A Germline Mutation (A339V) in Thyroid Transcription Factor-1 (TITF-1/NKX2.1) in Patients With Multinodular Goiter and Papillary Thyroid Carcinoma

• Published in: JNCI : Journal of the National Cancer Institute Vol. 101; no. 3; pp. 162 - 175
• Main Authors: Ngan, Elly S. W., Lang, Brian H. H., Liu, Tingting, Shum, Cathy K. Y., So, Man-Ting, Lau, Danny K. C., Leon, Thomas Y. Y., Cherny, Stacey S., Tsai, Sophia Y., Lo, Chung-Yau, Khoo, Ui-Soon, Tam, Paul K. H., Garcia-Barceló, Maria-Mercè
• Format: Journal Article
• Language: English
• Published: Cary, NC Oxford University Press 04.02.2009; Oxford Publishing Limited (England)
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Alanine; Animals; Biological and medical sciences; Carcinoma, Papillary - genetics; Carcinoma, Papillary - metabolism; Carcinoma, Papillary - pathology; Case-Control Studies; Cell Proliferation; Cell Transformation, Neoplastic - genetics; Cell Transformation, Neoplastic - metabolism; Child; Electrophoretic Mobility Shift Assay; Endocrinopathies; Female; Gene Expression Regulation, Neoplastic; Germ-Line Mutation; Goiter, Nodular - genetics; Goiter, Nodular - metabolism; Goiter, Nodular - pathology; Head & neck cancer; Humans; Immunoblotting; Luciferases; Male; Medical sciences; Middle Aged; Mutation; Neoplasm Staging; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Oncology; Pathology; Rats; Reverse Transcriptase Polymerase Chain Reaction; Signal Transduction - genetics; Thyroid diseases; Thyroid Gland - cytology; Thyroid Gland - metabolism; Thyroid Neoplasms - genetics; Thyroid Neoplasms - metabolism; Thyroid Neoplasms - pathology; Thyroid Nuclear Factor 1; Thyroid. Thyroid axis (diseases); Transcription Factors - genetics; Transcription Factors - metabolism; Transcription, Genetic; Tumors; Up-Regulation; Valine; Young Adult; Endocrinopathy; Nodular goiter; Human; Endocrine gland; Thyroid diseases; Thyroid gland; Malignant tumor; Signal transduction; Cancerology; Germ line; Genetics; Mutation; Transcription factor; Papillary thyroid carcinoma; Cancer

Background The genetic factors that determine the risk of papillary thyroid carcinoma (PTC) among patients with multinodular goiter (MNG) remain undefined. Because thyroid transcription factor-1 (TTF-1) is important to thyroid development, we evaluated whether the gene that encodes it, TITF-1/NKX2.1...