在癌症患者中,在广泛的多基因小组测试中识别出意想不到的可操作的生殖系致病变体的流行率和分布
Kara K Landry1, Michael J DeSarno2, Lindsay Kipnis3
1Division of Hematology and Oncology, Department of Medicine, University of Vermont Medical Center, Burlington, VT.
在癌症患者的多基因小组测试 (MGPT) 中,在1.7%的病例中发现了致病变体 (PV),即使在个人或家庭病史中没有预测. 在可操作的癌症基因中,这些意想不到的发现可能会影响患者管理.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 癌症的倾向 癌症的倾向
背景情况:
- 多基因小组测试 (MGPT) 越来越多地用于癌症患者.
- 临床效用取决于识别可操作的变异.
- 仅仅基于个人/家庭病史来预测变异存在局限性.
研究的目的:
- 为了确定由MGPT发现的基于患者和家族癌症病史而出人意料的致病性/可能致病性变异 (PV) 的频率.
- 评估癌症倾向基因中意想不到的PVs的临床影响.
主要方法:
- 对10975名接受广泛MGPT (≥20个基因) 的癌症患者的回顾性审查.
- 排除低透性和衰退性基因.
- 分析未识别的血统,以评估对PVs的临床怀疑.
主要成果:
- 10.3%的患者在中度/高透性基因中至少有一种PV.
- 在1.7%的患者中,即使考虑了个人和家庭病史,也没有怀疑PVs.
- 意想不到的PV占所有确定的PV的16.9%,具有共同的基因包括MITF,PMS2和ATM.
结论:
- 在1.7%的癌症患者中,MGPT识别出意想不到的可操作的癌症倾向变体.
- 由于对监测,级联测试和治疗的影响,可能需要更广泛的MGPT小组.
- 这些发现强调了超越传统风险评估的综合基因测试的价值.
更多相关视频
11:15Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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
相关概念视频
Cancers Originate from Somatic Mutations in a Single Cell
Cancers Originate from Somatic Mutations in a Single Cell
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
