title: Clinicopathological features of rare BRAF mutations in Korean thyroid cancer patients.
abstract: The most common BRAF mutation in thyroid cancer is c.1799T>A (p.Val600Glu), and other BRAF mutations are rarely reported. We investigated the clinicopathological features of thyroid cancer with rare BRAF mutations. A total of 2,763 patients with thyroid cancer underwent molecular testing by direct DNA sequencing for mutations in BRAF exon 15. Among them, 2,110 (76.4%) had BRAF mutations. The c.1799T>A mutation was found in 2,093 (76.9%) of 2,722 papillary carcinomas and in one of 7 medullary carcinomas. Sixteen cases (0.76%) harbored rare mutation types. Five cases had single-nucleotide substitutions, 5 cases had small in-frame deletion or insertion, and one harbored a two-nucleotide substitution. Of these mutations, 2 were novel (c.1797_1798insGAGACTACA, c.[1799T>A; 1801_1812del]). The c.1801A>G mutation was identified in 4 follicular variant papillary carcinomas and one follicular carcinoma. None of the patients with the c.1801A>G mutation showed extrathyroidal extension or lymph node metastasis. The prevalence of rare BRAF mutations was 0.76% of all BRAF-positive thyroid cancers, and the rare mutations were associated with less aggressive pathologic features. Although BRAF mutations are detected exclusively in papillary carcinoma, they are also found in medullary carcinoma and follicular carcinoma. [Corrected]
authors.affiliation: Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Uiju
authors.identifier: 0000-0002-6229-8418
authors.initials: U
authors.lastname: Cho
authors.affiliation: Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Woo Jin
authors.identifier: 0000-0001-6130-9210
authors.initials: WJ
authors.lastname: Oh
authors.affiliation: Department of Surgery, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Ja Seong
authors.identifier: 0000-0003-3904-6519
authors.initials: JS
authors.lastname: Bae
authors.affiliation: Department of Surgery, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Sohee
authors.identifier: 0000-0003-1559-8853
authors.initials: S
authors.lastname: Lee
authors.affiliation: Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Young Sub
authors.identifier: 0000-0003-0841-1122
authors.initials: YS
authors.lastname: Lee
authors.affiliation: Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Gyeong Sin
authors.identifier: 0000-0002-9727-5566
authors.initials: GS
authors.lastname: Park
authors.affiliation: Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Youn Soo
authors.identifier: 0000-0002-1653-6315
authors.initials: YS
authors.lastname: Lee
authors.affiliation: Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Chan Kwon
authors.identifier: 0000-0001-6843-3708
authors.initials: CK
authors.lastname: Jung
mesh_terms: D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D035583:Rare Diseases / Q000453:epidemiology / Q000235:genetics; D056910:Republic of Korea / Q000453:epidemiology; D012307:Risk Factors; D013964:Thyroid Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor; D005819:Genetic Markers; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF; Biomarkers; Mutation; Pathology; Thyroid Neoplasms