首页 / 癌基因 / BRCA1 / MUTATIONBRCA1(BRCA1, DNA repair associated) 该基因编码一种在维持基因组稳定性中起作用的核磷蛋白,并作为肿瘤抑制因子发挥作用。编码蛋白与其他肿瘤抑制因子、DNA损伤传感器和信号转导子结合形成一个大的多亚单位蛋白复合物,称为BRCA1相关基因组监测复合物(BASC)。该基因产物与RNA聚合...
BRCA1 is one of two genes, that when mutated confers a high risk of breast and ovarian cancer. Previous research has shown that BRCA1 is involved in DNA repair, but it has been unclear why women with this gene mutation have such a high risk of breast cancer, up to 85 percent lifetime...
(Kuchenbaecker K B, Hopper J L, Barnes D R, et al. Risks ofbreast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers[J]. Jama, 2017, 317(23): 2402-2416.) 在这9856名女性中,有4810名女性在登记的时候已经发生了乳腺癌和/或卵巢癌,同时有一部分女性进行了预防性...
breast cancer, BRCA1 gene, gene mutation, single stranded conformation polymorphismOBJECTIVE To investigate the frequency of BRCA1 gene mutations in breast cancer families in China.METHODS Genomic DNA was obtained by conventional techniques from the peripheral blood mononuclear cells collected from 94 pers...
1.认识你的基因:BRCA1和乳腺癌 2.Breast cancer gene does not boost risk of death: study 3.Breast cancer in young women: do BRCA1 or BRCA2 mutations matter? 4.Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study...
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...
BRCA基因,全称“乳腺癌易感基因”(Breast Cancer Gene),包括两个基因:BRCA1和BRCA2,分别位于人类染色体17q21上和13q12上,是与卵巢癌和乳腺癌发生密切相关的抑癌基因,就像体内细胞的“修理工”,能生产肿瘤抑制蛋白,专门负责修复损伤的双链DNA,细胞周期调控等,并及时修复“生病”的细胞,避免其进一步发展为肿瘤细胞。
The risk of harboring a mutation was not limited to women with family histories of breast or ovarian cancer. These results represent a minimal estimate of the frequency of BRCA1 mutations in this population. Comprehensive methods of identifying BRCA1 mutations and understanding their importance will ...
BRCA1 was screened by PCR-direct sequencing in 56 TNBC patients (26 with a family history of breast cancer and 30 sporadic cases) including all exons where a mutation was previously found in Algerian population (exons 2, 3, 5, ... F Cherbal,H Gaceb,C Mehemmai,... - 《Cancer Researc...
Myers SP, Sevilimedu V, Barrio AV, Tadros AB, Mamtani A, Robson ME, Morrow M, Lee MK. Pathologic complete response after neoadjuvant systemic therapy for breast cancer in BRCA mutation carriers and noncarriers. NPJ Breast Cancer. 2024 Jul 26;10(1):63. doi: 10.1038/s41523-024-00674-y...