本邦Lynch症候群の特徴

Characteristics of Lynch Syndrome in Japan

要旨●Lynch症候群はミスマッチ修復遺伝子の生殖細胞系列の病的バリアントを主な原因とする常染色体顕性（優性）遺伝形式の遺伝性腫瘍症候群で，大腸癌や子宮内膜癌をはじめとしたさまざまな臓器に悪性腫瘍が発生する疾患である．Lynch症候群は遺伝性大腸癌の中で最も頻度の高い疾患だが，海外と比較し，本邦からの頻度，治療法，予後，サーベイランス法などのエビデンスは乏しい．また近年，がんゲノムプロファイリング検査が開始され，Lynch症候群が発見される機会が増加することも示唆される．海外ではLynch症候群を登録するデータベースの整備が進みつつあるが，本邦ではまだ十分に整備されておらず，今後の構築が望まれる．

　Lynch syndrome, an inherited tumor syndrome with autosomal dominant inheritance, is primarily caused by germline pathologic variants of mismatch repair genes and results in a range of malignant tumors in various organs, including colorectal and endometrial carcinoma. Lynch syndrome is one of the most frequent causes of hereditary colorectal cancer. However, our knowledge regarding the syndrome's frequency, treatment, prognosis, and surveillance methods in Japan's population is limited compared to Western countries. Recent widespread utilization of cancer genome profiling is expected to improve the diagnosis of individuals with Lynch syndrome. Databases of individuals with Lynch syndrome, which are being established in Western countries, are under development in Japan and should be established in the near future.