Genome Center cancer lab and international collaborators clarify the importance of a rare genetic variant in thyroid cancer

First author Dr. Ruta Sahasrabudhe and last author Assistant Professor Luis Carvajal-Carmona, along with colleagues from Colombia and England, have published a study showing no connection between a mutant version of a gene involved in blood clotting and familial non-medullary thyroid cancer (NMTC), in refutation of an earlier study published in the New England Journal of Medicine based on a single NMTC family. In that study, published in July 2015, a previously unknown variant of a gene called HABP2 was found in 7 cases from the same NMTC family and after several functional experiments, the authors concluded that this HABP2 variant, called G534E,  was causal of familial thyroid cancer.  The identification of a new familial gene was potentially important as cancer patients and their asymptomatic relatives could work with genetic counselors to assess their risk and the benefits of genetic testing. In light of this potentially important finding, the UC Davis Genome Center team decided to validate the effect of the HABP2 variant in a cohort from the British Isles consisting of 2105 patients with thyroid cancer and 5172 controls. Sahasrabudhe et al showed that individuals carrying this variant, which differs by a single amino acid, are not at increased risk of developing this cancer, contradicting the previous study. Although the authors concluded that further replication studies are needed in order to assess the causal role of HABP2 on thyroid cancer risk, their study provides strong evidence to suggest that the G534E variant is harmless. The open access article was published in the Journal of Clinical Endocrinology and Metabolism: