消化管領域における遺伝性疾患

Hereditary diseases in the gastrointestinal tract

大腸癌の罹患率・死亡率は増加傾向である。大腸癌は全がんのうち2019年のがん罹患患者数予測では男性が1位，女性では2位，男女合計で1位であり，がん死亡者数予測でも男性は3位，女性では1位となっている^1）。大腸癌は，全大腸癌のうち30％が家族集積性を認めるとされており，さらに5％未満で原因遺伝子が同定されている。

Hereditary diseases in the gastrointestinal tract are often presented as multiple polyposis or cancer. Hereditary gastrointestinal cancer syndromes, such as familial adenomatous polyposis and hereditary non-polyposis colorectal cancer, are a group of disorders associated with inherited genetic mutations, Patients with hereditary gastrointestinal cancer syndromes have a great risk of cancer involving not only in the gastrointestinal tract, but also in multiple other organs. Recent studies identified the responsible genes and help predict future cancer risks in these patients. Knowledge of the imaging features of various hereditary gastrointestinal cancer syndrome can lead to appropriate management of patients and their members.