2) mutant BRCA2 突变型BRCA2 1. Objective To investigate the expression of mutant BRCA2 gene in human breast cancer tissue and its clinic-healing significance. 目的研究突变型BRCA2在人类乳腺癌组织中的表达及其临床康复意义。3) BRCA2 gene BRCA2基因 1. BRCA1 and BRCA2 gene mutations of ...
[Abstract]Germline mutations inBRCAgenes (includingBRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population basedBRCAgene screening, particularly in high-risk individuals with a family history...
The eight mutations were small deletions with the exception of a single nonsense mutation, an all were predicted to interrupt the BRCA2 coding sequence and to lead to a truncated protein product. Other factors which predicted the presence of a BRCA2 mutation included a case of breast cancer ...
testing in the population, including screening scenarios, technical approaches, quality control, result interpretation and reporting, as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-based BRCA germline mutation screening in China...
Learning You Have the BRCA1 or BRCA2 Gene Mutation I didn’t find out I had the BRCA1 gene mutation until 2 weeks after I was diagnosed, one week after I had already had a double mastectomy. Even though my breast cancer was stage 1, it was also “triple negative,” or the most ag...
Thus, the genomic instability arising due to the lowering in the levels of Brca1 and Brca2 proteins and mutation in exon 11 of Brca1 gene contributed to the increased risk of cancer in mice exposed transgenerationally to AEBN. Introduction Areca nut, also known as betel nut (BN), forms ...
Approximately 10% of all BC cases are heritable and caused by a germline DNA damage response gene mutation, mainly of the BRCA1 or the BRCA2 genes. Both genes (BRCA1/2) encode important tumor suppressors involved in the DNA double-strand break (DSB) reparation by homologous recombination [2...
Also Known As: BRCA1 and BRCA2 Testing, BRCA1/2 Testing, Breast Cancer Susceptibility Genes 1 & 2 Testing, Germline BRCA Testing Board Approved Test Quick Guide BRCA gene mutation testing shows whether you have inherited mutations, also called variants, in your BRCA1 or BRCA2 genes. It is...
[关键词]专家共识;BRCA1;BRCA2;同源重组;突变筛查;二代测序;胚系突变 [Abstract]Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a...
[关键词]乳腺癌;BRCA1;BRCA2;放疗;第二原发肿瘤 [Abstract] Background and purpose:BRCA1/2 plays an important role in maintaining the genome stability. WhetherBRCA1/2 germline mutation could increase the tumor sensitivity to ra...