Mutation carriers, non‐carriers, and individuals of unknown mutation status were compared to determine the impact of test results. Utilization of genetic testing for both men and women are reported and, for women, mammography, breast self‐exam, clinical breast exam, mastectomy, oophorectomy, ...
of a viable individual with two mutated copies of the brca1 gene [8], although screening of lymphocyte DNA from patients in Scotland with breast or ovarian cancer revealed a woman who lacked the wild-type allele for brca1, and was the offspring of two carriers of the brca1 mutation [9]...
Mutation of Breast Cancer Susceptibility Gene in Ovarian Cancer and Its Clinical Significance Shi Huirong*, You Zongbing, Guo Yanyan.*The First Affiliated Hospital of Henan Medical University, Zhengzhou 450052 450052 【Abstract】 Objective To detect breast cancer susceptibility gene (BRCA1) mutation in...
关键词:BRCA1基因;BRCA2基因;乳腺肿瘤;遗传变异中图分类号:R737.9文献标识码:A文章编号:1009—5551(2013)l01442—05StudyonmutationtestofBRCA1/2geneofhereditarybreastcancerinXinjiangWuTao,OuJianghua,HamratWufuer,XuWenting,ChenLing,NiDuo(DepartmentofBreastSurgery,AffiliatedTumourHospital,XinjiangMedicalUniversity,...
(PCR)Single-strandconformationalpolymorphism(SSCP)wasusedtotestthemutationofexo2and20ofbrCA1.Results:Nomutatiowerefoundinexo2and20.Conclusion:185delAGand5382iCwhichwerefoundtobehighmutationsitesinAshkenaziJewishwomenarenothighonesinChina.Itisindicatedthatgenesequenceofwhatwehavestudieddoesn'taccountmuchfor...
The identification process includes allele specific sequence-based assays of known sequence variations. The methods can be used for efficient, and accurate detection of a mutation in a test BRCA1 gene sample for diagnostic and therapeutic purposes. 收藏 引用 批量引用 报错 分享 ...
with gene expression programs related to both adaptive and innate immunity enriched inBRCA2-deficient tumors. Single-cell RNA sequencing further revealed distinct T-cell, natural killer, macrophage and dendritic cell populations enriched inBRCA2-deficient tumors. Taken together, our findings reveal the ...
探讨人表皮生长因子受体2(human epidermal growth factor receptor 2,HER2)和乳腺癌易感基因1(breast cancer susceptibility gene 1,BRCA1)在乳腺癌患者中的表达,并研究两者的表达与放疗敏感性的相关性,以期为临床治疗提供依据。方法:回顾并分...
BRCA1 2基因检测报告
A total of 409 breast cancer patients were analyzed based on next-generation sequencing results, with 337 categorized as non-carriers and 72 as carriers ofBRCA1/2variants. Data on the patients’BRCA1/2gene mutation status, clinical and pathological characteristics, as well as menstrual and reprodu...