BRCA suppressor genesBreast cancer susceptibilityDisease progressionER signalingMicroRNAsP53BRCA1 and BRCA2 are breast cancer susceptibility genes. Familial breast/ovarian cancers arise from germ line mutation i
Social, ethical and legal considerations raised by the discovery and patenting of the BRCA1 and BRCA2. N Genet Soc. 2014;33(2):167-80.Joly Y, Tonin PN. Social, ethical and legal considerations raised by the discovery and patenting of the BRCA1 and BRCA2 genes. New Genetics & Society ...
Mutations of the BRCA1 and BRCA2 genes and the possibilities for predictive testing. Simon A,Gayther,Bruce A. Molecular Medicine . 1997Simon A,Gayther,Bruce A.Mutations of the BRCA1 and BRCA2 genes and the possibilities for predictive testing.Molecular Medicine. 1997...
2014; 13(2):205-11.Cho JY, Cho DY, Ahn SH, Choi SY, Shin I, Park HG, Lee JW, Kim HJ, Yu JH, Ko BS, Ku BK, Son BH: Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea. Fam Cancer 2014, 13 (2) : 205-211. PubMed Abstract...
Risk can be influenced by allelic heterogeneity, modifier genes, and environmental and hormonal cofactors. Abstract 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 ...
△gBRCA1或gBRCA2相关多因素分析[7] 结论 对于HR+患者,尤其是以下高危人群,BRCA检测具有明确必要性: 年龄≤40岁的年轻患者; 肿瘤分期较晚 (T3/T4) 或高Ki-67指数; Luminal B (HER2-) 亚型; 其它遗传高危特征,如乳腺癌家族史或双侧乳腺癌病史等; ...
In silico predictions of missense variants is an important consideration when interpreting variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes. We trained and evaluated hundreds of machine learning algorithms based on results from valid
Mutations in these two genes attribute to approximately 5% of the total of breast cancers. We wanted to determine the uptake of presymptomatic. BRCA1/2 DNA testing (PST) in families in which a mutation was known. In addition we analysed the chosen preventive interventions and the incidence of...
The mutations in these high-penetrance genes confer a high life-time risk of breast and ovarian cancer. Women with an inheritedBRCA1mutation have a lifetime risk of 65–80% of developing breast cancer and 37–62% of developing ovarian cancer, whileBRCA2mutation carriers have a lifetime risk...
Pathogenic variants in theBRCA1andBRCA2genes are linked to an increased risk for female breast and ovarian cancer (including early-onset breast cancer), male breast cancer, prostate cancer, pancreatic cancer, and certain other cancers1. These variants are highly penetrant: Women with a variant hav...