ArticleEuropean journal of human genetics : EJHG2010
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Clinical characteristics and prognosis ofJournal of medical genetics · 2026Pooled it
- Optimal Screening for Hereditary Head and Neck Paraganglioma in Asymptomatic SDHx Variant Carriers in the Netherlands.Journal of neurological surgery. Part B, Skull base · 2025Article
- Identification of a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management.World journal of surgical oncology · 2025Article
- A Narrative Review of Pheochromocytoma in VHL.Journal of kidney cancer and VHL · 2024Article
- TheInternational journal of molecular sciences · 2022Article
- Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management.Biomedicines · 2021Article
- A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas.Neoplasma · 2019Review
- Mathematical Models for Tumor Growth and the Reduction of Overtreatment.Journal of neurological surgery. Part B, Skull base · 2019Article
- Increased Mortality inCancers · 2019Article
- Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers.European journal of human genetics : EJHG · 2018Article
- Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.Oncotarget · 2017Article
- Current approaches and recent developments in the management of head and neck paragangliomas.Endocrine reviews · 2014Review
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.European journal of human genetics : EJHG · 2013Article
- Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.Familial cancer · 2011Review
- Paragangliomas and paraganglioma syndromes.GMS current topics in otorhinolaryngology, head and neck surgery · 2011Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in SDHD predispose to the development of head and neck paragangliomas, and phaeochromocytomas. The risk of developing a tumor depends on the sex of the parent who transmits the mutation: paragangliomas only arise upon paternal transmission. In this study, both the risk of paraganglioma and phaeochromocytoma formation, and the risk of developing associated symptoms were investigated in 243 family members with the SDHD.D92Y founder mutation. By using the Kaplan-Meier method, age-specific penetrance was calculated separately for paraganglioma formation as defined by magnetic resonance imaging (MRI) and for paraganglioma-related signs and symptoms. Evaluating clinical signs and symptoms alone, the penetrance reached a maximum of 57% by the age of 47 years. When MRI detection of occult paragangliomas was included, penetrance was estimated to be 54% by the age of 40 years, 68% by the age of 60 years and 87% by the age of 70 years. Multiple tumors were found in 65% and phaeochromocytomas were diagnosed in 8% of paraganglioma patients. Malignant paraganglioma was diagnosed in one patient (3%). Although the majority of carriers of a paternally inherited SDHD mutation will eventually develop head and neck paragangliomas, we find a lower penetrance than previous estimates from studies based on predominantly index cases. The family-based study described here emphasizes the importance of the identification and inclusion of clinically unaffected mutation carriers in all estimates of penetrance. This finding will allow a more accurate genetic counseling and warrants a 'wait and scan' policy for asymptomatic paragangliomas, combined with biochemical screening for catecholamine excess in SDHD-linked patients.
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