The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers

Clinical Genetics
Johannes A RijkenErik F Hensen

Abstract

Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical genetics centers of the Netherlands, we have calculated the penetrance of SDHB 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 mutation carriers were included, carrying 27 different SDHB mutations. The 2 most prevalent SDHB mutations were Dutch founder mutations: a deletion in exon 3 (31% of mutation carriers) and the c.423+1G>A mutation (24% of mutation carriers). One hundred and twelve carriers (57%) displayed no physical, radiological or biochemical evidence of PGL or PHEO. Fifty-four patients had a head and neck PGL (28%), 4 patients had a PHEO (2%), 26 patients an extra-adrenal PGL (13%). The overall penetrance of SDHB 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 es...Continue Reading

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Citations

Jan 3, 2018·Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery·B de VosE F Hensen
Aug 4, 2018·Statistical Methods in Medical Research·Marianne A JonkerErik F Hensen
Sep 12, 2018·Journal of Medical Genetics·Diana E BennRoderick J Clifton-Bligh
Jul 7, 2018·Journal of the Endocrine Society·Pavithran ManiamPaul J Newey
May 19, 2019·Cancers·Alberto CascónMercedes Robledo
Oct 11, 2019·Current Opinion in Oncology·Eleonora P M CorssmitEllen Kapiteijn
Sep 8, 2019·Journal of Medical Genetics·Jean Pierre BayleyHartmut P H Neumann
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Jun 27, 2019·Head & Neck·Kevin J ContreraRobert R Lorenz
Feb 23, 2020·Case Reports in Endocrinology·Alejandro Terrones-LozanoLesly Portocarrero-Ortiz
May 26, 2018·Endocrine-related Cancer·J CronaB Skogseid
Sep 10, 2019·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Samuel Joseph WitheyAudrey Eleanor Therese Jacques
Jan 20, 2019·Cancers·Johannes A RijkenErik F Hensen
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Jun 20, 2021·Endocrine Reviews·Svenja NöltingKarel Pacak
Oct 17, 2021·Ear, Nose, & Throat Journal·Yiming DingXiaohong Chen

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