|Amino Acid Change||N581S|
|DNA Change (Coding Nucleotide)||1742A>G|
|Transcript ID (GRCh37/hg19)||ENST00000288602|
|Genomic Coordinates (GRCh37/hg19)||7:140453193-140453193|
|Tumor Type||Primary Site|
B-RAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. BRAF mutations are present in approximately 50% to 60% of cutaneous melanomas and are also present at lower frequencies in other melanoma subtypes. A point mutation, N581S, is located in the kinase domain of BRAF. It has been reported that N581S is associated with intermediate kinase activity. Correlation with other clinical and lab findings is necessary.
BRAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. BRAF mutations are infrequent in small intestinal adenocarcinoma, ranging from 1% to13% of reported cases. BRAF N581S mutation is located in the kinase domain and has been associated with intermediate kinase activity. Mutations in the kinase region of BRAF have been associated with resistance to anti-EGFR therapy in colorectal cancers. The prognostic and predictive significance of this specific BRAF mutation in small intestinal adenocarcinoma needs further elucidation. Results should be interpreted in conjunction with other laboratory and clinical findings.