This article will examine current knowledge about BRCA1 and BRCA2 genetic testing for ovarian cancer and follow the journey taken by women who are considering such testing. Genetic counselling and genetic testing will be critically evaluated and the implications for clinical practice, the individual ...
[2]Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-2416. doi:10.1001/jama.2017.7112 [3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA...
在携带致病性变异的样本中,4例同时存在同一基因VUS(2例为BRCA1,2例为BRCA2),4例同时存在另一基因VUS(2例为BRCA1致病性变异和BRCA2 VUS,2例为BRCA2致病性变异和BRCA1 VUS)。 图1 图2 在致病性变异中,69例(66.3%)为BRCA1变异,35例(33.7%)为BRCA2变异。小插入/缺失(indels)是最常见的DNA变异,占BRCA1...
[2]Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-2416. doi:10.1001/jama.2017.7112 [3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA...
BRCA1 和 BRCA2 之间胚系和体细胞变异的分布没有差异。有趣的是,在PARPi治疗下,仅体细胞变异(无胚系)的患者相比胚系变异的患者表现出更好的结局。确定BRCA1和BRCA2变异是遗传性还是获得性可为HGSOC患者改善管理策略和预测预后提供有价值的信息。 研究背景 高级别浆液性卵巢癌(HGSOC)是最普遍的卵巢癌类型,占...
PARPis已获得FDA批准用于治疗BRCA1或BRCA2变异(胚系和/或体细胞)的HGSOC患者,这些患者对一线铂类化疗有反应。根据多项研究,约16%-23%的HGSOC样本在诊断时存在BRCA1或BRCA2致病性变异。在遗传性乳腺癌和卵巢癌综合征患者中,大多数这些变异可以在胚系水平上检测到,但这些变异中近30%发生于肿瘤本身,只能在体细胞水...
[2]Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-2416. doi:10.1001/jama.2017.7112 [3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA...
brca2 基因致病突变携带者首次诊断乳腺癌后10年累积对侧乳腺癌发病风险分别为15.5%和17.5%,是非突变携带者的4~5倍 [ 6 ] . 目前,比较散发性异时性双乳癌(metachronous bilateral breast cancer, mbbc)的首发癌和对侧癌临床病理参...
In the ten years since the discovery of BRCA1 and BRCA2, genetic testing for breast and ovarian cancer susceptibility has become integrated into the practice of clinical oncology. Attempts to identify a third breast cancer susceptibility locus (BRCA3) have so far been unsuccessful. This is probab...
而对于乳腺癌患者,从目前的研究中尚不能得到一致的结论,因此BRCA1/2基因状态是否与乳腺癌患者预后直接相关仍需要更多的研究证据来明确。 参考文献: 1. Friedenson B. (2007). “The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cance...