unstructured":"Lee CJ, Fan X, Guo X, Medin JA. Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease. J Cardiol. 2011;57(1):115\u201322.","journal-title":"J Cardiol"},{"issue":"1","key":"701_CR8","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1750-1172-4-21","volume":"4","author":"B Hoffmann","year":"2009","unstructured":"Hoffmann B. Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Orphanet J Rare Dis. 2009;4(1):21.","journal-title":"Orphanet J Rare Dis"},{"issue":"23","key":"701_CR9","first-page":"5309","volume":"56","author":"SI Hakomori","year":"1996","unstructured":"Hakomori SI. Tumor malignancy defined by aberrant glycosylation and sphingo (glyco) lipid metabolism. Cancer Res. 1996;56(23):5309\u201318.","journal-title":"Cancer Res"},{"issue":"1","key":"701_CR10","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1097\/00062752-200301000-00004","volume":"10","author":"S Hakomori","year":"2003","unstructured":"Hakomori S. Structure, organization, and function of glycosphingolipids in membrane. Curr Opin Hematol. 2003;10(1):16\u201324.","journal-title":"Curr Opin Hematol"},{"issue":"1","key":"701_CR11","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1471-2407-9-67","volume":"9","author":"D Johansson","year":"2009","unstructured":"Johansson D, Kosovac E, Moharer J, Ljuslinder I, Br\u00e4nnstr\u00f6m T, Johansson A, Behnam-Motlagh P, Johansson D. Expression of verotoxin-1 receptor Gb3 in breast cancer tissue and verotoxin-1 signal transduction to apoptosis. BMC Cancer. 2009;9(1):67.","journal-title":"BMC Cancer"},{"issue":"8","key":"701_CR12","doi-asserted-by":"crossref","first-page":"2498","DOI":"10.1158\/1535-7163.MCT-08-0430","volume":"7","author":"T Falgui\u00e8res","year":"2008","unstructured":"Falgui\u00e8res T, Maak M, von Weyhern C, Sarr M, Sastre X, Poupon M, Robine S, Joahnnes L, Janssen K. Human colorectal tumors and metastases express Gb3 and can be targeted by an intestinal pathogen-based delivery tool. Mol Cancer Ther. 2008;7(8):2498\u2013508.","journal-title":"Mol Cancer Ther"},{"issue":"8","key":"701_CR13","doi-asserted-by":"crossref","first-page":"e6813","DOI":"10.1371\/journal.pone.0006813","volume":"4","author":"U Distler","year":"2009","unstructured":"Distler U, Souady J, H\u00fclsewig M, Drmi\u0107-Hofman I, Haier J, Friedrich AW, Karch H, Senninger N, Dreisewerd K, Berkenkamp S, Schmidt MA, Peter-Katalini\u0107 J, M\u00fcthing J. Shiga toxin receptor Gb3Cer\/CD77: tumor-association and promising therapeutic target in pancreas and colon cancer. PLoS One. 2009;4(8):e6813.","journal-title":"PLoS One"},{"issue":"2","key":"701_CR14","first-page":"167","volume":"89","author":"R Sawada","year":"1998","unstructured":"Sawada R, Hotta H, Chung YS, Sowa M, Tai T, Yano I. Globotriaosyl ceramide and globoside as major glycolipid components of fibroblasts in scirrhous gastric carcinoma tissues. Cancer Sci. 1998;89(2):167\u201376.","journal-title":"Cancer Sci"},{"issue":"10","key":"701_CR15","first-page":"553","volume":"9","author":"S Arab","year":"1997","unstructured":"Arab S, Russel E, Chapman WB, Rosen B, Lingwood CA. Expression of the verotoxin receptor glycolipid, globotriaosylceramide, in ovarian hyperplasias. Oncol Res Featuring Preclin Clin Cancer Ther. 1997;9(10):553\u201363.","journal-title":"Oncol Res Featuring Preclin Clin Cancer Ther"},{"issue":"4","key":"701_CR16","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/BF00191346","volume":"426","author":"J Kang","year":"1995","unstructured":"Kang J, Rajpert-De Meyts E, Skakkeb\u00e6k N, Wiels J. Expression of the glycolipid globotriaosylceramide (Gb3) in testicular carcinoma in situ. Virchows Arch. 1995 May;426(4):369\u201374.","journal-title":"Virchows Arch"},{"issue":"21","key":"701_CR17","first-page":"5314","volume":"53","author":"M Mangeney","year":"1993","unstructured":"Mangeney M, Lingwood CA, Taga S, Caillou B, Tursz T, Wiels J. Apoptosis induced in Burkitt's lymphoma cells via