Familial medullary thyroid carcinoma [3 genes]
Around 25% of medullary thyroid carcinoma (MTC) cases are hereditary, associated with alterations in the RET gene in the germinal line. Depending on the type of mutation, these variants can cause multiple endocrine neoplasia type 2 or familial medullary thyroid carcinoma (FMTC). FMTC has a dominant autosomal inheritance pattern and represents 15% of hereditary MTC syndromes.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.