Genetic analysis of familial prostate cancer: family history and heredity

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K09366
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56030:Urology-related
• Research Institution: Gunma University
• Principal Investigator: Suzuki Kazuhiro 群馬大学, 大学院医学系研究科, 教授 (80312891)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: 前立腺癌 / 家族歴 / HOXB13 / BRCA

Outline of Final Research Achievements

Family history of prostate cancer is recognized as a risk factor for prostate cancer. We collected pedigrees of familial prostate cancer, and performed genetic analyses for HOXB13 gene and BRCA genes. In Japanese familial prottate cancer, G132E and F127C variants were considered to be related to risks of developed familial prostate cancer. Interestingly, HOXB13 G132E and F127C were not considered as risk genetic variants in Caucasian prostate cancer in which G84E was recognized as the risk variant. BRCA gene mutations gather attentions of urologists due to indication for PARP inhibitors in castration-resistant prostate cancer. We checked 17 common variants of BRCA2 gene. Frequencies of these variants did not show significant differences among familial, sporadic and non prostate cancers. Thus, BRCA common variants were not considered as significant indicators for familial prostate cancer.

Free Research Field

前立腺癌

Academic Significance and Societal Importance of the Research Achievements

日本人家族性前立腺癌家系の遺伝子解析を行い、欧米で認知されていたHOXB13遺伝子変異G84Eとは異なる遺伝子変異であるG132EおよびF127Cに関連があることが初めて分かった点重要な結果である。多因子が関連している前立腺癌発症において遺伝的素因は現在BRCA遺伝子の病的変異とPARP阻害剤の適応の点で関心が寄せられている分野であるが、欧米との差が確認された点は、今後のリスク評価やコンパニオン診断において、本邦症例の特徴を明らかにしていく重要性の一端を示唆した研究結果であると考えている。