Let genes make sense

[研究發表] 息肉與台灣大腸癌的BRAF基因研究 發表於2018台灣消化醫學年會

Precision Medicine shows promise for maximizing efficacy and minimizing toxicity to prevent cancer progression. Colorectal cancer (CRC) is still one of the deadliest cancer-related diseases, and usually causes by the mutations in the epithelial cells of the gastrointestinal surfaces resulting in hyperactivity of the signaling pathways and finally transforms these cells into the adenomatous polyps. Mutation in the BRAF gene, which is valine-to-glutamate change at the residue 600 (V600E), are examples of such oncogenic events and are found in about 10% of CRC patients. Accumulation of the inherited or acquired mutations transits the adenomatous polyps to malignancy. The mutation is associated with shorter progression-free and overall survival. Recently, the serrated pathway to colorectal cancer, in which serrated polyps develop into cancers, has received much attention as an alternative pathway in colorectal carcinogenesis. Hyperplastic polyps (HP) share some histologic and molecular characteristics with sessile serrated adenomas/ polyps (SSA/P) that are a putative precursor of colon cancer. However, the developmental mechanism of SSA/P remains unknown. The aim of this study was to evaluate the molecular features of HPs and SSA in Taiwan. We used FemtoPath BRAF Exon 15 Primer Set (HongJing Biotech.) to detect BRAF mutation for 84 specimens and resulting with highly frequency mutation rate in polys. We are revealed the genetic correlation between HPs/SSA and CRC tumors. A feature of polyps is the identification of BRAF mutations that provide a genetic testing as a biomarker in Taiwan.