瘤测序是否有效用于鉴定生殖线BRCA1/2病原性变异载体?
Jacopo Azzollini1, Iolanda Capone2, Matteo Duca3
1Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.
Tumori
|September 23, 2024
概括
瘤BRCA1/2测序有效地识别了潜在的生殖系载体,特别是在卵巢癌中. 这种方法有助于基因测试,并降低了医疗保健负担.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子诊断学 分子诊断
背景情况:
- 瘤BRCA1 / 2测序的使用正在增加,这是由于对多聚ADP-ribose) 聚合酶抑制剂的适用范围扩大.
- 鉴定生殖系BRCA1/2变体对于向治疗和遗传性癌症风险评估至关重要.
研究的目的:
- 评估工作流程的可行性和结果,以使用瘤测序数据识别生殖系BRCA1/2载体.
- 评估各种瘤类型中致病性BRCA1/2变异的频率及其在预测生殖线状态中的有用性.
主要方法:
- 2020年患者瘤BRCA1/2检测结果的回顾性审查 (2020年4月 - 2022年12月).
- 瘤测试使用了小型 (仅BRCA1/2) 或全面的下一代测序面板.
- 患有致病性/可能致病性变异的患者被转诊接受遗传咨询和生殖系检测.
主要成果:
- 在7%的瘤中发现了致病性BRCA1/2变体 (145/2020),卵巢癌的频率最高 (23%).
- 高度卵巢癌的变异频率为27%.
- 在79名转诊为生殖线检测的患者中,有61% (48/79) 确诊了生殖线致病变体.
结论:
- 瘤到生殖线测试方法有效地识别了各种瘤类型的假定生殖线BRCA1/2载体.
- 这一策略可以加强携带者识别,减少遗传服务的负担,并简化测试途径.
相关概念视频
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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...
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...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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...
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...