Genetic Alterations in Thyroid Cancer Patients of Kashmir Valley. Race against Thyroid Cancer

      Аннотация: Thyroid carcinoma is the most prevalent endocrine malignancy and accounts for 2% of all human cancers. We screened exon 15 of BRAF gene; exons 1 and 2 of RAS genes in sixty (60) consecutive thyroid tissue (tumor and adjacent normal) samples. Overall mutations in BRAF was found to be 25% (15 of 60) affecting codon 600 (valine to glutamine) and restricted only to papillary thyroid cancer but devoid of any RAS mutation. We screened 140 blood samples from thyroid cancer patients for HRAS T81C and RET polymorphism in comparison with 170 cancer-free controls. TSHR gene was found to be hyper methylated in 25 % (15 of 60) of the cases with strong association with elevated TSH levels. We conclude that both mutational events as well as over-expression of BRAF gene is highly implicated in pathogenesis of thyroid cancer and the BRAF protein overexpression is independent of the BRAF mutational status. HRAS T81C and RET polymorphisms moderately increases thyroid cancer risk. Our study showed a high implication of TSHR gene methylation and its signi?cant association with BRAF V600E mutation in thyroid tumors, depicting a positive connection between TSHR pathway and MAP Kinase pathway.

Ключевые слова: genes, Thyroid Cancer, MAP Kinase pathway