INTESTINE Vol.22 No.5(6)


特集名 大腸腫瘍の分子生物学
題名 遺伝性(家族性)消化管腫瘍における分子異常
発刊年月 2018年 09月
著者 田村 和朗 近畿大学理工学部生命科学科分子生物学
【 要旨 】 遺伝性(家族性)消化管腫瘍は常染色体性優性遺伝形式が多く,発端者の子孫は50%リスクを有する.それぞれの原因遺伝子が単離され,疾患の統合的理解とともに遺伝学的検査が可能となってきた.遺伝学的検査を用いた発症前診断が行われるならば癌の早期診断が徹底され,癌対策上大きく貢献することが期待される.遺伝的異質性が存在するので,遺伝学的検査は鑑別診断に力を発揮する.疾患と癌関連遺伝子の特徴と特殊性を十分把握し,遺伝学的検査を癌診療向上のために活用する癌ゲノム医療が実装されることが望まれる.
Theme Molecular biology of colorectal tumors
Title Molecular abnormalities of hereditary/familial gastrointestinal tumors
Author Kazuo Tamura Laboratory of Molecular Biology, Department of Life Science, Faculty of Science and Engineering, Kinki University
[ Summary ] Most hereditary gastrointestinal tumors are associated with autosomal dominant inheritance. Therefore, one in two off spring of the proband have a risk of these tumors. Each responsible gene has been isolated, and genetic testing has become possible with the integrated understanding of the disorders. Using genetic testing for presymptomatic diagnosis enables an early diagnosis, thus leading to progress in anti-cancer measures. As hereditary heterogeneity exists for these diseases, genetic testing becomes useful for a differential diagnosis with other related diseases. When the characteristics and specialties of hereditary/familial gastrointestinal tumors syndrome and their responsible genes are sufficiently understood, genetic testing should be utilized for the improvement of cancer medicine.
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