The T1799A BRAF mutation is not a germline mutation in familial nonmedullary thyroid cancer

• Published in: Clinical endocrinology (Oxford) Vol. 63; no. 3; pp. 263 - 266
• Main Author: Xing, Mingzhao
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.09.2005; Blackwell; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adult; Aged; Biological and medical sciences; Carcinoma, Papillary - genetics; Child; DNA Mutational Analysis; Endocrinopathies; Female; Fundamental and applied biological sciences. Psychology; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Male; Malignant tumors; Medical sciences; Middle Aged; Mutation; Pedigree; Proto-Oncogene Proteins B-raf - genetics; Thyroid Neoplasms - genetics; Thyroid. Thyroid axis (diseases); Vertebrates: endocrinology; Endocrinopathy; BRAF Gene; Thyroid cancer; C-Onc gene; Germ line; Thyroid diseases; Familial cancer; Genetics; Malignant tumor; Mutation; Endocrinology; Protooncogene
• ISSN: 0300-0664; 1365-2265
• DOI: 10.1111/j.1365-2265.2005.02332.x

Summary Objective  Familial nonmedullary thyroid cancer (FNMTC) is relatively common but its predisposing genetic alteration is unclear. As the somatic T1799A BRAF mutation is highly prevalent in papillary thyroid cancer, the aim was to test whether this mutation was a susceptibility mutation for FNMTC. Subjects and methods  The T1799A BRAF mutation as a possible germline mutation was examined in 40 subjects from 23 families with a history of FNMTC. Direct DNA sequencing was performed on white blood cell DNA samples to analyse the mutation status. Results  No T1799A BRAF mutation was found in this group of subjects as germline mutation. Conclusion  The T1799A BRAF mutation is not a germline mutation or susceptibility genetic event for FNMTC.