Searchable abstracts of presentations at key conferences in endocrinology

ea0094op7.3 | RET and Endocrine Cancer | SFEBES2023

Penetrance of MEN2A-causing RET mutations in clinically unselected population is very low – important implications for clinical practice

West Courtney , Ruth Katherine , Owens Martina , Vaidya Bijay , Patel Kashyap

Background: MEN2A-causing RET variants are considered highly penetrant, and early prophylactic thyroidectomy is recommended to prevent the development of Medullary thyroid cancer (MTC). However, existing risk estimates may be exaggerated due to their reliance on clinically selected patients, leading to unnecessary surgeries. To address this, we conducted a comprehensive study of 450,000 clinically unselected individuals to evaluate the risk of MTC wit...