Liquid biopsy sequencing for liver cancer and pancreatic tumor

2017 Fiscal Year Final Research Report

• Project/Area Number: 15H04814
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Gastroenterology
• Research Institution: Institute of Physical and Chemical Research
• Principal Investigator: Nakagawa Hidewaki 国立研究開発法人理化学研究所, 統合生命医科学研究センター, チームリーダー (50361621)
• Co-Investigator(Kenkyū-buntansha): 山上 裕機 和歌山県立医科大学, 医学部, 教授 (20191190)
• Co-Investigator(Renkei-kenkyūsha): Kawakami Yoshiiku 広島大学, 医学部, 講師 (70403516) ; Fujimoto Akihiro 国立研究開発法人理化学研究所, 統合生命医科学研究センター, 副チームリーダー (30525853) ; Wardell Chris 国立研究開発法人理化学研究所, 統合生命医科学研究センター, 研究員 (70748805)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: Liquid biopsy / シークエンス / 肝臓がん / 膵臓がん / IPMT / 膵液

Outline of Final Research Achievements

Exome sequencing of the cfDNAs (cell-free DNAs) in pancreatic juices from 37 IPMT patients and a half of samples were found to have KRAS or GNAS mutations and some had mutations of TP53 and RNF43. Loss of 17p13 and amplification of 8q24 were found in the pancreatic juice cfDNAs. We identified some genomic markers in pancreatic juices associated with histological grade of IPMT. We also deeply sequenced 100 liver cancer genes of plasma cfDNA from seven liver cancer patients after constructing new NGS libraries installed with molecular barcoding system. We improved the algorism to obtain the consensus reads and read filtering from these data, and succeed in calling somatic variants with more than 1% of VAF (variant allele frequency) in cfDNA. But less than 1% VAF is still difficult to discriminate from PCR and sequencing errors.

Free Research Field

医歯薬学