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臨床婦人科産科76巻1号

2022年01月発行

文献概要

合併増大号 今月の臨床 産婦人科医が知っておきたい臨床遺伝学のすべて 腫瘍

Lynch症候群に対応するための知識―遺伝性疾患としての病態,診断法,治療ないし対応法と説明の際の留意点

著者: 志鎌あゆみ1

所属機関: 1筑波大学産婦人科

ページ範囲:P.96 - P.103

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●Lynch症候群は,DNAミスマッチ修復遺伝子の生殖細胞病的バリアントに起因し,大腸がんや子宮体がんの生涯罹患リスクが高い常染色体優性(顕性)遺伝性腫瘍である.

MSH6病的バリアントでは,特に子宮体がんの罹患リスクが高いなど,病的バリアントを有する遺伝子の種類により,がん罹患リスクが異なる.

●子宮体がんの約3%がLynch症候群であるが,臨床像からLynch症候群を推定することが困難であるため,全子宮体がん患者に対し,腫瘍組織を用いたMSI検査やMMR蛋白の免疫組織化学染色による評価を行うユニバーサルスクリーニングが提案されている.

参考文献

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掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1294

印刷版ISSN:0386-9865

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