{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T02:26:52Z","timestamp":1790908012384,"version":"4.1.0"},"reference-count":60,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:p>Our understanding of the molecular mechanisms underlying the tumorigenesis of renal cell carcinoma (RCC) has partially come from studies of RCC related familial cancer syndromes such as von Hippel-Lindau (VHL) disease and hereditary papillary RCC (HPRC). These studies have led to the identification of RCC related genes, which, besides allowing accurate diagnosis of these diseases, have been found mutated or abnormally expressed in the sporadic counterparts of these familial renal tumours. To date, a number of renal tumour related syndromes have been described. We review recent advances in this field and discuss a genetic approach to managing familial cases of renal tumours occasionally encountered by cancer geneticists and urologists.<\/jats:p>","DOI":"10.1136\/jmg.39.1.1","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:29:57Z","timestamp":1027751397000},"page":"1-5","source":"Crossref","is-referenced-by-count":31,"title":["Familial adult renal neoplasia"],"prefix":"10.1136","volume":"39","author":[{"given":"M","family":"Takahashi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Kahnoski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Gross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Nicol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B T","family":"Teh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2002,1,1]]},"reference":[{"key":"2025101710440064000_39.1.1.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0142(19970901)80:5<987::AID-CNCR24>3.0.CO;2-R"},{"key":"2025101710440064000_39.1.1.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)61751-5"},{"key":"2025101710440064000_39.1.1.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.348"},{"key":"2025101710440064000_39.1.1.4","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199711000-00001"},{"key":"2025101710440064000_39.1.1.5","doi-asserted-by":"publisher","DOI":"10.1126\/science.8493574"},{"key":"2025101710440064000_39.1.1.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng0594-85"},{"key":"2025101710440064000_39.1.1.7","first-page":"1942","volume":"60","year":"2000","journal-title":"Cancer Res"},{"key":"2025101710440064000_39.1.1.8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.21.9700"},{"key":"2025101710440064000_39.1.1.9","doi-asserted-by":"publisher","DOI":"10.1038\/20459"},{"key":"2025101710440064000_39.1.1.10","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.190332597"},{"key":"2025101710440064000_39.1.1.11","doi-asserted-by":"publisher","DOI":"10.1038\/35017054"},{"key":"2025101710440064000_39.1.1.12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.20.10595"},{"key":"2025101710440064000_39.1.1.13","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.7.763"},{"key":"2025101710440064000_39.1.1.14","doi-asserted-by":"publisher","DOI":"10.1086\/302037"},{"key":"2025101710440064000_39.1.1.15","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1056\/NEJM197909133011107","volume":"301","year":"1979","journal-title":"N Engl J Med"},{"key":"2025101710440064000_39.1.1.16","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81034-X"},{"key":"2025101710440064000_39.1.1.17","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.16.9572"},{"key":"2025101710440064000_39.1.1.18","first-page":"191","volume":"1","year":"1995","journal-title":"Cancer J Sci Am"},{"key":"2025101710440064000_39.1.1.19","doi-asserted-by":"publisher","DOI":"10.1086\/301888"},{"key":"2025101710440064000_39.1.1.20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.165"},{"key":"2025101710440064000_39.1.1.21","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.13.1159"},{"key":"2025101710440064000_39.1.1.22","unstructured":"Teh BT, Nord B, Kytola S, Giraud S, Arver B, Limacher JM, Gross D, Nicol D. Familial non-VHL, non-papillary renal cell carcinoma. 3rd International Symposium on von Hippel-Lindau Disease, Paris, France, 1998."