Methods The authors describe a case of a 59-year-old woman with Breast Cancer gene (BRCA) 2-positive ovarian cancer who developed progressive myelopathy from a T10 to T11 intramedullary metastatic lesion. Results The patient underwent a standard open T10鈥揟11 laminectomy for intramedullary tumor...
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 ...
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...
Generally ER and PR positive ▸ Negative for HER2/neu overexpression/gene amplification Differential Diagnosis ▸ NA View chapter Chapter Familial Breast Cancer Breast Pathology (Second Edition) Book2011, Breast Pathology (Second Edition) Anita Bane, ... Frances P O’Malley Explore book Introduction...
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。
Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history BRCA1 and BRCA2 are the two principal hereditary breast cancer susceptibility genes, and the prevalence of their mutations among Brazilian women is unknown. The objective was to detect BRCA1 and ...
Germline mutations in the tumour suppressor genes breast cancer antigen gene (BRCA)1 and BRCA2 have been proven to portend a drastically increased lifetime... JB Greer,DC Whitcomb - Gut 被引量: 145发表: 2007年 Psychosocial issues following a positive result of genetic testing for BRCA1 and ...
In the context of a known familial mutation, both positive and negative predictive genetic test results are interpretable and informative. Given the high risks of breast and ovarian cancer that are associated with BRCA1 and BRCA2, and the availability of proven risk reduc- tion strategies, the ...
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...
The positive rates of BRCA1 and BRCA2 were lower in breast cancer tissues than in cancer adjacent tissues and adenosis tissues,with a significant difference(P0.05). The gene BRCA1/BRCA2 was negatively correlated with lymph node metastasis, and negatively correlated with the expression of estrogen...