作者
Sudheer Kumar Gara, Li Jia, Maria J Merino, Sunita K Agarwal, Lisa Zhang, Maggie Cam, Dhaval Patel, Electron Kebebew
发表日期
2015/7/30
期刊
New England Journal of Medicine
卷号
373
期号
5
页码范围
448-455
出版商
Massachusetts Medical Society
简介
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.
引用总数
2015201620172018201920202021202220232024333189151920896
学术搜索中的文章
SK Gara, L Jia, MJ Merino, SK Agarwal, L Zhang… - New England Journal of Medicine, 2015