Examination of the role of genetics in thyroid neoplasm

Introduction: Thyroid neoplasm, like other cancers, associates with the lack of control over the growth and development of cells, and death is the outcome of the disease. Thyroid neoplasm is the fifth most common cancer among American women and also the most common endocrine cancer in Iran. Due to the increasing rate of thyroid neoplasm development in recent years, investigating the role of genetics in this neoplasm has been considered.Description: Sequencing analysis of genomic-DNA combined with family history exploring and twins’ studies, altogether implemented the importance of genetics in the incidence of the neoplasm. Mutations of MAPK signaling pathway has been observed in the most of thyroid neoplasm. Also over the past decades, genome-wide association studies (GWAS) have identified and introduced various genes associated with different phenotypes of the thyroid gland neoplasm.Discussion and conclusion: The most frequent mutation of non-medullary thyroid neoplasm is transversion of thymine 1799 to alanine resulting to a mutant kinase named BRAFV600E especially in the case of papillary thyroid neoplasm (PTC). Mutations in RAS oncogene family members are also frequently found in follicular thyroid cancer (FTC). Chromosomal translocations are occurred in thyroid neoplasm such as PPARɣ (30% of FTC) and RET (7% of PTC) translocation. On the other hand, RET proto-oncogene mutation has been observed in the most medullary thyroid neoplasm (MTC), but few RAS mutations occur in this type of thyroid cancer. RET mutations could be inherited somatically or via germ line, but they can emerge as sporadic with autosomal dominant inheritance. Therefore, evaluation of RET hereditary genetic mutation is recommended for all MTC patients regardless of their family history or age.