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...
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 ...
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。
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 ...
Thus, the genomic instability arising due to the lowering in the levels of Brca1 and Brca2 proteins and mutation in exon 11 of Brca1 gene contributed to the increased risk of cancer in mice exposed transgenerationally to AEBN. Introduction Areca nut, also known as betel nut (BN), forms ...
region. Methylation inhibition with adenosine dialdehyde (AdOx) improved BRCA1 recruitement to the APEX, ARHG and GADD45G promotersin vivo. This later observation has been validated in PRMT1 deficient cells. In contrast, BRCA1 recruitment to the ESR2, SREB andFGF9gene promoters was diminished...
[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 ...
Objective To examine the effect of tamoxifen therapy, bilateral prophylactic oophorectomy (PO), prophylactic contralateral mastectomy (PCM), and combinations of these strategies on life expectancy for women with unilateral breast cancer and a BRCA1 or BRCA2 gene mutation. Design and Setting Decision ...
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 ...
A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers Variation in the penetrance estimates for BRCA1 and BRCA2 mutation carriers suggests that other genetic polymorphisms may modify the cancer risk in carrier.....