{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:15:26Z","timestamp":1791288926263,"version":"4.3.0"},"reference-count":27,"publisher":"Bioscientifica","issue":"3","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:p>\n                    The etiology and pathogenesis of renal cell carcinoma (RCC) are only partially understood. Key findings in hereditary RCC, which may be site specific or a component of a syndrome, have contributed to our current understanding. Important heritable syndromes of RCC are those associated with pheochromocytoma, especially von Hippel\u2013Lindau disease (VHL) associated with germline\n                    <jats:italic>VHL<\/jats:italic>\n                    mutations, and pheochromocytoma and paraganglioma syndrome (PGL) associated with mutations in one of the four genes (\n                    <jats:italic>SDHA<\/jats:italic>\n                    <jats:italic>\u2013<\/jats:italic>\n                    <jats:italic>D<\/jats:italic>\n                    ) encoding succinate dehydrogenase. A subset of individuals with\n                    <jats:italic>SDHB<\/jats:italic>\n                    and\n                    <jats:italic>SDHD<\/jats:italic>\n                    germline DNA mutations and variants develop RCC. RCC has never been described as a component of\n                    <jats:italic>SDHC<\/jats:italic>\n                    -associated PGL3. The European\u2013American Pheochromocytoma and Paraganglioma Registry comprises 35 registrants with germline\n                    <jats:italic>SDHC<\/jats:italic>\n                    mutations. A new registrant had carotid body tumor (CBT) and his mother had CBT and bilateral RCC. Blood DNA, paragangliomas, and RCCs were analyzed for mutations and loss-of-heterozygosity (LOH) in\/flanking\n                    <jats:italic>SDHC<\/jats:italic>\n                    and\n                    <jats:italic>VHL<\/jats:italic>\n                    . The proband with unilateral CBT had a germline\n                    <jats:italic>SDHC<\/jats:italic>\n                    c.3G&gt;A (p.M1I) mutation. His mutation-positive mother had CBT at age 42, clear cell RCC (ccRCC) at age 68, and papillary RCC (pRCC) at age 69. Both paraganglial tumors showed somatic LOH of the\n                    <jats:italic>SDHC<\/jats:italic>\n                    locus. Both ccRCC and pRCC did not have a somatic\n                    <jats:italic>SDHC<\/jats:italic>\n                    mutation but showed LOH for intragenic and flanking markers of the\n                    <jats:italic>SDHC<\/jats:italic>\n                    locus. LOH was also present for the\n                    <jats:italic>VHL<\/jats:italic>\n                    locus. Our findings suggest that RCC is a component of PGL3. Biallelic inactivation of the\n                    <jats:italic>SDHC<\/jats:italic>\n                    gene may represent a new pathway of pathogenesis of syndromic and nonsyndromic RCC, perhaps of both clear cell and papillary histologies.\n                  <\/jats:p>","DOI":"10.1530\/erc-11-0324","type":"journal-article","created":{"date-parts":[[2012,2,20]],"date-time":"2012-02-20T22:22:27Z","timestamp":1329776547000},"page":"283-290","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":51,"title":["Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3"],"prefix":"10.1530","volume":"19","author":[{"given":"Angelica","family":"Malinoc","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maren","family":"Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Wiech","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kurt Werner","family":"Schmid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cordula","family":"Jilg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joern","family":"Straeter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdar","family":"Deger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael M","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Bosse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerd","family":"Rasp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charis","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut P H","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"issue":"24","key":"1_38837634","doi-asserted-by":"publisher","first-page":"2724","DOI":"10.1001\/jama.2010.1877","volume":"304","author":"Bennett","year":"2010","journal-title":"JAMA","ISSN":"https:\/\/id.crossref.org\/issn\/0098-7484","issn-type":"print"},{"issue":"8","key":"2_39959137","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1002\/gcc.20887","volume":"50","author":"Bennett","year":"2011","journal-title":"Genes, chromosomes &amp; 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