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...
乳腺癌易感基因(breast cancer susceptibility gene)BRCA包括BRCA1和BRCA2,是重要的抑癌基因,其编码产物参与DNA损伤中的同源重组修复,致病性BRCA1/2基因突变会导致同源重组缺陷(HRD),使基因组不稳定性显著增加[3]。 了解BRCA基因突变状态,有助于做好高风险人群的遗传咨询管理,包括制定筛查方案、评估家属遗传风险等。
[8] Pierce LJ, Levin AM, Rebbeck TR, et al. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage Ⅰ/Ⅱ breast cancer[J]. J Clin Oncol, 2006, 24(16):243...
One hundred and sixty-four patients with BRCA1-associated breast cancer and 109 patients with BRCA2-associated breast cancer were identified. Among patients with BRCA1-associated cancers, 86 (52%) had mutations in the 5' half of the gene. Among patients with BRCA2-associated breast cancers, ...
12. P.D. Shah, S. Patil, M.N. Dickler, K. Offit, C.A. Hudis, M.E. Robson. Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: differences based on germline mutation status. Cance...
The Cell of Origin of BRCA1 Mutation-associated Breast Cancer:A Cautionary Tale of Gene Expression Pro filing. Molyneux G,Smalley MJ. Journal of Mammary Gland Biology and Neoplasia . 2011Molyneux G,Smalley MJ.The Cell of Origin of BRCA1 Mutation-associated Breast Cancer:A Cautionary Tale of ...
Abstract C102: Identify novel pathways conferring PARP inhibitor resistance in BRCA-associated breast and ovarian cancer. Inhibitors of poly(ADP-ribose) polymerase (PARP) enzymes hold great promise in treating BRCA1/2 associated breast and ovarian cancers, which have profound homologous recombination (...
The discovery of the first gene associated with hereditary breast cancer, BRCA1, was anticipated to greatly increase our understanding of both hereditary a... SA Narod,WD Foulkes - PubMed 被引量: 402发表: 2004年 BRCA1 gene in breast cancer hereditary breast cancers, these mutations account for...
Upregulation of BRCA1 and 2 protein expression is associated with dysregulation in amino acids profiles in breast cancer Tahia H. Saleem Mohamed A. Rizk Eman Radwan Molecular Biology Reports(2024) Identification of aberrant luminal progenitors and mTORC1 as a potential breast cancer prevention target...
Ladanyi M, Hyman DM, Solit DB, Robson ME, Taylor BS, Offit K, Berger MF, Stadler ZK: Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019, 37(4):286-295. ...