21種類の腫瘍のがん遺伝子の発見と飽和分析
Michael S Lawrence1, Petar Stojanov2, Craig H Mermel3
1Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
Nature
|January 7, 2014
まとめ
ヒトがんの大規模ゲノム分析により,既知のがん遺伝子と33の新規,大きく変異した遺伝子が特定されました. より多くのサンプルを用いたさらなる研究により,追加のがん遺伝子が明らかになり,将来のがんゲノミクス研究に指針となるでしょう.
科学分野:
- ゲノミクスゲノミクスとは
- 癌生物学 癌生物学について
- バイオインフォマティックス
背景:
- ほとんどのがん遺伝子は,腫瘍の中間周波数 (2-20%) で変異している.
- すべてのがんを誘発する遺伝子を特定することは,包括的ながんゲノミクスにとって極めて重要です.
研究 の 目的:
- 総合的ながん遺伝子カタログを作成する可能性を評価する.
- 大規模なゲノム分析を通じて新しいがん遺伝子を特定する.
主な方法:
- エクソーム配列における体点変異の分析.
- 21種類の癌のヒトがんの4742種を研究し,正常組織とマッチしたサンプルを採取した.
- 将来の遺伝子発見を予測するためにダウンサンプリング分析を使用しました.
主要な成果:
- 大規模なゲノム解析により,既知の癌遺伝子が成功裏に特定されました.
- これまでに未知であった33の癌における著しく変異した遺伝子を発見した.
- 増殖,アポトーシス,ゲノム安定などに関与する遺伝子を特定した.
結論:
- 大規模なゲノム解析を通じて,癌の遺伝子に関する包括的なカタログを作成することが可能である.
- さらにサンプルサイズを増やすことで,より臨床的に重要ながん遺伝子が発見されるでしょう.
- 結果は,がんゲノミクス研究の次の段階のための基盤を提供します.
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