[5] Wu C, Fan M, Hu Y. Response to olaparib in metastatic lung adenocarcinoma with germline BRCA2 mutation: a case report. Anticancer Drugs. 2022 Jan 1;33(1):e734-e737. [6] Waddington T , Mambetsariev I ,...
[2]Finch A, Beiner M, Lubinski J, et al. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. JAMA 2006; 296(2):185–192. [3]Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers...
TIPS|始祖突变[2] 始祖突变(founder mutation)即发生在特定人群中的突变,是指在一个人群的祖先中,有一个或多个个体携带特定突变,这些突变能够通过遗传传给后代,这种始祖突变往往会在特定人群形成突变热点,当这个人群扩大时,此突变得以在人群中播散开来。对特定的人群而言,始祖突变使遗传异质性减少,并使对突变携带者...
始祖突变(founder mutation)即发生在特定人群中的突变,是指在一个人群的祖先中,有一个或多个个体携带特定突变,这些突变能够通过遗传传给后代,这种始祖突变往往会在特定人群形成突变热点,当这个人群扩大时,此突变得以在人群中播散开来。对特定的人群而言,始祖突变使遗传异质性减少,并使对突变携带者的检测和遗传咨询更...
1. Liming Su, et al. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers in a large cohort of unselected Chinese breast cancer patients. Int. J. Cancer, 2020, 146: 3335-3342. 2. Yadav S,Hu C,Hart SN,et al.Evalu...
Three of them carried the Slovenian founder mutation IVS16-2A>G. All four mutations were confined to the patients with a family history of breast cancer. Among the MBC patients with a family history of breast cancer in the first- or second-degree relatives, the frequency of BRCA2 gene ...
近日,求臻医学与青岛市中心医院放疗科张小涛主任合作,首次报道了一例有BRCA2胚系移码突变(NM_000059.3:exon11: c.4563_4564delAT: L1522fs)的难治性转移性纵隔卵黄囊瘤患者对局部放疗有显著反应。目前该案例报道(case report)已在线发表于Cancer Biology & Therapy(IF:4.742)。
近日,求臻医学与青岛市中心医院放疗科张小涛主任合作,首次报道了一例有BRCA2胚系移码突变(NM_000059.3:exon11: c.4563_4564delAT: L1522fs)的难治性转移性纵隔卵黄囊瘤患者对局部放疗有显著反应。目前该案例报道(case report)已在线发表于Cancer Biology & Therapy(IF:4.742)。
BRCA1和BRCA2基因检测通常是通过血液或唾液样本获取DNA细胞来进行的。运用PCR技术，包括但不限于阴性...
9.ATP7A Genetic Analysis of Menkes Disease;Menkes病的ATP7A基因突变分析 10.Construction of Streptococcus mutans comE Mutant Strain Using In-frame Deletion System框内缺失突变法构建变形链球菌comE基因突变株 11.Mutation Analysis of Tumor Suppressor Genes (CDH1 and Ago Gene) Related with Gastric Carcinoma;...