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Biomark Res. 2017 May 11;5:17. doi: 10.1186/s40364-017-0098-3. eCollection 2017.

Clinical significance of intronic variants in BRAF inhibitor resistant melanomas with altered .

Biomarker research

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

Affiliations

  1. Centre for Cancer Research, The Westmead Millennium Institute for Medical Research, University of Sydney, Westmead Hospital, Westmead, NSW Australia.
  2. Melanoma Institute Australia, Sydney, NSW Australia.
  3. Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW Australia.
  4. Departments of Medical Oncology, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW Australia.
  5. Disciplines of Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW Australia.
  6. Oncogenomics Laboratory, QIMR Berghofer Medical Research Institute, Herston, Brisbane, QLD Australia.
  7. Disciplines of Pathology, Sydney Medical School, The University of Sydney, Sydney, NSW Australia.
  8. Departments of Tissue Pathology and Diagnostic Oncology Royal Prince Alfred Hospital, Camperdown, NSW Australia.

PMID: 28503307 PMCID: PMC5426037 DOI: 10.1186/s40364-017-0098-3

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

Keywords: BRAF inhibitor; BRAF splicing; Dabrafenib; Melanoma; Resistance

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