As one might expect, a gain-of-function mutation in the p53-encoding gene, Trp53, also yielded an accelerated aging mouse model (Tyner et al., 2002). p53 is a tumour suppressor protein that regulates cell response to DNA damage by promoting either cell senescence or apoptosis (Levine, ...
针对其开展分析,分别在非BRCA1/2胚系突变患者(n=261)与BRCA1/2胚系突变患者(n=31)中进行多元logistic回归分析,以评估影响第二原发肿瘤的风险因素,并对上述两人群中的分析结果进行交互作用分析,从而评估BRCA1/2胚系突变与放疗的交互作用。
Experiences of BRCA1/2 Gene Mutation-Positive Women With Cancer in Communicating Genetic Risk to Their RelativesBRCACancerExperiencesFamilyGeneticRisk communicationBackgroundSeven, MemnunShah, Lisa L.Daack-Hirsch, SandraYazici, HulyaUniv Massachusetts Coll Nursing 230 Skinner Hall 651 N Pleasant St ...
Screening for BRCA1 and BRCA2 mutations provides potentially significant health benefits. Armed with genetic results, physicians may offer risk-reducing options for mutation carriers who have, thus far, not developed cancer, such as prophylactic mastectomy and oophorectomy, prophylactic tamoxifen, or su...
To compare the performance characteristics of a web-based BRCA1/BRCA2 gene mutation prediction model: the PENNII model ( www.afcri.upenn.edu/itacc/penn2 ), with studies done previously at our institution using four other models including LAMBDA, BRCAPRO, modified PENNI (Couch) tables, and ...
[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...
BRCA2-Associated Breast Cancer—Fact Sheet Definition ▪ Familial breast cancer attributable to inheritance of a germline mutation in the tumor suppressor gene, BRCA2, located on chromosome 13q12-13 Gender, Race, and Age Distribution ▪ Mutations in BRCA2 have been described in all races with...
Homologous Recombination Deficiency (HRD) and BRCA 1/2 Gene Mutation for Predicting the Effect of Platinum-Based Neoadjuvant Chemotherapy of Early-Stage Tr... Homologous Recombination Deficiency (HRD) and BRCA 1/2 Gene Mutation for Predicting the Effect of Platinum-Based Neoadjuvant Chemotherapy of ...
Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis. Cancer 2012;118(8):2021-30.Lowry KP, Lee JM, Kong CY et al. Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis. Cancer 2012; ...
BRCA基因包括BRCA1和BRCA2,可编码DNA同源重组过程中的关键功能蛋白,是维持人体基因组稳定性的核心基因[1]。目前已经确认BRCA基因存在大量致病性的胚系突变,并与多种肿瘤,特别是家族性乳腺癌和卵巢癌,以及胰腺癌、前列腺癌、黑色素瘤的发生风险存在密切关联[2]。相较于在肿瘤患者中进行BRCA基因突变检测的“诊断性”作...