Article
Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of "thyroid-checked" controls.
European journal of medical genetics - 1 Mar 2017
Kern Benjamin, Coppin Lucie, Romanet Pauline, Crépin Michel, Szuster Isabelle, Renaud Florence, Leteurtre Emmanuelle, Frénois Frédéric, Wemeau Jean-Louis, Carnaille Bruno, Cardot-Bauters Catherine, Do Cao Christine, Pigny Pascal
Abstract excerpt
A heterozygous germline variant in the HABP2 gene c.1601G > A (p.Gly534Glu), which negatively impacts its tumor suppressive activity in vitro, has been described in 4-14% of kindreds of European-American ancestry with familial papillary thyroid carcinoma (fPTC). But it is also found in ≈4% of Europeans and European/Americans from public databases that, however, did not provide information on the thyroid function...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.