8. Cao W, Xie Y, He Y, et al. Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China. Breast Cancer Res Treat. 2019;175(3):749-754. doi:10...
9. Wang YA, et al. Germline breast cancer susceptibility gene mutations and breast cancer outcomes. BMC Cancer. 2018 Mar 22;18(1):315. 10. Goodwin PJ, et al. Breast cancer prognosis in BRCA1 and BRCA2 mutation c...
16 which included 5106A >G (Met1663Val),5208delT(Stop 1639) and 4956A>G (Ser 1613Gly).CONCLUSION These mutation sites may be related to breast cancer, but more investigation is needed to determine whether the mutation sites are hot spots of mutations in Chinese familial breast cancer ...
Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript ...
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...
Learning You Have the BRCA1 or BRCA2 Gene Mutation I didn’t find out I had the BRCA1 gene mutation until 2 weeks after I was diagnosed, one week after I had already had a double mastectomy. Even though my breast cancer was stage 1, it was also “triple negative,” or the most ag...
做了这么多的铺垫,终于到了我们的“正餐”——BRCA基因,BRCA基因是Breast Cancer Gene的简称,中文意为乳腺癌基因。 而在浩如烟海的人类基因之中,其发现人玛丽-克莱尔·金(Mary-ClaireKing)于1990年首次定位到了在第17号染色体上的BRCA1基因,不久之后人们又发现了位于13号染色体上的BRCA2基因。
[1] Kuchenbaecker, K. B., et al. (2017). Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.Jama. DOI:10.1001/jama.2017.7112 [2] Ransburgh, D. J., et al. (2010). Identification of breast tumor mutations in BRCA1 that abolish its functi...
Rutgers EJ, Russell NS, Smit V, Voogd AC, Koppert LB, Siesling S et al: Prognostic Impact of Breast-Conserving Therapy Versus Mastectomy of BRCA1/2 Mutation Carriers Compared With Noncarriers in a Consecutive Series of Young Breast Cancer Patients. Annals of surgery 2019, 270(2):364-372....
To test the idea, Park’s team first selected cell lines derived from non-cancerous human breast epithelial cells – where BRCA1 breast cancers originate. They then used an advanced gene-targeting technique to create new cell lines that have a typical cancer-linked BRCA1 mutation in only one...