title: Clinicopathological characteristics associated with BRAF(K601E) and BRAF(L597) mutations in melanoma.
abstract: BRAF mutations at codons L597 and K601 occur uncommonly in melanoma. Clinical and pathological associations of these mutations were investigated in a cohort of 1119 patients with known BRAF mutation status. A BRAF mutation was identified in 435 patients; Mutations at L597 and the K601E mutation were seen in 3.4 and 3.2% of these, respectively. K601E melanomas tended to occur in male patients, a median age of 58 yr, were generally found on the trunk (64%) and uncommonly associated with chronically sun-damaged (CSD) skin. BRAF L597 melanomas occurred in older patients (median 66 yr), but were associated with CSD skin (extremities or head and neck location - 73.3%, P = 0.001). Twenty-three percent of patients with V600E- and 43% of patients with K601E-mutant melanomas presented with nodal disease at diagnosis compared to just 14% of patients with BRAF wild-type tumors (P = 0.001 and 0.006, respectively). Overall, these mutations represent a significant minority of BRAF mutations, but have distinct clinicopathological phenotypes and clinical behaviors.
authors.affiliation: Peter MacCallum Cancer Centre, East Melbourne, Vic., Australia.|Victorian Melanoma Service, Alfred Hospital, Prahran, Melbourne, Vic., Australia.
authors.forename: Mark
authors.identifier: http://orcid.org/0000-0002-4242-1300
authors.initials: M
authors.lastname: Voskoboynik
authors.affiliation: Victorian Melanoma Service, Alfred Hospital, Prahran, Melbourne, Vic., Australia.|Skin and Cancer Foundation, Melbourne, Vic., Australia.|Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Vic., Australia.
authors.forename: Victoria
authors.initials: V
authors.lastname: Mar
authors.affiliation: Peter MacCallum Cancer Centre, East Melbourne, Vic., Australia.
authors.forename: Sonia
authors.initials: S
authors.lastname: Mailer
authors.affiliation: Peter MacCallum Cancer Centre, East Melbourne, Vic., Australia.
authors.forename: Andrew
authors.initials: A
authors.lastname: Colebatch
authors.affiliation: Peter MacCallum Cancer Centre, East Melbourne, Vic., Australia.
authors.forename: Anne
authors.initials: A
authors.lastname: Fennessy
authors.affiliation: Peter MacCallum Cancer Centre, East Melbourne, Vic., Australia.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Logan
authors.affiliation: Peter MacCallum Cancer Centre, East Melbourne, Vic., Australia.
authors.forename: Chelsee
authors.initials: C
authors.lastname: Hewitt
authors.affiliation: School of Cancer Medicine, La Trobe University, Olivia Newton-John Cancer Research Institute, Heidelberg, Vic., Australia.
authors.forename: Jonathon
authors.initials: J
authors.lastname: Cebon
authors.affiliation: Victorian Melanoma Service, Alfred Hospital, Prahran, Melbourne, Vic., Australia.
authors.forename: John
authors.initials: J
authors.lastname: Kelly
authors.affiliation: Peter MacCallum Cancer Centre, East Melbourne, Vic., Australia.|Melbourne University, Parkville, Vic., Australia.
authors.forename: Grant
authors.initials: G
authors.lastname: McArthur
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D019943:Amino Acid Substitution; D016208:Databases, Factual; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D020125:Mutation, Missense; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics / Q000378:metabolism; D012189:Retrospective Studies; D012737:Sex Factors; D012878:Skin Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF K601E; BRAF L597; BRAF mutation; primary melanoma