Definition

The RET gene encodes a receptor tyrosine kinase and plays a role in cancer through two distinct mechanisms: point mutations in the kinase domain lead to medullary thyroid cancer, while gene fusions involving the kinase domain act as oncogenic drivers in various tumor types, most notably lung adenocarcinoma and papillary thyroid cancer; selective RET inhibitors such as selpercatinib have shown efficacy in both mechanisms.

Gene/region examined

RET Exon 10, RET Exon 11, RET Exon 13, RET Exon 14, RET Exon 15, RET Exon 16

Method

DNA analysis

Accepted sample types

Blood (EDTA)

Description

Diagnosis.

Inheritance

Both are possible, germline RET mutations cause the MEN2A/MEN2B hereditary syndromes and ~25% of medullary thyroid cancers, while the remaining medullary thyroid cancers and RET fusions in lung cancer are somatic.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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