乳腺癌易感基因(breast cancer susceptibility gene, BRCA)与乳腺癌有着密不可分的关系。BRCA基因的两个成员,即BRCA1和2,分别是在1990年和1994年被分离。 乳腺癌可以分为遗传性乳腺癌和散发性乳腺癌(sporadic breast cancer),散发性乳腺癌指的是没有发现明确的遗传基因改变(完整的癌变点)与乳腺癌家族史的乳腺癌...
1.第一项研究是一项meta分析,关于BRCA突变对乳腺癌预后影响的研究有很多,结果也不完全一致,我选择这项研究的原因有两个:第一个是这项研究的发表日期是2021年;第二个是研究发表在Breast cancer research and treatment这个杂志上,是乳腺癌领域的老牌杂志。 (Liu M, Xie F, Liu M, et al. Association between ...
谈起BRCA1和BRCA2基因(Breast Cancer Susceptibility)相信大家都有所了解,这是早在20世纪初就被证实直接与遗传性乳腺癌有关的基因,拥有该突变的人群患乳腺癌的概率更高。 后续,让这两个基因与乳腺癌的关联更为人所知的,应该是好莱坞红星安吉丽娜﹒朱莉,她因为家族乳腺癌病史、自身BRCA1基因突变,接受了预防性的双侧...
英文标题:Association between risk-reducing surgeries and survival in young BRCA carriers with breast cancer: results from an international cohort study 中文标题:携带 BRCA 突变的年轻乳腺癌患者接受降低风险手术与预后的关系:一项国际队列研究的结果 讲者:Matteo Lambertini,University of Genova,Genova,Italy 研究...
BRCA1/2突变有数百种,主要与遗传性乳腺癌和卵巢癌有关。研究表明,5%~10%的乳腺癌患者具有明确的遗传基因突变,称之为遗传性乳腺癌(hereditary breast cancer,HBC),其中BRCA1基因突变占30-35%,BRCA2基因突变占20-25%。 携带BRCA1/2基因突变的女性不仅...
[1] Rachel Joyce et al., (2024) Identification of aberrant luminal progenitors and mTORC1 as a potential breast cancer prevention target in BRCA2 mutation carriers. Nature Cell Biology Doi: https://doi.org/10.1038/s41556-023-01315-5
Loss of BRCA1 p220 function often results in basal-like breast cancer (BLBC), but the underlying disease mechanism is largely opaque. In mammary epithelial cells (MECs), BRCA1 interacts with multiple proteins, including NUMB and HES1, to form complexes that participate in interstrand crosslink ...
【For those with triple negative recurrent/stage IV breast cancer and germline BRCA1/2 mutations, the NCCN Panel has included platinum agents (cisplatin and carboplatin) as preferred treatment options.】在这种情况下,PARP...
FREDGILBERT, MARY KAYDABNEY, KARENDIEMER, SAMANTHALUDWIG, GLADYSROSENTHAL, MICHAEL P.OSBORNE. (1997) BRCA1/BRCA2 Mutations and Breast Cancer in Ashkenazi Jewish Women. Annals of the New York Academy of Sciences 833 :10.1111/nyas.1997.833.issue-1, 198-203 /...
[5]Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91(15):1310-1316. doi:10.1093/jnci/91.15.1310 [6]Johannsson O, Loman N, Möller T, Kristoffersson U, Borg A, Olsson H. Incidence of malignant tumours in relatives of BRCA1 and BRCA...