The HABP2 G534E variant is a susceptibility gene for familial nonmedullary thyroid cancer and functions as a dominant-negative tumor-suppressor gene, a new report published in The New England Journal of Medicine has shown.

The American Cancer Society estimates that there will be approximately 62,450 new cases of thyroid cancer in the United States in 2015 and nearly 2,000 deaths from thyroid cancer. Familial nonmedullary thyroid cancers account for 3 to 9% of all thyroid cancer cases, with papillary thyroid cancers accounting for the majority.

For the study, researchers utilized next-generation sequencing to analyze the exome of a family with papillary thyroid cancer but with no known familial cancer syndrome, such as familial adenomatous polyposis, Gardner’s syndrome, Cowden’s disease, and Werner’s syndrome.

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The researchers identified a germline variant in HABP2 that was present in all affected family members and not present in unaffected spouses.

The study showed that the HABP2 G534E variant was associated with increased protein expression in thyroid neoplasms in members with the disease and increased cell growth and migration.

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This gene variant has also been linked with an increased risk for developing venous thrombosis and carotid-artery stenosis in some studies.

The findings suggest that HABP2 is a susceptibility gene for thyroid cancer.


  1. Gara SK, Jia L, Merino M, et al. Germline HABP2 mutation causing familial nonmedullary thyroid cancer. N Engl J Med. 2015; 373:448-455.