PARP inhibitors for BRCA wild type ovarian cancer; gene alterations, homologous recombination deficiency and combination therapy[J]. Jap J Clin Oncol, 2019;49(8):703-707. DOI:10.1093/jjco/hyz090. [5] Garcia-Sampedro A, Gaggia G, Ney A, et al. The State-of-the-Art of phase Ⅱ/Ⅲ ...
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先看下目前BRCA2胚系突变与遗传性肿瘤发病风险的数据(引自权威数据库NCBI-GeneReviews®):相比BRCA2基因野生型人群,携带BRCA2致病性突变的人群罹患卵巢癌、乳腺癌、前列腺癌及胰腺癌的风险大大升高[7]。例如,BRCA2胚系突变的女性人群...
Cancer predisposing BARD1 mutations in breast-ovarian cancer families The breast cancer susceptibility gene BARD1 (BRCA1-associated RING domain protein, MIM# 601593) acts with BRCA1 in DNA double-strand break (DSB) repair and... M Ratajska,E Antoszewska,A Piskorz,... - 《Breast Cancer Resea...
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BRCA gene, Breast cancer, Hakka population, Ovarian cancer, Variants. 基因检测临床研究与应用结果介绍: 目的:调查中国客家人乳腺癌和卵巢癌患者BRCA1和BRCA2突变的流行情况和谱。方法:共招募1664例乳腺癌或卵巢癌患者在我院进行基因检测。通过二代测序基因检测分析BRCA基因的种系突变,包括编码区和外显子内含子边...
A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2. Nat Genet. 1997;15(1):14-5.Ramus SJ, Friedman LS, Gayther SA et al: A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2 [letter]. Genet 1997; 15: 14-15....
BACKGROUND: Mutations in the BRCA1 and BRCA2 genes are found in most families with cases of both breast and ovarian cancer or with many cases of early-onset breast cancer. However, in an outbred population, the prevalence of BRCA1 and BRCA2 mutations in patients with breast cancer who were...
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