Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma.

ABSTRACT:

Background

Different pathogenic germline mutations in the RET oncogene are identified in MEN 2, a hereditary syndrome characterized by medullary thyroid carcinoma (MTC) and other endocrine tumors. Although genetic predisposition is recognized, not all RET mutation carriers will develop the disease during their lifetime or, likewise, RET mutation carriers belonging to the same family may present clinical heterogeneity. It has been suggested that a single germline mutation might not be sufficient for development of MEN 2-associated tumors and a somatic bi-allelic alteration might be required. Here we investigated the presence of somatic second hit mutation in the RET gene in MTC.

Methods

We integrated Multiplex Ligation-dependent Probe Amplification (MLPA) and whole exome sequ

SUBMITTER: Bim LV 

PROVIDER: S-EPMC6617568 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature