Identification of causative genes for hereditary cancer by genome analyses of familial cancer cases and its application

2015 Fiscal Year Final Research Report

• Project/Area Number: 25430180
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Medical genome science
• Research Institution: Research Institute, Osaka Medical Center for Cancer and Cardiovascular Disaeses
• Principal Investigator: Kukita Yoji 地方独立行政法人大阪府立病院機構大阪府立成人病センター(研究所), 研究所, 主任研究員 (60372744)
• Co-Investigator(Kenkyū-buntansha): KATO Kikuya 大阪府立成人病センター, 研究所, 部門長 (60194809)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 疾患関連遺伝子 / 癌

Outline of Final Research Achievements

We collected family members developed lung cancer, gastric cancer or sarcoma, and performed whole-exome sequencing on DNA from their blood. A CHEK2 mutation detected in lung cancer siblings was concluded to be the cause of multiple primary lung cancer with accompanying cancers in other organs. In other cases, mutations that caused cancers were not detected.
We developed a high sensitive method to detect rare mutations in blood from cancer patients using deep sequencing. Further, by using molecular barcode technology, we developed a method to determine the nucleotide sequence with high accuracy, and to absolutely quantify DNA molecules.

Free Research Field

ゲノム科学