Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.

ABSTRACT:

Importance

RET germline pathogenic variants cause multiple endocrine neoplasia type 2 (MEN2), which is associated with medullary thyroid cancer. With increasing incidental identification of these variants in asymptomatic individuals outside family screening, these individuals' risk of medullary thyroid cancer and all-cause mortality without intervention remain unknown in this context.

Objective

To evaluate the risk of medullary thyroid cancer and all-cause mortality in clinically unselected individuals with incidentally identified RET variants and assess whether the risk of medullary thyroid cancer differs from those with clinically ascertained RET variants.

Design, setting, and participants

This prospective cohort study of 383 914 unrelated individuals from the clini

SUBMITTER: West CE 

PROVIDER: S-EPMC12205402 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature