在携带致病性变异的样本中,4例同时存在同一基因VUS(2例为BRCA1,2例为BRCA2),4例同时存在另一基因VUS(2例为BRCA1致病性变异和BRCA2 VUS,2例为BRCA2致病性变异和BRCA1 VUS)。 图1 图2 在致病性变异中,69例(66.3%)为BRCA1变异,35例(33.7%)为BRCA2变异。小插入/缺失(indels)是最常见的DNA变异,占BRCA1...
在携带致病性变异的样本中,4例同时存在同一基因VUS(2例为BRCA1,2例为BRCA2),4例同时存在另一基因VUS(2例为BRCA1致病性变异和BRCA2 VUS,2例为BRCA2致病性变异和BRCA1 VUS)。 图1 图2 在致病性变异中,69例(66.3%)为BRCA1变异,35例(33.7%)为BRCA2变异。小插入/缺失(indels)是最常见的DNA变异,占BRCA1...
The majority of these hereditary cases are thought to be caused by germline mutations in BRCA1 and BRCA2 cancer susceptibility genes (Antoniou et al. 2000, Berchuk et al. 1999). This article will examine current knowledge about BRCA1 and BRCA2 genetic testing for ovarian cancer and follow ...
小插入/缺失(indels)是最常见的DNA变异,占BRCA1变异的68.1%和BRCA2变异的74.3%。BRCA1 和 BRCA2 剪接变异各有 3 例患者检出,而错义变异仅见于 BRCA1,有 4 例样本检出,其中 1 个变异破坏了翻译起始密码子(图 2B)。此外,这些变异中包含移码或无义变异,诱导过早终止密码子的出现,在BRCA1和BRCA2变异中分别占...
一、BRCA1和BRCA2是什么? 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DN...
一、BRCA1和BRCA2是什么? 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...
ARTICLE Timing of BRCA1/BRCA2 genetic testing in women with ovarian cancer Molly S. Daniels, MS1, Diana L. Urbauer, MS2, Jennifer L. Stanley, BS1, Kristin G. Johnson, BSN3, and Karen H. Lu, MD1 Purpose: To determine when, in reference to the course of their treatment, women with...
For germ line BRCA2 mutations, the breast cancer cumulative risk approaches 50%, whereas for ovarian cancers, it is between 10 and 15%. Both BRCA1 and BRCA2 are involved in maintaining genome integrity at least in part by engaging in DNA repair, cell cycle checkpoint control and even the ...
Mutations in BRCA1 and BRCA2 are associated with better survival in ovarian cancer (OC) patients due to a better response to platinum-based chemotherapy. However, the impact of the BRCA1/2 mRNA-expression is not well characterized in OC. We investigated
Among women with serous ovarian cancers, 27.4% of women who were BRCA1 mutation carriers, 27.7% of women who were BRCA2 carriers, and 27.1% of women who were noncarriers were alive at 12 years past diagnosis. Conclusion For women with invasive ovarian cancer, the short-term survival ...