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BRAF
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Interpretation 374
Tier 2
BRAF
Variants
BRAF N581S
Primary Sites
Small Intestine
Tumor Types
Adenocarcinoma
Interpretation

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.

Citations
  1. Jun SY, et al. Clinicopathologic and prognostic associations of KRAS and BRAF mutations in small intestinal adenocarcinoma. Mod Pathol 2016;29(4):402-15
  2. Warth A, et al. Genetics and epigenetics of small bowel adenocarcinoma: the interactions of CIN, MSI, and CIMP. Mod Pathol 2011;24(4):564-70
  3. Aparicio T, et al. Small bowel adenocarcinoma phenotyping, a clinicobiological prognostic study. Br J Cancer 2013;109(12):3057-66
  4. Fratev FF, et al. An in silico study of the molecular basis of B-RAF activation and conformational stability. BMC Struct Biol 2009;9():47
  5. Di Nicolantonio F, et al. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol 2008;26(35):5705-12
Last updated: 2017-02-06 20:03:42 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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