Genomic testing for RET in the clinic: UK and global perspective.

ABSTRACT:

Graphical abstract

Abstract

RET is a key oncogene in neuroendocrine cancer. Pathogenic germline variants lead to multiple different phenotypes, including multiple endocrine neoplasia type 2, medullary thyroid cancer (MTC), Hirschsprung disease and kidney malformations. Pathogenic somatic variants are also associated with MTC, and RET rearrangements are observed in papillary thyroid cancer, non-small cell lung cancer and pan-cancer syndromes. Testing for both germline and somatic variants is now feasible in everyday clinical practice, and their identification has important clinical consequences, both for affected individuals and their families. This mini-review will discuss current germline and somatic testing strategies in the UK and worldwide, as well as reporting and test

SUBMITTER: Izatt L 

PROVIDER: S-EPMC12020483 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature