近日，一组来自波兰的研究团队在杂志Scientific reports上发表了一篇题为“New, fast and cheap prediction tests for BRCA1 gene mutations identifcation in clinical samples”的文章。这项工作开发了使用表面等离子体共振（SPR）或耗散型石英晶体微天平（QCM-D）检测，基于DNA杂交来简单、快速地识别BRCA1突变。作者...
Mutations in the BRCA1 gene
[6] Menghi, F. et al. The tandem duplicator phenotype is a prevalent genome-wide cancer configuration driven by distinct gene mutations. Cancer Cell 34, 197-210.e5 (2018). [7] Anzalone, A. V., Koblan, L. W. & Liu, D. R. Genome editing with CRISPR-Cas nucleases, base editors,...
[44] Solinas C, Marcoux D, Garaud S, et al. BRCA gene mutations do not shape the extent and organization of tumor infiltrating lymphocytes in triple negative breast cancer[J]. Cancer Lett, 2019, 450:88-97. doi...
In fact, though my mother had previously done genetic testing twice, it had always come back as a “variant of unspecified significance,” or a “VUS,” meaning they couldn’t say whether my mom’s genes were part of the BRCA mutations or not. ...
2 germline mutations who receive radiotherapy after surgery may not increase the risk of developing a second primary tumor. [Key words]Breast cancer;BRCA1;BRCA2; Radiotherapy; Second primary cancer 乳腺癌如今已超越肺癌成为全球发...
and recombination. Mutations in the BRCA1 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 alternat...
导读:BRCA1/2基因是抑制肿瘤发生的抑癌基因。当BRCA1/2发生基因突变后,其抑制肿瘤发生的功能受到影响,导致基因功能缺陷,从而诱发一系列的癌症,其中最主要的就是遗传性乳腺癌及卵巢癌。已发现的BRCA1基因变异有数千种,但许多都被列为“意义未明的变异”,给患癌风险评估带来了巨大挑战。近日,美国华盛顿大学的研究人员...
乳腺癌易感基因(breastcancer susceptibility gene,BRCA)包括BRCA1和BRCA2,是重要的抑癌基因,其编码产物参与DNA损伤同源性重组修复。BRCA1/2其实“人性本善”,它们是抑制肿瘤生长的基因,由BRCA1/2编码产生的蛋白,可以帮助人体修复损伤的DNA,从而保证细胞遗传物质的稳定性。当受到某种刺激后,BRCA1/2出现功能失常,也就...
Mutations resulting in stop codons in the BRCA1 gene are described. All of these mutations result in the formation of a truncated BRCA1 protein. Methods for identifying a sequence variation in a BRCA1 polynucleotide sequence are disclosed. The identification process includes allele specific sequence-...