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High frequency of BRAF mutations in nevi

Pollock, P.M., Harper, U.L., Hansen, K.S., Yudt, L.M., Stark, M., Robbins, C.M., Moses, T.Y., Hostetter, G., Wagner, U., Kakareka, J., Salem, G., Pohida, T., Heenan, P., Duray, P., Kallioniemi, O., Hayward, N.K., Trent, J.M., & Meltzer, P.S. (2003) High frequency of BRAF mutations in nevi. Nature Genetics, 33(1), pp. 19-20.

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Abstract

To evaluate the timing of mutations in BRAF (v-raf murine sarcoma viral oncogene homolog B1) during melanocytic neoplasia, we carried out mutation analysis on microdissected melanoma and nevi samples. We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. These data suggest that mutational activation of the RAS/RAF/MAPK pathway in nevi is a critical step in the initiation of melanocytic neoplasia but alone is insufficient for melanoma tumorigenesis.

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829 citations in Scopus
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751 citations in Web of Science®

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ID Code: 45824
Item Type: Journal Article
Additional URLs:
Keywords: Cell Transformation, Neoplastic/genetics, DNA Mutational Analysis, Gene Frequency, Genetic Predisposition to Disease, Humans, Melanoma/ genetics/pathology, Mutation, Missense/ genetics, Nevus/ genetics/pathology, Oncogene Proteins v-raf/chemistry/ genetics, Polymerase Chain Reaction, Signal Transduction
DOI: 10.1038/ng1054
ISSN: 1061-4036
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > ONCOLOGY AND CARCINOGENESIS (111200) > Cancer Cell Biology (111201)
Divisions: Past > Schools > Cell & Molecular Biosciences
Past > QUT Faculties & Divisions > Faculty of Science and Technology
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 09 Sep 2011 14:52
Last Modified: 09 Sep 2011 14:52

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