Gb3\/CD77, a glycolipid antigen. Cancer Res. 1993;53(21):5314\u20139.","journal-title":"Cancer Res"},{"issue":"52","key":"701_CR18","doi-asserted-by":"crossref","first-page":"19087","DOI":"10.1073\/pnas.0506474102","volume":"102","author":"O Kovbasnjuk","year":"2005","unstructured":"Kovbasnjuk O, Mourtazina R, Baibakov B, Wang T, Elowsky C, Choti MA, Kane A, Donowitz M. The glycosphingolipid globotriaosylceramide in the metastatic transformation of colon cancer. Pro National Acad Sci U S A. 2005;102(52):19087\u201392.","journal-title":"Pro National Acad Sci U S A"},{"issue":"1","key":"701_CR19","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1093\/eurheartj\/ehp387","volume":"31","author":"N Brakch","year":"2010","unstructured":"Brakch N, Dormond O, Bekri S, Golshayan D, Correvon M, Mazzolai L, Steinmann B, Barbey F. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. Eur Heart J. 2010;31(1):67\u201376.","journal-title":"Eur Heart J"},{"key":"701_CR20","first-page":"81","volume":"3","author":"P Gangoiti","year":"2008","unstructured":"Gangoiti P, Granado MH, Alonso A, Go\u00f1i FM, G\u00f3mez-Mu\u00f1oz A. Implication of ceramide, ceramide 1-phosphate and sphingosine 1-phosphate in tumorigenesis. Transl Oncogenomics. 2008;3:81.","journal-title":"Transl Oncogenomics"},{"issue":"3","key":"701_CR21","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1615\/CritRevOncog.2013006145","volume":"18","author":"PK Mistry","year":"2013","unstructured":"Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE. Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. Crit Rev\u2122 Oncogenesis. 2013;18(3):235\u201346.","journal-title":"Crit Rev\u2122 Oncogenesis"},{"issue":"1","key":"701_CR22","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.bcmd.2005.08.004","volume":"36","author":"M Fost De","year":"2006","unstructured":"De Fost M, Vom Dahl S, Weverling GJ, Brill N, Brett S, H\u00e4ussinger D, Hollak CE. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis. 2006;36(1):53\u20138.","journal-title":"Blood Cells Mol Dis"},{"issue":"4","key":"701_CR23","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1002\/ajh.21362","volume":"84","author":"TH Taddei","year":"2009","unstructured":"Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol. 2009;84(4):208\u201314.","journal-title":"Am J Hematol"},{"key":"701_CR24","first-page":"2011","volume":"7","author":"FY Choy","year":"2011","unstructured":"Choy FY, Campbell TN. Gaucher disease and cancer: concept and controversy. International J Cell Biol. 2011;7:2011.","journal-title":"International J Cell Biol"},{"issue":"12","key":"701_CR25","doi-asserted-by":"crossref","first-page":"4569","DOI":"10.1182\/blood-2004-12-4672","volume":"105","author":"BE Rosenbloom","year":"2005","unstructured":"Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher registry. Blood. 2005;105(12):4569\u201372.","journal-title":"Blood"},{"issue":"2","key":"701_CR26","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1111\/j.1365-2141.2006.06282.x","volume":"135","author":"M Cybulla","year":"2006","unstructured":"Cybulla M, Kleber M, Walter KN, Kroeber SM, Neumann HP, Engelhardt M. Is Fabry disease associated with leukaemia? British J Haematol. 2006;135(2):264\u20135.","journal-title":"British J Haematol"},{"issue":"6","key":"701_CR27","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1159\/000345465","volume":"36","author":"F Pagni","year":"2012","unstructured":"Pagni F, Pieruzzi F, Zannella S, Di Giacomo A, Bovo G, Ferrario F, Torti G, Rivera R, Assi E, Viglione F, Nebuloni M. Possible pathogenetic relationship between Fabry disease and renal cell carcinoma. Am J Nephrol. 2012;36(6):537\u201341.","journal-title":"Am J Nephrol"},{"issue":"1","key":"701_CR28","doi-asserted-by":"crossref","first-page":"184","DOI":"10.3109\/10428194.2012.701294","volume":"54","author":"MC Tisi","year":"2013","unstructured":"Tisi MC, Zampetti A, Feliciani C, Fianchi L, Valentini CG, Hohaus S, Larocca LM, Leone G, Voso MT. Small lymphocytic lymphoma in a patient with Fabry disease. Leuk Lymphoma. 