HABP2 G534E variation in familial non-medullary thyroid cancer: an Italian series

Introduction: Thyroid cancer may have a familial predisposition and may occur in the context of hereditary syndromes or as isolated tumor. Recently, the G534E variant in the HABP2 gene has been suggested as causative mutation for familial thyroid cancer, but other studies gave contradictory results. Methods: We have analyzed the G534E variant in an Italian series of 63 familial thyroid cancer patients and 41 unaffected family members with end-point PCR, DHPLC and direct sequencing. Results: All samples analyzed displayed a pattern typical of the homozygous wild type revealing the absence of the G534E variant. Conclusion: In this study, HABP2 G534E variant is not correlated with the familial form of PTC.