The familial forms of non-medullary thyroid carcinoma (FNMTC) represent 5% of thyroid neoplasms. To date, three FNMTC susceptibility genes have been identified (NKX2-1, DICER1 and SRGAP1). This study represents the first evidence of involvement of a germline FOXE1 rare variant in FNMTC etiology. This gene, which encodes the FOXE1 transcription factor involved in the morphogenesis and differentiation of the thyroid, may represent a novel susceptibility gene for this familial thyroid disease.
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