リスク評価,遺伝子カウンセリング,BRCA関連がんの遺伝子検査:米国予防サービスタスクフォースの勧告声明

, Douglas K Owens^1,2, Karina W Davidson³

¹Veterans Affairs Palo Alto Health Care System, Palo Alto, California.

JAMA

|August 21, 2019

まとめ

主治医は,BRCA1/ 2関連がんの家族歴のある女性に対して遺伝的リスクを評価すべきである. 遺伝的リスクの評価は,そのような経歴のない女性には推奨されません.

科学分野:

遺伝学
腫瘍学
予防医療

背景:

BRCA1/2遺伝子の有害な変異は,乳がん,卵巣がん,卵管がん,腹膜がんのリスクを高めます.
BRCA1/ 2変異は乳がんの5〜10%,卵巣がんの15%を占めています.
これらの変異は,アメリカでは300~500人の女性のうち1人に発生します.

研究の目的:

2013年の米国予防サービスタスクフォース (USPSTF) のBRCA関連がんリスク評価,遺伝子カウンセリング,検査に関する勧告を更新する.
BRCA1/2変異の女性に対する介入の評価

主な方法:

USPSTFは,リスク評価,遺伝子カウンセリング,BRCA1/2変異の検査に関する証拠をレビューした.
スクリーニング,薬,手術などの介入に関する証拠も検討されました.
このレビューには,無症状の女性およびBRCA関連がん歴のある女性が含まれていました.

主要な成果:

リスクが高い女性 (家族/個人歴,祖先) の場合,評価,カウンセリング,検査,介入の利点は中等です.
危険因子が増えない女性にとっては利益はほとんどないのです
これらの介入の全体的な害は,すべての女性にとって小さいから中等です.

結論:

臨床医は,関連する BRCA1/ 2 変異リスクの既往歴または祖先を持つ女性を評価する必要があります.
リスク評価が陽性な女性は遺伝子カウンセリングと検査を受けるべきです
リスク因子がない女性には,定期的な評価は推奨されません.

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