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Absence of exon 15 BRAF germline mutations in familial melanoma†

  1. Julie Lang1,*,
  2. Maureen Boxer1,
  3. Rona MacKie2

Article first published online: 24 FEB 2003

DOI: 10.1002/humu.10188

Issue

Human Mutation

Human Mutation

Special Issue: Focus on p53 and Cancer

Volume 21, Issue 3, pages 327–330, March 2003

Additional Information

How to Cite

Lang, J., Boxer, M. and MacKie, R. (2003), Absence of exon 15 BRAF germline mutations in familial melanoma. Hum. Mutat., 21: 327–330. doi: 10.1002/humu.10188

Author Information

  1. 1

    Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK

  2. 2

    Department of Public Health, University of Glasgow, Glasgow, UK

*Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK

  1. †

    Communicated by Riccardo Fodde

Publication History

  1. Issue published online: 24 FEB 2003
  2. Article first published online: 24 FEB 2003
  3. Manuscript Accepted: 19 DEC 2002
  4. Manuscript Received: 13 SEP 2002

Funded by

  • The Shaw Charitable Trust

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Keywords:

  • melanoma, familial;
  • BRAF;
  • tumor;
  • cancer;
  • CDKN2A;
  • MC1R

Abstract

We have analyzed DNA from peripheral blood of 42 cases of familial melanoma for germline mutations in exon 15 of the BRAF gene. No evidence of mutation was found. We have also analyzed DNA extracted from secondary melanoma from two members of these families. These results were also negative. In addition we have searched for exon 15 BRAF mutations in 24 samples of secondary melanoma from 22 cases of sporadic melanoma and detected the 1796T>A BRAF mutation which leads to a substitution of valine by glutamic acid at position 599 (V599E) in six samples. Peripheral blood DNA from two of these tumor-positive cases of sporadic melanoma were negative for the V599E BRAF mutation. This mutation therefore appears to be a somatic mutation associated with melanoma development and/or progression in a proportion of affected individuals. Hum Mutat 21:327–330, 2003. © 2003 Wiley-Liss, Inc.

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