Publications by authors named "Sanne A Woortman"
Article Synopsis
- Germline mutations in the SDHB gene increase the risk of developing paragangliomas, and this study investigates the cancer risk (penetrance) in a large family with such mutations.
- After screening 19 family members for SDHB mutations, 14 additional carriers were found, and while three refused clinical checks, 11 agreed to screening.
- The results indicated that only three out of fifteen mutation carriers had paragangliomas, leading to a lower-than-expected penetrance estimate of 26% at 48 years of age in this family.
