乳腺癌患者的临床病理特征和BRCA1/BRCA2致病变体
Nazan Eras1, Ferah Tuncel2, Zuhal Altıntas1
1Department of Medical Genetics, Faculty of Medicine, Mersin University, Mersin, Turkey.
概括
土耳其乳腺癌患者的致病性BRCA1/2变体与较高的瘤等级和三阴性状态有关. 需要对不同人群进行进一步的研究,以澄清这些临床病理学关系.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- BRCA1和BRCA2 (BRCA) 基因是已知的乳腺癌易感基因.
- 乳腺癌患者与BRCA1/2致病变体的临床病理特征需要进一步定义.
研究的目的:
- 为了确定BRCA1/2变异在土耳其人口中的分布.
- 在土耳其乳腺癌患者中,将BRCA1/2变异与临床病理特征相关联.
主要方法:
- 来自151名接受BRCA1/2基因检测的女性的临床数据的回顾性分析.
- 将BRCA1/2变异分为致病性,意义不确定的,可能良性的和良性的类别.
主要成果:
- 在乳腺癌病例中检测到11种致病性BRCA1/2变体.
- 与非携带者相比,BRCA1/2病原性变体携带者表现出更高的组织学等级,增加了三阴性乳腺癌率,Ki-67增殖指数升高,无特殊类型癌症的发病率更高.
- 致病变体与高组织学等级,三阴性状态,高Ki-67指数和特定组织学类型有关.
结论:
- 患有乳腺癌的土耳其妇女的BRCA1/2致病变体与侵略性的临床病理特征有关.
- 需要对不同种群进行进一步的研究,以建立与BRCA变异的强有力的临床病理关系.
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