A total of 409 breast cancer patients were analyzed based on next-generation sequencing results, with 337 categorized as non-carriers and 72 as carriers ofBRCA1/2variants. Data on the patients’BRCA1/2gene mutation status, clinical and pathological characteristics, as well as menstrual and reprodu...
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。
[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 family history of cancer, can play a preventive role by reducing m...
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...
[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。近年来基于二代测序技术的BRCA胚系突变检测方案逐步落地,检测可及性不断增强。为了进一步规范相...
[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...
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 ...
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...
2 Considering the importance of BRCA1, BRCA2, CHEK2 and TP53 in the development of hereditary early-onset breast and ovarian cancer and that the genetic susceptibility profile of the Northeast population from Brazil has never been analyzed, this study aimed to verify the frequency of mutations ...
相反,对肿瘤组织进行的二代测序(NGS)揭示了BRCA2突变,这是现有文献中未报道的发现。BRCA2基因是包括BRCA1和BRCA2在内的乳腺癌易感基因(BRCA)家族的一部分,作为抑癌基因发挥着至关重要的作用。抑癌基因BRCA1/2在DNA双链断裂同源重组(HR)修复中起关键作用。导致BRCA1/2蛋白功能失调的BRCA1/2基因突变可损害基因...