1. Liming Su, et al. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers in a large cohort of unselected Chinese breast cancer patients. Int. J. Cancer, 2020, 146: 3335-3342. 2. Yadav S,Hu C,Hart SN,et al.Evalu...
Despite the increasing demand for genetic testing arising from the patients and their relatives, the genetic testing can be offered yet only to individuals belonging to high-risk families in which the probability that there is a germline mutation in a BRCA gene is high and thus cancer occurrence...
2. Liede A, Narod S A:Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 2002; 20: 413-424. 3. US Preventive Services Task Force, Owens DK, Davidson KW, et al. Risk assessment, genetic counseling, and genetic test...
8 A positive test result may also prompt consideration of BRCA1/2 testing among at-risk relatives of the patient with cancer, so that those testing positive can benefit from more aggressive prevention and screening.3 Despite advances in testing criteria and knowledge about treatment strategies for ...
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...
The discovery of the first gene associated with hereditary breast cancer, BRCA1, was anticipated to greatly increase our understanding of both hereditary and sporadic forms of breast cancer, and to lead to therapeutic and preventive breakthroughs. Much has been learned during the past decade about ...
doi:info:doi/10.1111/j.1445-2197.2007.04114_19.xFirgaira, F.ANZ Journal of Surgery
testing results and may initiate behavioral and lifestyle changes. The patients with a BRCA1/2 mutation desire knowledge with regard to genetic aspects in mainland China. Professional information and advice can be provided to relieve the patients' negative emotions when they were informed of gene ...
BRCA基因,全称“乳腺癌易感基因”(Breast Cancer Gene),包括两个基因:BRCA1和BRCA2,分别位于人类染色体17q21上和13q12上,是与卵巢癌和乳腺癌发生密切相关的抑癌基因,就像体内细胞的“修理工”,能生产肿瘤抑制蛋白,专门负责修复损伤的双链DNA,细胞周期调控等,并及时修复“生病”的细胞,避免其进一步发展为肿瘤细胞。
[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 inBRCAgenes (includingBRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population basedBRCAgene ...