Clinicopathological Features of Rare BRAF Mutations in Korean Thyroid Cancer Patients

• DOI: 10.3346/jkms.2014.29.8.1054
• Publication Date: 2014-08-07T05:43:14Z
• Authors: Uiju Cho; Woo Jin Oh; Ja Seong Bae; Sohee Lee; Young Sub Lee; Gyeong Sin Park; Youn Soo Lee; Chan Kwon Jung
• Keywords: Genetic Markers; Male; Proto-Oncogene Proteins B-raf; Base Sequence; Incidence; Molecular Sequence Data; Middle Aged; Polymorphism, Single Nucleotide; 3. Good health; 03 medical and health sciences; Rare Diseases; 0302 clinical medicine; Risk Factors; Mutation; Republic of Korea; Biomarkers, Tumor; Prevalence; Humans; Original Article; Female; Genetic Predisposition to Disease; Thyroid Neoplasms

Clinicopathological Features of Rare BRAF Mutations in Korean Thyroid Cancer PatientsThe most common mutation thyroid cancer is c.1799T > A (p.Val600Glu), and other mutations are rarely reported.We investigated the clinicopathological features with rare mutations.A total 2,763 patients underwent molecular testing by direct DNA sequencing for exon 15.Among them, 2,110 (76.4%) had mutations.The was found 2,093 (76.9%) 2,722 papillary carcinomas one 7 medullary carcinomas.Sixteen cases (0.76%) harbored types.Five single-nucleotide substitutions, 5 small in-frame deletion or insertion, a twonucleotide substitution.Of these mutations, 2 were novel (c.1797_1798insGAGACTACA, c.[1799T A; 1801_1812del]).The c.1801A C identified 4 follicular variant carcinoma.None showed extrathyroidal extension lymph node metastasis.The prevalence 0.76% all BRAF-positive cancers, associated less aggressive pathologic features.Although detected exclusively carcinoma, they also carcinoma carcinoma.