RETmutaattoreille

RETmutaattoreille is a Finnish term that translates to "RET mutations" in English. RET is a proto-oncogene that encodes a receptor tyrosine kinase. Mutations in the RET gene can lead to its abnormal activation, which is implicated in the development of various cancers.

These mutations can be either germline, meaning they are inherited, or somatic, acquired during a person's lifetime. Germline RET mutations are particularly associated with multiple endocrine neoplasia type 2 (MEN2), a group of hereditary disorders that increase the risk of developing medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia. MEN2 is classified into subtypes MEN2A and MEN2B, each linked to specific RET mutations.

Somatic RET mutations are found in a range of sporadic cancers, including non-small cell lung cancer (NSCLC), papillary thyroid carcinoma, and colorectal cancer. In NSCLC, RET fusions, where the RET gene fuses with another gene, are a notable driver mutation that can be targeted by specific therapies. The identification of RET mutations has significantly advanced personalized medicine, allowing for the development of targeted therapies that inhibit the activity of the mutated RET protein. These targeted therapies have shown promising results in patients with RET-altered cancers.