Analysis of polymorphisms of breast cancer and prostate cancer risk-associated genetic variations by using semiconductor-based next-gen sequencings

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K08720
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Epidemiology and preventive medicine
• Research Institution: Chiba Cancer Center (Research Institute)
• Principal Investigator: Nakamura Yohko 千葉県がんセンター(研究所), がん予防センター, 主席研究員 (60260254)
• Co-Investigator(Kenkyū-buntansha): 三上 春夫 千葉県がんセンター(研究所), がん予防センター, 部長 (10332355)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 乳がん / 前立腺がん / エクソーム解析 / がん関連遺伝子 / 次世代シークエンサー

Outline of Final Research Achievements

We conducted next-generation sequencing to identify potential genetic variants associated with the incidence of cancer in a cohort study containing 8,100 healthy individuals. We sequenced the genome of a cohort of individuals, including 40 breast cancer cases and 28 prostate cancer cases, and observed the recurrence of several functional non-synonymous SNVs with significant associations to the risk of cancer in 2 genes. Sanger sequencing also confirmed the recurrence of these mutations. We also analyzed polymorphisms of breast cancer related genes in the 40 breast cancer and found five amino acid substitutions in six of those 40 cases. Those substitutions were results of the presence of four known and one unknown SNPs. The risk variants characterized in this study can be a useful predictive tool for the early detection, diagnosis and monitoring of cancer. Analysis of those functional risk alleles may highlight the underlying mechanisms leading to oncogenesis in these risk populations.

Free Research Field

分子生物学