Clinical significance of intronic variants in BRAF inhibitor resistant melanomas with altered BRAF transcript splicing.
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ABSTRACT:
SUBMITTER: Pupo GM
PROVIDER: S-EPMC5426037 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Publications
Clinical significance of intronic variants in BRAF inhibitor resistant melanomas with altered <i>BRAF</i> transcript splicing.
Pupo Gulietta M GM Boyd Suzanah C SC Fung Carina C Carlino Matteo S MS Menzies Alexander M AM Pedersen Bernadette B Johansson Peter P Hayward Nicholas K NK Kefford Richard F RF Scolyer Richard A RA Long Georgina V GV Rizos Helen H
Biomarker research 20170511
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 <i>BRAF</i> 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 inhi ...[more]
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