Development of Diagnostic methods for detection of breast cancer using cell free DNA

• Project/Area Number: 15K15187
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Laboratory medicine
• Research Institution: University of Tsukuba
• Principal Investigator: Noguchi Emiko 筑波大学, 医学医療系, 教授 (40344882)
• Co-Investigator(Kenkyū-buntansha): 坂東 裕子 筑波大学, 医学医療系, 准教授 (00400680)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 血中遊離DNA / セルフリーDNA / 乳がん

Outline of Final Research Achievements

The aim of this study is to investigate mutations of cell-free DNA (cfDNA) associated with breast cancer using next generation sequencer. We performed target sequences of TP53 and PIK3CA on 5 patients who were diagnosed with breast cancer. Mutations identified in these patients were also annotated with Catalogue Of Somatic Mutations In Cancer (COSMIC) database. We observed one somatic mutation at 7th exon of TP53 in several patients. In silico analysis revealed that this mutation is likely to influence on the function of TP53 protein.