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BRAF V600 mutations in Langerhans cell histiocytosis with a simple and unique assay.


ABSTRACT:

Background

BRAF (V-raf murine sarcoma viral oncogene homolog B1) is a serine-threonine protein kinase involved in cell survival, proliferation, and differentiation. The most common missense mutation of BRAF (mainly V600E) contributes to the incidence of various cancers, including Langerhans cell histiocytosis (LCH). BRAF inhibitors molecularly targeting the V600E mutation have been developed to counteract the effect of the mutation. To ensure the administration of effective pharmacotherapy, it is therefore imperative to develop an effective assay to screen LCH patients for the V600E mutation. However, tumor tissues of LCH typically contain many inflammatory cells which make a correct judgement of the mutation status difficult in the DNA sequence analysis.

Results

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SUBMITTER: Tatsuno M 

PROVIDER: S-EPMC4837618 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature