Rare germline variants in DNA repair-related genes are accountable for papillary thyroid cancer susceptibility.

ABSTRACT:

Background

Understanding the molecular mechanisms underlying papillary thyroid cancer (PTC) proved to be vital not only for diagnostic purposes but also for tailored treatments. Despite the strong evidence of heritability, only a small subset of alterations has been implicated in PTC pathogenesis. To this reason, we used targeted next-generation sequencing (NGS) to identify candidate variants implicated in PTC pathogenesis, progression, and invasiveness.

Methods

A total of 42 primary PTC tissues were investigated using a targeted next-generation sequencing (NGS) panel enlisting 47 genes involved in DNA repair and tumor progression.

Results

We identified 57 point mutations in 78.5% of samples (n = 32). Thirty-two somatic mutations were identified exclusively in known t

SUBMITTER: Mio C 

PROVIDER: S-EPMC8325654 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature