臨床婦人科産科76巻3号

2022年04月発行

今月の臨床 がん遺伝子検査に基づく婦人科がん治療―最前線のレジメン選択法を理解する

遺伝子診断

BRCA病的バリアントが検出された際の対応

著者： 植野さやか¹ 平沢晃¹

所属機関： ¹岡山大学大学院医歯薬学総合研究科臨床遺伝子医療学

ページ範囲：P.324 - P.331

文献概要

●遺伝性乳がん卵巣がん（HBOC）の診断は家系診断であり，がん治療方針の決定だけでなく，家系全体のがん予防においても有益な情報となる．

●BRCA1/2遺伝子の病的バリアントはHBOC診断を目的とした検査以外でも検出されるため，それぞれの検査の特性と検出されるバリアントについての理解が必要である．

●HBOCは長期にわたって，遺伝カウンセリングを含めた医学的介入を要する．また，バリアント保持者個々の状況に合わせたがん予防・治療戦略が重要である．

参考文献

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CDx Technical Information.

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