Title |
Clinical significance of intronic variants in BRAF inhibitor resistant melanomas with altered BRAF transcript splicing
|
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Published in |
Biomarker Research, May 2017
|
DOI | 10.1186/s40364-017-0098-3 |
Pubmed ID | |
Authors |
Gulietta M. Pupo, Suzanah C. Boyd, Carina Fung, Matteo S. Carlino, Alexander M. Menzies, Bernadette Pedersen, Peter Johansson, Nicholas K. Hayward, Richard F. Kefford, Richard A. Scolyer, Georgina V. Long, Helen Rizos |
Abstract |
Alternate BRAF splicing is the most common mechanism of acquired resistance to BRAF inhibitor treatment in melanoma. Recently, alternate BRAF exon 4-8 splicing was shown to involve an intronic mutation, located 51 nucleotides upstream of BRAF exon 9 within a predicted splicing branch point. This intronic mutation was identified in a single cell line but has not been examined in vivo. Herein we demonstrate that in three melanomas biopsied from patients with acquired resistance to BRAF inhibitors, alternate BRAF exon 4-8 splicing is not associated with this intronic branch point mutation. We also confirm that melanoma cells expressing BRAF splicing variants retain exquisite sensitivity to existing FDA-approved MEK inhibitors. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Australia | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 23 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 5 | 22% |
Researcher | 5 | 22% |
Other | 2 | 9% |
Student > Bachelor | 2 | 9% |
Professor | 1 | 4% |
Other | 2 | 9% |
Unknown | 6 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 5 | 22% |
Agricultural and Biological Sciences | 5 | 22% |
Medicine and Dentistry | 4 | 17% |
Social Sciences | 1 | 4% |
Unknown | 8 | 35% |