2018年开展的Ⅱ期、单臂、非盲临床试验NEOTALA探索了PARP抑制剂单药他拉唑帕尼用于BRCA1/2胚系突变且HER2阴性早期乳腺癌的新辅助治疗效果,该研究中期入组20例患者(14例BRCA1和4例BRCA2),其中包括15例三阴性和5例激素受体阳性患者,...
BRCA(BReast CAncer susceptibility gene;乳腺癌易感基因)是重要的抑癌基因与肿瘤易感基因,包括BRCA1及BRCA2。BRCA基因突变会导致基因组不稳定性显著增加,从而显著提高女性罹患乳腺癌、卵巢癌以及其他癌症(如:胰腺癌、子宫内膜癌、腹膜癌及宫颈癌等[1-4])的风险。 BRCA基因突变大大增加普通人群患癌风险 BRCA基因突变...
BRCA(BReast CAncer susceptibility gene;乳腺癌易感基因)是重要的抑癌基因与肿瘤易感基因,包括BRCA1及BRCA2。BRCA基因突变会导致基因组不稳定性显著增加,从而显著提高女性罹患乳腺癌、卵巢癌以及其他癌症(如:胰腺癌、子宫内膜癌、腹膜癌及宫颈癌等[1-4])的风险。 BRCA基因突变大大增加普通人群患癌风险 BRCA基因突变...
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...
Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis. Cancer 2012; 118: 2021-2030.Lowry KP, Lee JM, Kong CY, McMahon PM, Gilmore ME, Cott Chubiz JE, Gazelle GS. Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a...
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...
To compare the performance characteristics of a web-based BRCA1/BRCA2 gene mutation prediction model: the PENNII model ( www.afcri.upenn.edu/itacc/penn2 ), with studies done previously at our institution using four other models including LAMBDA, BRCAPRO, modified PENNI (Couch) tables, and ...
Prediction of carrying a BRCA1 or BRCA2 mutation doi:10.21037/atm-23-162Breast cancerBRCA1BRCA2AsianAnnals of Translational MedicineKyung-Hun Lee
A. Comparison of prophylactic oophorectomy specimens from carriers and noncarriers of a BRCA1 or BRCA2 gene mutation. United Kingdom Coordinating Committee on Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group. J. Natl Cancer Inst. 91, 626–628 (1999). CAS PubMed Google Scholar ...
Approximately 4% of unaffected, reproductive age women have a significant family history for heritable breast or ovarian cancer. While, BRCA1 and BRCA2 (BRCA) mutation analysis may prove useful in the clinical management of such individuals, such testing is prohibitively expensive. We have developed...