消化器癌の遺伝子検査

Genetic testing for digestive organ cancers

　消化器癌の遺伝子検査として，UGT1A1遺伝子多型，KRAS遺伝子変異，C-KIT遺伝子変異の3つが臨床応用されている．UGT1A1遺伝子多型検査は2つの主要な多型を検出し，イリノテカンによる重篤な副作用予防を目的とする．現状では変異アリルを有する患者におけるイリノテカンの適切な用量が不明であり，臨床試験によるエビデンスの蓄積が必要である．KRASおよびC-KIT遺伝子変異検査は癌の体細胞変異を検出する．分子標的治療薬の臨床効果を予測できるため，今後検査数の増加が予想される．

UGT1A1 gene polymorphisms, KRAS gene mutation and C-KIT gene mutation are now being used in the clinical setting as genetic testing for digestive organ cancers.　The UGT1A1 test detects two major polymorphisms for the purpose of prevention of severe side effects of irinotecan.　However, accumulation of clinical evidence is urgent, because the proper dose of irinotecan for individuals with minor alleles of UGT1A1 polymorphisms is unclear at present.　KRAS and C-KIT tests are undertaken to find somatic mutations of cancers.　As they can predict the clinical effects of molecular targeting drugs, the number of these tests is expected to increase hereafter.