2013;54(1):184\u20135.","journal-title":"Leuk Lymphoma"},{"issue":"11","key":"701_CR29","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.prp.2004.09.003","volume":"200","author":"J Blanco","year":"2005","unstructured":"Blanco J, Herrero J, Arias LF, Garcia-Miralles N, Gamez C, Barrientos A. Renal variant of Anderson-Fabry disease and bilateral renal cell carcinoma. Pathology-Research and Practice. 2005;200(11):857\u201360.","journal-title":"Pathology-Research and Practice"},{"issue":"5","key":"701_CR30","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1007\/s10545-007-0648-1","volume":"30","author":"D Cassiman","year":"2007","unstructured":"Cassiman D, Claes K, Lerut E, Oyen R, Joniau S, Van Damme B, Jaeken J. Bilateral renal cell carcinoma development in long-term Fabry disease. J Inherit Metab Dis. 2007;30(5):830.","journal-title":"J Inherit Metab Dis"},{"key":"701_CR31","unstructured":"Rothman KJ, Greenland S, Lash TL. Modern epidemiology third edition: Lippincott Williams & Wilkins, Philadelphia USA; 2008."},{"issue":"5","key":"701_CR32","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.cell.2011.02.013","volume":"144","author":"D Hanahan","year":"2011","unstructured":"Hanahan D, Weinberg RA. Hallmarks of cancer: the next generation. Cell. 2011;144(5):646\u201374.","journal-title":"Cell"},{"issue":"3","key":"701_CR33","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.ymgme.2011.06.007","volume":"104","author":"PN Francesco De","year":"2011","unstructured":"De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA. Higher apoptotic state in Fabry disease peripheral blood mononuclear cells.: effect of globotriaosylceramide. Mol Genet Metab. 2011;104(3):319\u201324.","journal-title":"Mol Genet Metab"},{"issue":"5","key":"701_CR34","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1016\/S0022-5347(05)65640-6","volume":"166","author":"AJ Pantuck","year":"2001","unstructured":"Pantuck AJ, Zisman A, Belldegrun AS. The changing natural history of renal cell carcinoma. J Urol. 2001;166(5):1611\u201323.","journal-title":"J Urol"},{"issue":"1","key":"701_CR35","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.fertnstert.2006.11.036","volume":"88","author":"A Papaxanthos-Roche","year":"2007","unstructured":"Papaxanthos-Roche A, Demini\u00e8re C, Bauduer F, Hock\u00e9 C, Mayer G, Lacombe D. Azoospermia as a new feature of Fabry disease. Fertil Steril. 2007;88(1):212\u2013e15.","journal-title":"Fertil Steril"},{"issue":"2","key":"701_CR36","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1365-2133.2007.08002.x","volume":"157","author":"CH Orteu","year":"2007","unstructured":"Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB, FOS investigators. Fabry disease and the skin: data from FOS, the Fabry outcome survey. British J Dermatol. 2007;157(2):331\u20137.","journal-title":"British J Dermatol"},{"issue":"2","key":"701_CR37","doi-asserted-by":"crossref","first-page":"S112","DOI":"10.1016\/j.ymgme.2015.12.459","volume":"117","author":"BL Thurberg","year":"2016","unstructured":"Thurberg BL, Germain DP, Perretta F, Benistan K, Politei JM. Meningioma in Fabry disease: three case reports and a review of the literature on malignancies in patients with metabolic lipid disorders. Mol Genet Metab. 2016;117(2):S112.","journal-title":"Mol Genet Metab"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-017-0701-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,3]],"date-time":"2019-10-03T01:16:01Z","timestamp":1570065361000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-017-0701-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,6]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["701"],"URL":"https:\/\/doi.org\/10.1186\/s13023-017-0701-6","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,6]]},"article-number":"150"}}