somatic braf v600e mutation in familial colorectal cancer type x: a new study in central iran

Background: braf-v600e is a known prognostic/predictive marker in colorectal cancer (crc), detected in 4 - 12% of all patients with this cancer. familial-crc-type-x (fccx) is a subtype of mismatch-repair (mmr) proficient crc with an unknown genetic cause. objectives: given the lack of enough information on the molecular aspects of fccx among iranians, this study was conducted to evaluate the braf-v600e hot-spot mutation in tumor dna in fccx probands in central iran. methods: this was a cross-sectional study in which 48 fccx probands were recruited according to amsterdam-ii criteria, andmmr proficiency was confirmed by msi testing and ihc-mmrs. tumors’ dna samples were assessed for the braf-v600e mutation by sanger-sequencing. results: none of the 48 assessed fccx probands presented the braf-v600e mutation. conclusions: it can be suggested that fccx tumors have a good prognosis compared to other crcs.