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...
[36] Litton JK, Beck JT, Jones JM, et al. Neoadjuvant talazoparib in patients with germline BRCA1/2 (gBRCA1/2) mutation-positive, early HER2-negative breast cancer (BC): Results of a phase 2 study[J]. J C...
However, it has been found that germline BRCA2-mutated BC are often associated with copy number loss of the Rb1 gene, leading to CDK4/6 inhibitors resistance [12]. Therefore, the optimal therapy strategy for ER-positive, BRCA2-mutated BC is currently unclear. In addition, the BRCA2 ...
The aim of this study was to conduct an in silico analysis of a novel compound heterozygous variant in breast cancer susceptibility gene 2 (BRCA2) to clarify its structure–function relationship and elucidate the molecular mechanisms underlying triple-negative breast cancer (TNBC). Methods A tumor ...
The aim of the study was to investigate this mutation in Icelandic prostate cancer patients related to BRCA2 positive breast cancer probands and to estimate the prevalence of this mutation in unselected prostate cancer patients. To examine the potential role of this mutation in prostate cancer we ...
According to this study, there was statistically significant negative correlation between frequency BRCA2 gene mutations and female age, there was negative correlation between BRCA2 gene mutations and ER receptor, PR receptor and HER2/neu status (positivity and negativity) and positive correlation ...
Tamoxifenis a drug that binds to estrogen receptors and blocks their effects in the breasts. For this reason, tamoxifen is used for both the treatment and prevention of estrogen receptor-positive breast tumors. Multiple studies have associated the use of tamoxifen and similar drugs with a reduced...
1例BRCA2p.Arg2842Cys变异,突变丰度为10.01%。基因检测报告中定义为临床意义尚不明确的变异,尚无相关临床证据。 BRCA2 p.Arg2842Cys变异在clinvar数据库中,该变异clinvar数据库中有12条证据,有2条证据是指向可能良性,1条指向致病,7条指向临床意义未明。
Identification of the breast cancer susceptibility gene BRCA2[J]. Nature,1995, 378(6559): 789-792. 4.VON MINCKWITZ G et al.Neoadjuvant carboplatin in patients with triple-negative and HER-2-positive early breast cancer (GeparSixto; GBG66):a randomised phase 2 trial[J]. Lancet Oncol, ...
2E. SNP haplotype analysis (Fig. 4) shows the common haplotypes for the carriers of BRCA2 IVS7 ϩ 2T Æ G whose entire BRCA2 gene was sequenced, and the corre- sponding haplotype pairs. Within the patient database at Myriad Genetic Laboratories, two additional patients were positive for...