Identification of susceptibility gene mutations associated with the pathogenesis of familial nonmedullary thyroid cancer.

ABSTRACT:

Background

Familial nonmedullary thyroid cancer (FNMTC) accounts for approximately 3%-9% of all thyroid cancers; however, the mechanisms underlying FNMTC remain unclear. Environmental and genetic (especially genetic mutation) factors may play important roles in FNMTC etiology, development, and pathogenesis.

Methods

Three affected members, including two first-degree relatives, and three healthy members of a family with FNMTC were studied. We performed whole-exome and targeted gene sequencing to identify gene mutations that may be associated with FNMTC pathogenesis. The results were analyzed using Exome Aggregation Consortium data and the Genome Aggregation Database and further validated using Sanger sequencing.

Results

Of 28 pivotal genes with rare nonsynonymous mutati

SUBMITTER: Zhu J 

PROVIDER: S-EPMC6900395 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature