{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T11:01:12Z","timestamp":1788519672043,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,9,6]],"date-time":"2017-09-06T00:00:00Z","timestamp":1504656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,1]]},"abstract":"Germline mutations in succinate dehydrogenase B (SDHB<\/jats:styled-content><\/jats:italic>) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL<\/jats:styled-content> or pheochromocytoma (PHEO<\/jats:styled-content>) in SDHB<\/jats:styled-content><\/jats:italic> mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB<\/jats:styled-content><\/jats:italic> mutation carriers identified by the clinical genetics centers of the Netherlands, we have calculated the penetrance of SDHB<\/jats:styled-content><\/jats:italic> associated tumors using a novel maximum likelihood estimator. This estimator addresses ascertainment bias and missing data on pedigree size and structure. A total of 195 SDHB<\/jats:styled-content><\/jats:italic> mutation carriers were included, carrying 27 different SDHB<\/jats:styled-content><\/jats:italic> mutations. The 2 most prevalent SDHB<\/jats:styled-content><\/jats:italic> mutations were Dutch founder mutations: a deletion in exon 3 (31% of mutation carriers) and the c.423+1G<\/jats:styled-content>>A mutation (24% of mutation carriers). One hundred and twelve carriers (57%) displayed no physical, radiological or biochemical evidence of PGL<\/jats:styled-content> or PHEO<\/jats:styled-content>. Fifty\u2010four patients had a head and neck PGL<\/jats:styled-content> (28%), 4 patients had a PHEO<\/jats:styled-content> (2%), 26 patients an extra\u2010adrenal PGL<\/jats:styled-content> (13%). The overall penetrance of SDHB<\/jats:styled-content><\/jats:italic> mutations is estimated to be 21% at age 50 and 42% at age 70 when adequately corrected for ascertainment. These estimates are lower than previously reported penetrance estimates of SDHB<\/jats:styled-content><\/jats:italic>\u2010linked cohorts. Similar disease risks are found for different SDHB<\/jats:styled-content><\/jats:italic> germline mutations as well as for male and female SDHB<\/jats:styled-content><\/jats:italic> mutation carriers.<\/jats:p>","DOI":"10.1111\/cge.13055","type":"journal-article","created":{"date-parts":[[2017,5,15]],"date-time":"2017-05-15T03:56:41Z","timestamp":1494820601000},"page":"60-66","source":"Crossref","is-referenced-by-count":61,"title":["The penetrance of paraganglioma and pheochromocytoma in SDHB<\/scp><\/i> germline mutation carriers"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4579-3249","authenticated-orcid":false,"given":"J.A.","family":"Rijken","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology \u2013 Head and Neck Surgery VU University Medical Center Amsterdam the 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