Pathology

 germline mutations of BRAF in cardiofaciocutaneous syndrome (CFC syndrome)

 somatic activating point mutations of the BRAF oncogene (predominant specific point mutation BRAF-V599E)

• in papillary carcinomas of the thyroid
• in primary invasive melanomas (tandem BRAF mutations) (46%) (#15140228#)
• colorectal adenocarcinoma
• pulmonary adenocarcinoma
   non-Hodgkin lymphomas (2.4%)

 BRAF/AKAP9 fusion gene (#15630448#)

• thyroid carcinomas (MAPK pathway activation)

See also

 MAPK signaling pathways
 RAS/RAF/MAPK signaling pathway

References

 Dibb NJ, Dilworth SM, Mol CD. Switching on kinases: oncogenic activation of BRAF and the PDGFR family. Nat Rev Cancer. 2004 Sep;4(9):718-27. PMID: #15343278#

 Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet. 2006 Feb 12; PMID: #16474404#