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...
图4. BRCA1/2胚系突变与癌症的发生风险(NCBI, GeneReviews®) 日本一项大型研究对14种常见癌症类型共63828例患者和37086例对照进行了大规模测序[8],探索了BRCA1/2基因突变与肿瘤发生的关系,发现BRCA2胚系致病性突变与至少7种癌症...
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 between gene mutations and the ...
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...
in index Fanconi case at age 10 (ii) Couch assay of 0.987 (all positive controls were p>0.99) (iii) BRCA2 ubiquitination function intermediate (iii) lack of family history in large pedigree for UK Fanconi case.但是没有具体的文献的引用证据。
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...
BRCA1/2突变乳腺癌临床诊治新进展—机遇和挑战 万琪婷, 孙洁, 胡丽, 解云涛 (北京大学肿瘤医院) 摘要 BRCA1/2胚系突乳腺癌具有特殊的发病机制及临床病理特征,其临床决策有别于散发性乳腺癌。随着基因测序技术的发展,越来越多的BRCA...
Detection of false positive mutations in BRCA gene by next generation sequencing[J]. Fam Cancer,2017,16(3):311-317. [8] KOZAREWA I,NING Z,QUAIL M A,et al. Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of(G+C)-biased genomes[J]. Nat ...
ER-positive/PR-negative br... Cui,X. - 《Journal of Clinical Oncology Official Journal of the American Society of Clinical Oncology》 被引量: 655发表: 2005年 P53 tumor suppressor gene mutations in hepatocellular carcinoma patients in India. Background: Specific mutations of the p53 tumor ...
Low testing rates and high BRCA prevalence: Poly (ADP-ribose) polymerase inhibitor use in Middle East BRCA/homologous recombination deficiency-positive can... BACKGROUND Poly(ADP-ribose)polymerase inhibitors(PARPis)are approved as first-line therapies for breast cancer gene(BRCA)-positive,human epider...