骨髄性乳がんと生殖線BRCA1変異:遺伝検査の可能な基準
Adriana I Apostol1,2, David Lim2,3, Steven A Narod4,5
1Dipartimento Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
骨髄性乳がんは,乳がんの希少なサブタイプである. BRCA1変異との強い関連性から,早期発見と予防を改善するための遺伝子検査の基準となるべきだと考えられる.
科学分野:
- 腫瘍学
- 遺伝学
- 病理学について
背景:
- 骨髄性乳がん (MBC) は珍しい侵襲性乳がんであり,全乳がんの0. 2%~6%を占めています.
- MBCはトリプルネガティブ乳がんとBRCA1変異の患者でより一般的です.
研究 の 目的:
- すべての乳がん診断のうちの髄膜乳がんの頻度を決定する.
- 骨髄性乳がんとBRCA1変異の関連性を評価する.
主な方法:
- 乳がんの組織構造とBRCA1変異の状態を報告した研究の体系的レビュー.
- 骨髄性乳がんにおけるBRCA1変異の割合と逆の分析
主要な成果:
- 骨髄性乳がんにおけるBRCA1変異の罹患率は3%から35. 3%である.
- 骨髄性乳がんは,すべてのBRCA1変異性乳がんの8%~20%を占める.
結論:
- 骨髄性乳がんとBRCA1変異との間に有意な関連性がある.
- 精髄性乳がんは,変異媒体のスクリーニングと予防戦略を強化するために,BRCA1遺伝子検査の基準として考慮されるべきである.
さらに関連する動画
08:15gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
Published on: October 6, 2014
09:22Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
Published on: February 28, 2021
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