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 paragangliomas. Presymptomatic DNA testing was performed in 19 family members.

Results

DNA analysis detected 14 further SDHB mutation carriers. Three mutation carriers (median age 78 years) declined cl

SUBMITTER: Hes FJ 

PROVIDER: S-EPMC2891715 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature