遺伝性消化管腫瘍と遺伝子異常

Hereditary Gastrointestinal Tumors and Genetic Alterations

要旨　遺伝性消化管腫瘍は常染色体性優性遺伝形式が多く，その場合発端者の子孫は50％のリスクを有する．遺伝子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．しかし，遺伝的異質性が存在するので，遺伝子検査は鑑別診断としても力を発揮する．疾患と癌関連遺伝子の特徴と特殊性を十分把握し，遺伝子検査を癌診療向上のために活用する必要がある．

　Most hereditary gastrointestinal tumors are due to autosomal dominant inheritance paths. For this reason, the offspring of the proband have a risk of 50％. By undergoing presymptomatic diagnosis using genetic testing, early diagnosis will be more possible and anti-cancer measures will make better progress. In relational diseases, hereditary heterogeneity is an important factor, so genetic testing becomes useful for a differential diagnosis. We have sufficient knowledge of the special charasteristics of hereditary gastrointestinal tumors and their responsible genes, so we should utilize genetic testing for improvement of cancer treatment medicine.