Monogenic conditions

RETMultiple endocrine neoplasia type 2

Activating germline RET variants are linked to medullary thyroid cancer and MEN2; risk depends on the exact codon.

RELATIONSHIP VALIDITYHigh: established causality and genotype–phenotype relationship
ACTIONABILITYVery high for a confirmed pathogenic variant
SOURCE CHECKLinks and claim boundaries are editorially checked; external expert review is stated only with named disclosure
01

What a test can show

Clinical RET sequencing with exact variant naming and confirmation; somatic RET fusions belong to a different oncology category.

02

Practical meaning

The exact variant affects timing and scope of preventive and family care.

03

Where knowledge ends

A germline activating RET substitution and an acquired tumour RET fusion must not be conflated.

SOURCES AND VERSION

Verifiable, not ‘trust us’.

Updated: 14 August 2026. Any clinical interpretation requires the exact variant, testing method, family information and medical context.