[3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis. Prostate. 2019;79(8):880-895. doi:10.1002/pros.23795 [4]Hu C, Hart SN, Polley EC, et al. Association Between Inherited Ge...
通过分析14种癌症患者携带BRCA1/BRCA2致病性突变的频率,研究团队发现,男性乳腺癌患者携带BRCA2致病性突变的频率较高(18.9%);卵巢癌患者携带致病性突变的频率次之,其中4.86%存在BRCA1致病性突变,3.42%存在BRCA2致病性突变。 此外,还有6种癌症类型患者携带致病性突变的频率超过1%,其中2种携带BRCA1致病性突变,4种携带BRCA2...
[3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis. Prostate. 2019;79(8):880-895. doi:10.1002/pros.23795 [4]Hu C, Hart SN, Polley EC, et al. Association Between Inherited Ge...
BRCA1 and BRCA2 mutations have been identified in 107 families in Scotland and Northern Ireland. Ninety-seven of these families had been referred to regional cancer genetics centres and a further 10 were identified from a sequential series of male breast cancers treated in Edinburgh. Fifty-nine ...
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
乳腺癌女性BRCA1/2检测的种族差异、医师建议与诊疗差距 焦磷酸测序定量BRCA1启动子甲基化水平可作为乳腺癌患者生存预后因素 BRCA1和BRCA2阴性家族性乳腺癌患者的临床病理特征及与新辅助化疗疗效的关系 除了BRCA,还有什么基因突变可以引起乳腺癌遗传倾向? BRCA突变女性的乳腺癌、卵巢癌、对侧乳腺癌风险 ...
在这项研究中,奥拉帕利对携带ATM或CHEK2突变的癌症无临床活性。在BRCA1/2突变癌症中,奥拉帕利可具有活性,并在各种癌症类型中产生持久缓解。 参考文献: Joris, S et al. “Efficacy of olaparib in advanced cancers with germline or somatic mutations in BRCA1, BRCA2, CHEK2 and ATM, a Belgian Precision tu...
mutations inBRCA2are associated with superior response compared to those inBRCA1. Mutations inBRCA1andBRCA2result in distinct mutational landscapes and differentially modulate the tumor-immune microenvironment, with gene expression programs related to both adaptive and innate immunity enriched inBRCA2-...
结论:中国BRCA1突变阳性乳腺癌更多为三阴性乳腺癌,具有CK5/6和EGFR的阳性率更高等特点,并且BRCA1和BRCA2突变阳性乳腺癌中HER2受体阳性率也更低。 [关键词] BRCA1基因;BRCA2基因;乳腺癌;病理学 [Abstract]Background and purpose...
(p.Ser1722Tyrfs*4) variant was common among theBRCA2mutations, accounting for 17.5% (7/40). It was observed that a higher proportion ofBRCA1carriers had the triple-negative breast cancer subtype, whereas moreBRCA2carriers exhibited estrogen receptor (ER) + and progesterone receptor (PR)...