title: Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer.
abstract: Familial nonmedullary thyroid cancer accounts for 3 to 9% of all cases of thyroid cancer, but the susceptibility genes are not known. Here, we report a germline variant of HABP2 in seven affected members of a kindred with familial nonmedullary thyroid cancer and in 4.7% of 423 patients with thyroid cancer. This variant was associated with increased HABP2 protein expression in tumor samples from affected family members, as compared with normal adjacent thyroid tissue and samples from sporadic cancers. Functional studies showed that HABP2 has a tumor-suppressive effect, whereas the G534E variant results in loss of function.
authors.affiliation: From the Endocrine Oncology Branch (S.K.G., L.Z., D.P., E.K.), Bioinformatics Core (L.J.) and Laboratory of Pathology (M.J.M.), Center for Cancer Research, and the Office of Science and Technology Resources (M.C.), National Cancer Institute, and the Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases (S.K.A.) - both in Bethesda, MD.
authors.forename: Sudheer Kumar
authors.initials: SK
authors.lastname: Gara
authors.forename: Li
authors.initials: L
authors.lastname: Jia
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Merino
authors.forename: Sunita K
authors.initials: SK
authors.lastname: Agarwal
authors.forename: Lisa
authors.initials: L
authors.lastname: Zhang
authors.forename: Maggie
authors.initials: M
authors.lastname: Cam
authors.forename: Dhaval
authors.initials: D
authors.lastname: Patel
authors.forename: Electron
authors.initials: E
authors.lastname: Kebebew
mesh_terms: D000236:Adenoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000293:Adolescent; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D012697:Serine Endopeptidases / Q000235:genetics* / Q000378:metabolism; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D055815:Young Adult
chemical_list: C433550:HABP2 protein, human; D012697:Serine Endopeptidases