【佳学基因检测】估计外显率的亲属队列研究

国内正规肿瘤基因检测机构关键点

深究基因检测机构自我培训教材看到《Am J Epidemiol》在. 1998 Oct 1;148(7):623-30.发表了一篇题目为《估计外显率的亲属队列研究》肿瘤靶向药物治疗基因检测临床研究文章。该研究由S Wacholder , P Hartge, J P Struewing, D Pee, M McAdams, L Brody, M Tucker等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤大数据临床研究内容关键词：

亲属队列,外显率,癌症,基因突变,加权平均,验证者

肿瘤靶向治疗基因检测临床应用结果

在检查基因突变对癌症家族以外癌症外显率的影响时，横断面研究可能比队列研究或病例对照研究更可行。亲属队列设计使用从感兴趣突变频率相对较高的人群中选择的志愿者先证者。通过将突变阳性和阴性先证者的一级亲属的癌症风险视为携带者和非携带者风险的加权平均值，并假设已知的遗传模式计算权重，可以推断出突变的外显率。德系犹太人中常见的 BRCA1 和 BRCA2 基因的三个特定突变在 70 岁时外显率估计为 63%。在突变流行率相对较高的环境中，亲属队列设计可以成为快速估计志愿者外显率的有用工具。

肿瘤发生与复发转移国际数据库描述：

A cross-sectional study may be more feasible than a cohort or case-control study for examining the effect of a genetic mutation on cancer penetrance outside of cancer families. The kin-cohort design uses volunteer probands selected from a population with a relatively high frequency of the mutations of interest. By considering the cancer risk in first-degree relatives of mutation-positive and -negative probands as a weighted average of the risk in carriers and noncarriers, with weights calculated assuming a known mode of inheritance, one can infer the penetrance of the mutations. The estimates of penetrance by age 70 years for three specific mutations in the BRCA1 and BRCA2 genes common among Ashkenazi Jews for the first occurrence of breast or ovary cancer is 63%. The kin-cohort design can be a useful tool for quickly estimating penetrance from volunteers in a setting in which the mutation prevalence is relatively high.