·中文论著摘要· 乳腺癌易感基因1(BRCAl)蛋白表达和启动子甲基 化与中国女性家族性乳腺癌发生发展相关性研究 目 的 乳腺癌分为家族型和散发型,大约95%为散发性乳腺癌,家族型约占5%一10%。 大量研究显示乳腺癌的发生是环境因素和遗传因素共同作用的结果。家族史是目 前流行病学最为肯定的乳腺癌高危因素之一,部...
Research evaluating the distribution and prevalence of BRCA1/2 mutations in Central and South American populations has been quite limited as compared to the number of studies in North America, Europe, Australia and Israel. Moreover, some of the studies performed in Latin America have analyzed hered...
The triangle plot in Figure 1 (right) demonstrates the and sequenced. The PCR reactions of the BRCA2 c.156_157insAlu were run with a positive control. The gene reference sequences were NG_005905.2, NG_012772.3, NG_008150.1 and NG_017013.2, which are available in GenBank (NCBI, NIH, ...
We addressed these observations in two settings: offspring of 283 mutation carriers and 471 mutation negative subjects from BRCA1/2 mutation-positive families with multiple cases of breast and ovarian cancer (NCI families); and relatives of 115 BRCA1/2 mutation carriers from the Washington Ashkenazi...
模型构建代码主体如下:“glm(Recurrence ~ Age_at_surgery+Menopause+Grade+Size_cm+LN_positive+Chemotherapy+Surgery+mRNA_Subtype+Radiotherapy” ⑵在BRCA1/2胚系突变患者中,通过多元logistic回归分析评估以下因素是否影响第二原发肿瘤的发生:...
Objective: Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose women to breast and ovarian cancer. Female carriers of BRCA1 or BRCA2 gene mutations have very high lifetime risks for breast and ovarian cancers. Gen... B Friedenson - 《Medgenmed》 被引量: 252发表: ...
A test for trend was performed using Cox regression by including a continuous variable in the model representing the number of breast or ovarian cancers in female first- or second-degree relatives (taking values of 0, 1, 2, 3, etc). Separate variables were derived for the number of breast...
D. et al. Disruption of the expected positive correlation between breast tumor size and lymph node status in BRCA1-related breast carcinoma. Cancer 98, 1569–1577 (2003). PubMed Google Scholar Goffin, J. R. et al. Impact of germline BRCA1 mutations and overexpression of p53 on prognosis...
A multi-case report of the pathways to and through genetic testing and cancer risk management for BRCA mutation-positive women aged 18-25. J Genet Couns 2013;22:27–38. 474 Volume 17 | Number 6 | June 2015 | Genetics in medicine BRCA1/2 test uptake in a randomized telephone counseling ...
Site-directed mutagenesis has been used to synthesize mutation-positive controls for several of the mutations/polymorphisms within the panel. By determining the presence of these BRCA1/BRCA2 mutations/variants in a biological sample taken from a test subject, that subject predisposition to developing ...