• Mutation; HGNC; 7765; NF1; Simple; p.Gln853Ter (c.2557C>T); ClinVar=VCV001318665; Zygosity=Unspecified (PubMed=26214590).
  
• Mutation; HGNC; 7765; NF1; Simple; p.Lys2552Thrfs*2; Zygosity=Unspecified (PubMed=26214590).
  

PubMed=20149136; DOI=10.1111/j.1755-148X.2010.00685.x
Halaban R., Zhang W., Bacchiocchi A., Cheng E., Parisi F., Ariyan S., Krauthammer M., McCusker J.P., Kluger Y., Sznol M.
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=21521745; DOI=10.1158/1541-7786.MCR-10-0512
Tworkoski K., Singhal G., Szpakowski S., Zito C.I., Bacchiocchi A., Muthusamy V., Bosenberg M.W., Krauthammer M., Halaban R., Stern D.F.
Phosphoproteomic screen identifies potential therapeutic targets in melanoma.
Mol. Cancer Res. 9:801-812(2011)

PubMed=21543894; DOI=10.4161/cc.10.11.15777
Chan E., Patel R., Nallur S., Ratner E., Bacchiocchi A., Hoyt K., Szpakowski S., Godshalk S., Ariyan S., Sznol M., Halaban R., Krauthammer M., Tuck D., Slack F.J., Weidhaas J.B.
MicroRNA signatures differentiate melanoma subtypes.
Cell Cycle 10:1845-1852(2011)

PubMed=22842228; DOI=10.1038/ng.2359
Krauthammer M., Kong Y., Ha B.H., Evans P., Bacchiocchi A., McCusker J.P., Cheng E., Davis M.J., Goh G., Choi M., Ariyan S., Narayan D., Dutton-Regester K., Capatana A., Holman E.C., Bosenberg M.W., Sznol M., Kluger H.M., Brash D.E., Stern D.F., Materin M.A., Lo R.S., Mane S., Ma S.-G., Kidd K.K., Hayward N.K., Lifton R.P., Schlessinger J., Boggon T.J., Halaban R.
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
Nat. Genet. 44:1006-1014(2012)

CLPUB00386
Heffernan R.V.
Cancer's gifts with love & hope.
(In) ISBN 9781475990607; pp.1-196; iUniverse; Bloomington (2013)

PubMed=26214590; DOI=10.1038/ng.3361
Krauthammer M., Kong Y., Bacchiocchi A., Evans P., Pornputtapong N., Wu C., McCusker J.P., Ma S.-G., Cheng E., Straub R., Serin M., Bosenberg M.W., Ariyan S., Narayan D., Sznol M., Kluger H.M., Mane S., Schlessinger J., Lifton R.P., Halaban R.
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Nat. Genet. 47:996-1002(2015)