A cost-effectiveness evaluation of germline BRCA1 and BRCA2 testing in UK women with ovarian cancer. Value Health 2017;20:567e576.Eccleston A, Bentley A, Dyer M, et al. A cost-effectiveness evaluation of germline BRCA1 and BRCA2 testing in UK women with ovarian cancer. Value Health 2017;...
The heterogeneity between the published estimates was high (BRCA1:I2 = 30%,BRCA2:I2 = 83%); this could partly be explained by selection for age, family history or aggressive disease, and study-level differences in ethnicity composition, use of historical controls, and location of P...
Male carriers may be at increased risk of breast and prostate cancers. Relatively little is known about at-risk men’s decision-making about BRCA1/2 testing. This qualitative study explores the influences on male patients’ genetic test decisions. Twenty-nine in-depth interviews were undertaken ...
Currently, in most countries clinicalBRCA1/2testing is offered after genetic counseling by clinical cancer geneticist (oncogeneticist) when mutation finding probability exceeds 10%, or even 20% (as in the UK) [18]. Various selection criteria, based on family history, age at onset and tumors cl...
This cohort study estimates age-specific risks of breast, ovarian, and contralateral breast cancer among carriers of BRCA1 and BRCA2 mutations and
In the ten years since the discovery of BRCA1 and BRCA2, genetic testing for breast and ovarian cancer susceptibility has become integrated into the practice of clinical oncology. Attempts to identify a third breast cancer susceptibility locus (BRCA3) have so far been unsuccessful. This is probab...
那与癌症有关的基因为什么会发生突变呢?原因主要有两方面,一是由后天环境因素引起,如吸烟、饮酒、辐射等;也有一部分来自先天遗传,也就是遗传了某种基因突变,比如人们熟知的BRCA1、BRCA2基因突变。 通常,由后天因素导致的基因突变不会遗传给下一...
Figure 2. Clinical Summary: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer View LargeDownload BRCA indicates breast cancer susceptibility gene; USPSTF, US Preventive Services Task Force. Table 1. Ontario Family History Assessment Toola View LargeDownload Risk FactorPoint...
[摘要]BRCA基因(包括BRCA1和BRCA2)的胚系突变是家族性乳腺癌、卵巢癌等肿瘤的核心风险因素。在人群中,特别是已有肿瘤家族史的高危人群中,BRCA基因检测可以发挥预防性管理作用,有助于降低此类遗传性疾病的死亡率和社会危害。近年来基于二...
BReast CAncer gene 1 (BRCA1) and BReast CAncer gene 2 (BRCA2) encode for tumor suppressor proteins which are critical regulators of the Homologous Recombination (HR) pathway, the most precise and important DNA damage response mechanism. Dysfunctional HR