• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Lys (c.1798_1799delGTinsAA); ClinVar=VCV000375941; Zygosity=Heterozygous (PubMed=20149136; PubMed=26214590).
  

PubMed=9177196; DOI=10.1073/pnas.94.12.6210; PMCID=PMC21028
Ruth Halaban, Elaine Cheng, Yu-Hua Zhang, Gisela E. Moellmann, Douglas Hanlon, Marek Michalak, Vijayasaradhi Setaluri, Daniel N. Hebert;
Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells.
Proc. Natl. Acad. Sci. U.S.A. 94:6210-6215(1997)

PubMed=20149136; DOI=10.1111/j.1755-148X.2010.00685.x; PMCID=PMC2848976
Ruth Halaban, Wen-Geng Zhang, Antonella Bacchiocchi, Elaine Cheng, Fabio Parisi, Stephan Ariyan, Michael Krauthammer, James Patricia McCusker, Yuval Kluger, Mario Sznol;
PLX4032, a selective BRAF(V600E) kinase inhibitor, activates the ERK pathway and enhances cell migration and proliferation of BRAF melanoma cells.
Pigment Cell Melanoma Res. 23:190-200(2010)

PubMed=23012583; PMCID=PMC3447199
Fabio Parisi, Mariann Micsinai, Francesco Strino, Stephan Ariyan, Deepak Narayan, Antonella Bacchiocchi, Elaine Cheng, Fang Xu, Pei-Ning Li, Harriet Margot Kluger, Ruth Halaban, Yuval Kluger;
Integrated analysis of tumor samples sheds light on tumor heterogeneity.
Yale J. Biol. Med. 85:347-361(2012)

PubMed=26214590; DOI=10.1038/ng.3361; PMCID=PMC4916843
Michael Krauthammer, Yong Kong, Antonella Bacchiocchi, Perry Evans, Natapol Pornputtapong, Cen Wu, James Patricia McCusker, Shuang-Ge Ma, Elaine Cheng, Robert Straub, Merdan Serin ...Show all 20 authors... , Marcus W. Bosenberg, Stephan Ariyan, Deepak Narayan, Mario Sznol, Harriet Margot Kluger, Shrikant M. Mane, Joseph Schlessinger, Richard Priestley Lifton, Ruth Halaban; Show fewer authors
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Nat. Genet. 47:996-1002(2015)