综合性临床遗传学,分子和病理评估有效地协助诊断和治疗选择在乳腺癌患者与遗传遗传背景的患者
Petra Nagy1, János Papp1,2, Vince Kornél Grolmusz1,2
1Department of Molecular Genetics and The National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Centre, Ráth György u. 7-9, 1122 Budapest, Hungary.
综合遗传性癌症基因组测试显著增加了在患有遗传性乳腺和卵巢癌 (HBOC) 综合征的患者中检测可采取行动的变异. 扩展测试发现了更多的致病变体,有助于个性化管理和治疗选择.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 在瘤学瘤学.
- 临床诊断 临床诊断 临床诊断
背景情况:
- 遗传性乳腺和卵巢癌 (HBOC) 综合征诊断依赖于识别高和中等透基因中的可操作变体.
- 多基因面板测试提供了比单基因或有限面板测试更广泛的诊断范围.
研究的目的:
- 评估在怀疑HBOC的匈牙利患者中综合遗传性癌症基因组测试的临床实用性.
- 评估前测试问卷结合扩展遗传小组测试的诊断产量.
主要方法:
- 预计将招募513名患者进行HBOC测试,其中463人符合标准,50人接受治疗指示测试.
- 对47名以前仅对BRCA1/2.2进行过检测的患者进行了回顾性分析.
- 利用多基因小组测试和临床和血统数据收集的测试前问卷.
主要成果:
- 致病性/可能致病性 (P/LP) 变体在前性队列的20.7% (96/463) 和后性队列的12.7% (6/47) 中被确定.
- 扩展测试使P/LP变异的检测率翻了一番,其中BRCA1/2变异是最常见的 (58.3%).
- 在中度透基因中发现了P/LP变异,包括与林奇综合征相关的基因,免疫组织化学有助于变异解释.
结论:
- 综合遗传性癌症基因组测试对诊断和管理HBOC综合征患者具有临床益处.
- 扩展基因评估改善了变体检测,并支持个性化治疗选择,包括PARP抑制剂和免疫治疗.
更多相关视频
11:34Building Up a High-throughput Screening Platform to Assess the Heterogeneity of HER2 Gene Amplification in Breast Cancers
Published on: December 5, 2017
07:41Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases
Published on: May 17, 2019
相关概念视频
Cancer-Critical Genes I: Proto-oncogenes
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 Prevention
Some...
Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
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...
