BRAF point mutations in primary melanoma show different prevalence by subtype

Yoshinori Sasaki, Chunbo Niu, Rui Makino, Chieko Kudo, Chunlan Sun, Hiroshi Watanabe, Jun Matsunaga, Kazuhiro Takahashi, Hachiro Tagami, Setsuya Aiba, Akira Horii

Research output: Contribution to journalArticlepeer-review

84 Citations (Scopus)


To elucidate the biological significance of activating mutations of BRAF in human malignant tumors, we performed a mutation analysis using 43 cell lines established from tumors that had developed in several kinds of human organs. Because the same V599E point mutation was observed in three of six melanoma cell lines and no such mutations were observed in other types of cancers, we focused further on melanoma, performed mutation analyses of NRAS, KRAS, CTNNB1, and p16/p14ARF in these cell lines, and found one NRAS mutation and three p16/p14ARF mutations. We further searched for mutations of BRAF and NRAS in 35 primary sporadic melanomas from 35 Japanese patients and detected the V599E BRAF point mutation in only nine (26%) of them. Significant differences in mutation frequency were observed among four histological subtypes; four (50%) of eight superficially spreading melanoma and five (33%) of 15 acral lentiginous melanoma had the mutation, whereas none of 12 other types (six nodular melanoma, five lentigo melanoma, and one mucosal melanoma) had it. The BRAF mutation was observed frequently even in small lesions, indicating that activation of this gene may be one of the early events in the pathogenesis of some melanomas.

Original languageEnglish
Pages (from-to)177-183
Number of pages7
JournalJournal of Investigative Dermatology
Issue number1
Publication statusPublished - 2004 Jul
Externally publishedYes


  • BRAF
  • CTNNB1
  • Melanoma
  • NRAS
  • p14
  • p16

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology


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