Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer

Overview

Journal N Engl J Med

Specialty General Medicine

Date 2015 Jul 30

PMID 26222560

Citations 66

Authors

Sudheer Kumar Gara

Li Jia

Maria J Merino

Sunita K Agarwal

Lisa Zhang

Maggie Cam

Dhaval Patel

Electron Kebebew

Affiliations

Soon will be listed here.

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.

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