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Mutation Profile of B-Raf Gene Analyzed by fully Automated System and Clinical Features in Japanese Melanoma Patients

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Pathology & Oncology Research

Abstract

BRAF gene mutations have been observed in 30–50 % of malignant melanoma patients. Recent development of therapeutic intervention using BRAF inhibitors requires an accurate and rapid detection system for BRAF mutations. In addition, the clinical characteristics of the melanoma associated with BRAF mutations in Japanese patients have not been investigated on a large scale evaluation. We recently established quenching probe system (QP) for detection of an activating BRAF mutation, V600E and evaluated 113 melanoma samples diagnosed in Saga University Hospital from 1982 to 2011. The QP system includes fully automated genotyping, based on analysis of the probe DNA melting curve, which binds the target mutated site using a fluorescent guanine quenched probe. BRAF mutations were detected in 54 of 115 (47 %) including 51 of V600E and 3 of V600 K in Japanese melanoma cases. Among clinical subtypes of melanoma, nodular melanoma showed high frequency (12 of 15; 80 %) of mutation followed by superficial spreading melanoma (13 of 26; 50 %). The QP system is a simple and sensitive method to determine BRAF V600E mutation, and will be useful tool for patient-oriented therapy with BRAF inhibitors. Introduction

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Acknowledgments

Grant Support: Grants-in Aid for Cancer Research: Special Cancer Research, from the Ministry of Education, Culture, Sports, Science and Technology, Japan.

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Authors and Affiliations

  1. Department of Internal Medicine, Faculty of Medicine, Saga University, Saga, Japan

    Masaru Ide, Naoko Sueoka-Aragane, Akemi Sato, Yuri Nagano & Shinya Kimura

  2. Department of Dermatology, Faculty of Medicine, Saga University, Saga, Japan

    Shinichi Koba, Takuya Inoue, Noriyuki Misago & Yutaka Narisawa

  3. Department of Clinical Laboratory Medicine, Faculty of Medicine, Saga University, Saga, 849-8501, Japan

    Eisaburo Sueoka

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  1. Masaru Ide
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  2. Shinichi Koba
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  3. Naoko Sueoka-Aragane
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Correspondence to Eisaburo Sueoka.

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I. M, S. K., N. S., A. S., Y. N. ,T. I., N. S., A. S., Y. N. performed the analyses and obtained results. Pathological diagnosis was conducted by N.M. Y. N., S. K., and E. S. edited the paper. E.S. designed the research and wrote the paper.

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All authors declare that we have no conflicts of interest about any financial and personal relationships with other people or organizations.

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Ide, M., Koba, S., Sueoka-Aragane, N. et al. Mutation Profile of B-Raf Gene Analyzed by fully Automated System and Clinical Features in Japanese Melanoma Patients. Pathol. Oncol. Res. 23, 181–188 (2017). https://doi.org/10.1007/s12253-016-0121-2

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