Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 26222560.
- Also identified by DOI 10.1056/NEJMoa1502449 and PMC identifier 4562406.
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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.
Medical subject headings
- Adenoma
- Germ-Line Mutation
- Neoplastic Syndromes, Hereditary
- Serine Endopeptidases
- Thyroid Neoplasms