Medullary thyroid carcinoma: genes and variants
Explore variant evidence for Medullary thyroid carcinoma across 8 analyzed proteins (RET, EGFR, EPHA3, ERBB2, ERBB3 and 3 more). Linked ClinVar records include 1 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Medullary thyroid carcinoma
RET: Proto-oncogene tyrosine-protein kinase receptor Ret
Its activation by GDNF-family ligands guides development of the enteric nervous system, kidney, and other tissues. Activating variants cause multiple endocrine neoplasia type 2 and can drive cancer, whereas loss-of-function variants are an important cause of Hirschsprung disease.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in RET have source records linked to Medullary thyroid carcinoma. Association strength is not clinical gene validity.
EGFR: Epidermal growth factor receptor
A cell-surface receptor tyrosine kinase that responds to epidermal-growth-factor family ligands. Ligand binding activates phosphorylation cascades that regulate cell growth, survival, and differentiation, which is why EGFR changes are important in cancer biology.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in EGFR have source records linked to Medullary thyroid carcinoma. Association strength is not clinical gene validity.
EPHA3: Ephrin type-A receptor 3
A receptor tyrosine kinase that binds ephrin proteins on neighboring cells and initiates contact-dependent signaling. It helps guide cell positioning and tissue organization.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in EPHA3 have source records linked to Medullary thyroid carcinoma. Association strength is not clinical gene validity.
ERBB2: Receptor tyrosine-protein kinase erbB-2
ERBB2, also called HER2, is a cell-surface receptor tyrosine kinase that works with other ERBB receptors to transmit growth signals. It helps organize signaling and cytoskeletal responses, and abnormal ERBB2 activity is a major feature of several cancers.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in ERBB2 have source records linked to Medullary thyroid carcinoma. Association strength is not clinical gene validity.
ERBB3: Receptor tyrosine-protein kinase erbB-3
It amplifies neuregulin and ERBB-family signaling primarily by heterodimerizing with catalytically active partners such as HER2 and strongly recruiting PI3K. Persistent signaling can promote tumor growth and resistance to targeted therapy.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in ERBB3 have source records linked to Medullary thyroid carcinoma. Association strength is not clinical gene validity.
ERBB4: Receptor tyrosine-protein kinase erbB-4
It transduces neuregulin and other EGF-family signals important for neural, cardiac, and mammary development. Altered signaling or somatic variants occur in several cancers and have also been studied in neurodevelopmental disease.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in ERBB4 have source records linked to Medullary thyroid carcinoma. Association strength is not clinical gene validity.
MET: Hepatocyte growth factor receptor
Hepatocyte-growth-factor signaling through this pathway promotes cell survival, proliferation, motility, and invasive growth during development and tissue repair. Exon 14 skipping, amplification, activating mutations, or fusions can drive cancer and create actionable therapeutic dependencies.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in MET have source records linked to Medullary thyroid carcinoma. Association strength is not clinical gene validity.
SRC: Proto-oncogene tyrosine-protein kinase Src
It integrates signals from growth-factor receptors, integrins, and other surface proteins to regulate proliferation, adhesion, migration, and survival. Persistent SRC-family signaling promotes invasion and therapy resistance in many cancers and remains an important therapeutic target.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in SRC have source records linked to Medullary thyroid carcinoma. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Medullary thyroid carcinoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RET S891A | 891 | Protein kinase | Pathogenic / likely pathogenic (★★) |
Same protein, different disease
- Multiple endocrine neoplasia also has ClinVar records linked to RET variants; they fall mostly in different places as the Medullary thyroid carcinoma variants (53 pathogenic / likely pathogenic).
- Hirschsprung disease also has ClinVar records linked to RET variants; they fall mostly in different places as the Medullary thyroid carcinoma variants (22 pathogenic / likely pathogenic).
- Familial medullary thyroid carcinoma also has ClinVar records linked to RET variants; they fall mostly in different places as the Medullary thyroid carcinoma variants (13 pathogenic / likely pathogenic).
- MEN2 phenotype: Unclassified also has ClinVar records linked to RET variants; they fall mostly in different places as the Medullary thyroid carcinoma variants (5 pathogenic / likely pathogenic).
- Pheochromocytoma also has ClinVar records linked to RET variants; they fall mostly in different places as the Medullary thyroid carcinoma variants (5 pathogenic / likely pathogenic).
Diseases related to Medullary thyroid carcinoma
- Non-small cell lung carcinoma, also linked to EGFR, ERBB2, ERBB3, ERBB4 and 2 more
- Colorectal cancer, also linked to EGFR, ERBB2 and RET
- Urinary bladder cancer, also linked to EGFR, ERBB2 and ERBB3
- Ovarian cancer, also linked to ERBB2 and RET
- Lung adenocarcinoma, also linked to EGFR and ERBB2
- Lung cancer, also linked to EGFR and ERBB2
- Hepatocellular carcinoma, also linked to MET and RET
- Renal cell carcinoma, also linked to MET and RET
- Visceral neuropathy, familial, 2, autosomal recessive, also linked to ERBB2 and ERBB3
- Hypertrophic cardiomyopathy, also linked to SRC
- Autosomal recessive nonsyndromic hearing loss 4, also linked to MET
- Noonan syndrome, also linked to SRC
Frequently asked questions
Which genes have records linked to Medullary thyroid carcinoma?
This view contains 8 analyzed proteins: RET, EGFR, EPHA3, ERBB2, ERBB3 and 3 more. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 1 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 21 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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