BRCA1またはBRCA2変異の家族における症状前のDNA検査および予防手術
E J Meijers-Heijboer1, L C Verhoog, C T Brekelmans
1Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Lancet (London, England)
|July 8, 2000
まとめ
BRCA1/BRCA2変異のリスクが高い影響を受けていない女性は,遺伝子検査と予防手術の需要が高いことを示しています. 特に子供を持つ若い女性は,DNA検査と乳房切除を好む.
科学分野:
- 腫瘍学 腫瘍学
- 遺伝学 遺伝学とは
- 予防医学は,予防的な医療です.
背景:
- BRCA1およびBRCA2遺伝子の生殖系統変異は,乳がんおよび卵巣がんのリスクを大幅に増加させます.
- リスクのある家族における突然変異のキャリアを特定することは,監視と予防戦略の実施に不可欠です.
研究 の 目的:
- 既知のBRCA1またはBRCA2変異を持つ家族における症状前のDNA検査および予防手術の利用率を評価する.
- DNA検査と予防外科手術の決定のための予測要因を特定する.
主な方法:
- 既知のBRCA1/BRCA2変異を持つ53家族を,ロッテルダムファミリーがんクリニックで将来的に評価した.
- 単変数および多変数分析を使用して,検査および手術の利用率の予測要因を特定しました.
主要な成果:
- 48%の女性と22%の男性が,前症状のDNA検査を選択した.
- 女性では,DNA検査の利用率が若い人,子供を持つ人,および検査前の遺伝的リスクが高い人よりも高かった.
- 変異陽性女性の51%が予防性乳房切除手術を受け,64%が予防性卵巣切除手術を受け,子育てが乳房切除を予測し,年齢が卵巣切除を予測した.
結論:
- BRCA1/BRCA2遺伝子検査に対する需要が高いと,影響を受けていないリスクの高い女性が示しています.
- 変異を携えた女性は予防的手術の有意な受け入れを示し,乳房切除を好む子供を持つ若い女性がいます.
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