双重致病或可能致病变体在癌症倾向基因在匈牙利癌症患者的癌症基因
Tímea Pócza1,2, János Papp1,2, Anikó Bozsik1,2
1Department of Molecular Genetics and the National Tumor Biology Laboratory, National Institute of Oncology, 1122 Budapest, Hungary.
在癌症基因中的双重异构性 (DH) 在0.8%的匈牙利患者中被发现. 这一发现表明,DH与单个致病性变异携带者相比,不会增加癌症风险.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 医学研究 医学研究
背景情况:
- 在癌症易感基因中识别多种致病/可能致病 (P/LP) 变异对患者管理有重大影响.
- 关于双重异构性 (DH) 对癌症倾向基因的临床影响的数据有限.
研究的目的:
- 为了确定在接受瘤遗传咨询的匈牙利癌症患者中DH的患病率.
- 将DH载体的表型与单变体载体和非载体进行比较.
主要方法:
- 多基因面板测序对2050名患者进行.
- 根据ACMG指南,分析了48个已确定的癌症倾向基因的变异.
主要成果:
- 致病性/可能致病性 (P/LP) 变体在19.8%的患者中被发现.
- 在16例病例中观察到双重异性 (DH) (0.8%的所有患者,4.0%的阳性病例).
- 与单个P/LP载体或非载体相比,DH与多个原发性瘤无关.
结论:
- 在匈牙利遗传性癌症患者中,肝炎的发病率很低.
- 与单个P/LP突变的个体相比,DH似乎不会增加癌症风险.
- 可能需要进一步的研究来充分阐明DH在癌症倾向中的作用.
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