Abstract 4220: Establishment of a rapid and automated detection system for BRAF mutations in malignant melanoma.

Abstract

BRAF gene mutations have been observed in 30-70% of malignant melanoma patients. Recent development of therapeutic intervention using BRAF inhibitors requires an accurate and rapid detection system for BRAF mutations. In addition, there are only a few reports that investigated the clinical characteristics of the melanoma associated with BRAF mutations in Japanese patients 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 V600K 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.

Citation Format: Masaru Ide, Shinichi Koba, Yumi Nagano, Naoko Aragane-Sueoka, Akemi Sato, Takuya Inoue, Naomi Kobayashi, Noriyuki Misago, Yutaka Narisawa, Shinya Kimura, Eisaburo Sueoka. Establishment of a rapid and automated detection system for BRAF mutations in malignant melanoma. [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr 4220. doi:10.1158/1538-7445.AM2013-4220