single nucleotide polymorphism rs17849071 gt in the pik3ca gene is inversely associated with follicular thyroid cancer and pik3ca amplificationpik3ca基因的单核苷酸多态性rs17849071 gt是滤泡性甲状腺癌和pik3ca放大成负相关.pdfVIP

Single Nucleotide Polymorphism rG/T in the PIK3CA Gene Is Inversely Associated with Follicular Thyroid Cancer and PIK3CA Amplification 1 1 2 2 2 Jeffrey C. Xing *, Ralph P. Tufano , Avaniyapuram Kannan Murugan , Dingxie Liu , Gary Wand , 2 2 1 Paul W. Ladenson , Mingzhao Xing , Barry Trink 1 Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, 2 Division of Endocrinology and Metabolism, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America Abstract The proto-oncogene PIK3CA has been well studied for its activating mutations and genomic amplifications but not single nucleotide polymorphism (SNP) in thyroid cancer. We investigated SNP r(minor allele G and major allele T) in PIK3CA in thyroid tumors in 503 subjects by PCR and sequencing of a region of intron 9 carrying this SNP. This SNP was found in both normal and thyroid tumor tissues as well as in different generations of a studied family, confirming it to be a germline genetic event in thyroid tumor patients. In comparison with normal subjects, a dramatically lower prevalence of the heterozygous genotype G/T at r was found in patients with follicular thyroid cancer (FTC). Specifically, r/T was found in 15% (18/117) normal subjects vs. 1.3% (1/77) FTC patients, with an odds ratio of 0.07 (95% CI 0.01–0.55; P = 0.001). This represents a 93% risk reduction for FTC with this SNP. In contrast, no difference was seen with benign thyroid neoplasms in which the prevalence of r/T was 13.1% (17/130), with an od