},{"key":"2025101710440064000_39.1.1.23","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-199706000-00001"},{"key":"2025101710440064000_39.1.1.24","first-page":"537","volume":"10","year":"1997","journal-title":"Mod Pathol"},{"key":"2025101710440064000_39.1.1.25","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(20000801)89:3<604::AID-CNCR16>3.0.CO;2-Q"},{"key":"2025101710440064000_39.1.1.26","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(01)67601-8"},{"key":"2025101710440064000_39.1.1.27","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-68"},{"key":"2025101710440064000_39.1.1.28","first-page":"1719","volume":"58","year":"1998","journal-title":"Cancer Res"},{"key":"2025101710440064000_39.1.1.29","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.21.11445"},{"key":"2025101710440064000_39.1.1.30","doi-asserted-by":"publisher","DOI":"10.1038\/1727"},{"key":"2025101710440064000_39.1.1.31","first-page":"944","volume":"56","year":"1995","journal-title":"Am J Hum Genet"},{"key":"2025101710440064000_39.1.1.32","doi-asserted-by":"publisher","DOI":"10.1210\/jc.81.12.4204"},{"key":"2025101710440064000_39.1.1.33","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.4.1449"},{"key":"2025101710440064000_39.1.1.34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1749-6632.1991.tb37742.x","volume":"615","year":"1991","journal-title":"Ann NY Acad Sci"},{"key":"2025101710440064000_39.1.1.35","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.11.848"},{"key":"2025101710440064000_39.1.1.36","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.6.480"},{"key":"2025101710440064000_39.1.1.37","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)90416-8"},{"key":"2025101710440064000_39.1.1.38","doi-asserted-by":"publisher","DOI":"10.1038\/ng0992-37"},{"key":"2025101710440064000_39.1.1.39","doi-asserted-by":"publisher","DOI":"10.1038\/35010550"},{"key":"2025101710440064000_39.1.1.40","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"2025101710440064000_39.1.1.41","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.46.29301"},{"key":"2025101710440064000_39.1.1.42","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1977.01640120042005"},{"key":"2025101710440064000_39.1.1.43","first-page":"429","volume":"28","year":"1981","journal-title":"Cutis"},{"key":"2025101710440064000_39.1.1.44","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/S0190-9622(87)70235-7","volume":"17","year":"1987","journal-title":"J Am Acad Dermatol"},{"key":"2025101710440064000_39.1.1.45","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1985.01660070078019"},{"key":"2025101710440064000_39.1.1.46","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1159\/000249448","volume":"171","year":"1985","journal-title":"Dermatologica"},{"key":"2025101710440064000_39.1.1.47","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1016\/S0190-9622(08)82049-X","volume":"29","year":"1993","journal-title":"J Am Acad Dermatol"},{"key":"2025101710440064000_39.1.1.48","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.135.10.1195"},{"key":"2025101710440064000_39.1.1.49","unstructured":"Khoo SK, Bradley M, Wong FK, Hedblad MA, Nordenskj\u00f6ld M, Teh BT. Birt-Hogg-Dub\u00e9 syndrome: mapping of a novel heredity neoplasia gene to chromosome 17p12-q11.2. Oncogene (in press)."},{"key":"2025101710440064000_39.1.1.50","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1989.tb00890.x"},{"key":"2025101710440064000_39.1.1.51","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1997.03890450113016"},{"key":"2025101710440064000_39.1.1.52","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1111\/j.1365-4362.1996.tb03642.x","volume":"35","year":"1996","journal-title":"Int J Dermatol"},{"key":"2025101710440064000_39.1.1.53","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.051633798"},{"key":"2025101710440064000_39.1.1.54","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.5.1758"},{"key":"2025101710440064000_39.1.1.55","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0065-230X(08)60316-4","volume":"62","year":"1993","journal-title":"Adv Cancer Res"},{"key":"2025101710440064000_39.1.1.56","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/S0022-5347(17)36565-5","volume":"148","year":"1992","journal-title":"J Urol"},{"key":"2025101710440064000_39.1.1.57","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(01)62888-X"},{"key":"2025101710440064000_39.1.1.58","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199803)21:3<260::AID-GCC12>3.0.CO;2-T"},{"key":"2025101710440064000_39.1.1.59","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1136\/jmg.36.11.801","volume":"36","year":"1999","journal-title":"J Med Genet"},{"key":"2025101710440064000_39.1.1.60","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90186-I"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.39.1.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:44:11Z","timestamp":1760723051000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.39.1.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1]]},"references-count":60,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2002,1,1]]},"published-print":{"date-parts":[[2002,1]]}},"alternative-id":["10.1136\/jmg.39.1.1"],"URL":"https:\/\/doi.org\/10.1136\/jmg.39.1.1","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,1]]}}}