臨床外科75巻8号

2020年08月発行

特集 遺伝性腫瘍とゲノム医療を学ぶ 遺伝性腫瘍

遺伝性胃がん

著者： 椙村春彦¹ 山田英孝¹

所属機関： ¹浜松医科大学腫瘍病理学講座

ページ範囲：P.912 - P.916

【ポイント】
◆CDH1遺伝子の生殖細胞系変異が遺伝性びまん性胃がんの原因である．CDH1の変異が見つかるのはほぼ1/3以下で，未知の原因の探索には非発症者も含めた複数の家系内の情報を得る必要がある．また，家族歴のみでなく，組織型や多発性が特色となる．
◆パネル検査も含め，検査の拠点がある．
◆遺伝カウンセリングではその時点で非発症者への説明も必要になる．

参考文献

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