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BRAF N581S
GeneBRAF
Variantmissense
Amino Acid ChangeN581S
DNA Change (Coding Nucleotide)1742A>G
Transcript ID (GRCh37/hg19)ENST00000288602
Codon581
Genomic Coordinates (GRCh37/hg19)7:140453193-140453193
COSMIC ID462
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 1
BRAF
Variants
BRAF N581S
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

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.

Last updated: 2017-02-04 21:12:09 UTC
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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.

Last updated: 2017-02-06 20:03:42 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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