Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

Abstract Background Germline mutations of the succinate dehydrogenase subunit B gene ( SDHB ) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate the phenotype and penetrance of a germline SDHB mutation in a large and clinically well-characterized paraganglioma family. Methods Following identification of the mutation in a 31 year old index-patient, extensive clinical screening was performed in mutation carriers to evaluate the presence of head and neck, thoracic and abdominal paragangliom... Mehr ...