IA05:乳腺癌遗传易感性建模

A. Antoniou
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引用次数: 0

摘要

到目前为止,已经确定了几种乳腺癌遗传易感性变异。这些突变包括高风险BRCA1和BRCA2基因的突变,其他具有中高风险的罕见遗传变异(例如PALB2、CHEK2、ATM等)和具有低风险的>150个常见等位基因(snp)。报告将概述了解BRCA1、BRCA2和PALB2突变外显率的最新发展和挑战。目前,BRCA1和BRCA2突变女性的遗传咨询依赖于从回顾性外显率研究中获得的平均癌症风险估计。本次演讲将根据国际BRCA1/2携带者队列研究的数据,介绍正在进行的前瞻性分析的外显率估计,该研究是BRCA1/2突变携带者的最大前瞻性队列,包括约10,000名BRCA1/2突变携带者,并提供随访信息。讲座还将回顾BRCA1/2修饰因子研究联盟的最新努力和结果,以确定和表征BRCA1和BRCA2突变携带者的癌症风险基因修饰因子,并为BRCA1和BRCA2突变女性提供个体化的癌症风险。最后,报告将描述开发乳腺癌综合风险预测模型的努力,特别是BOADICEA模型,该模型包括BRCA1、BRCA2、PALB2、CHEK2、ATM突变的明确影响,以及通过全基因组关联研究确定的常见乳腺癌易感性变异。引文格式:Antonis C. Antoniou。乳腺癌的遗传易感性模型。[摘要]。摘自:AACR特别会议论文集:改进癌症风险预测以预防和早期发现;2016年11月16日至19日;费城(PA): AACR;Cancer epidemiology Biomarkers pre2017;26(5增刊):摘要nr IA05。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Abstract IA05: Modeling genetic susceptibility to breast cancer
Several breast cancer genetic susceptibility variants have been identified to date. These include mutations in the high risk BRCA1 and BRCA2 genes, other rare genetic variants conferring intermediate to high risks (e.g. PALB2, CHEK2, ATM and others) and >150 common alleles (SNPs) conferring low risks. The presentation will provide an overview of the latest developments and challenges in understanding the penetrance of mutations in BRCA1, BRCA2 and PALB2. Genetic counseling of women with BRCA1 and BRCA2 mutations currently relies on average cancer risk estimates obtained from retrospective penetrance studies. The talk will present penetrance estimates from ongoing prospective analyses, based on data from the International BRCA1/2 Carrier Cohort Study, the largest prospective cohort of BRCA1/2 mutation carriers that includes ~10,000 BRCA1/2 mutation carriers with follow-up information. The talk will also review the latest efforts and results from the Consortium of Investigators of Modifiers of BRCA1/2 to identify and characterise genetic modifiers of cancer risks for BRCA1 and BRCA2 mutation carriers and to provide individualized cancer risks for women with BRCA1 and BRCA2 mutations. Finally, the presentation will describe the efforts to develop a comprehensive risk prediction model for breast cancer, specifically the BOADICEA model that includes the explicit effects of mutations in BRCA1, BRCA2, PALB2, CHEK2, ATM, and of the common breast cancer susceptibility variants identified through genome-wide association studies. Citation Format: Antonis C. Antoniou. Modeling genetic susceptibility to breast cancer. [abstract]. In: Proceedings of the AACR Special Conference: Improving Cancer Risk Prediction for Prevention and Early Detection; Nov 16-19, 2016; Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2017;26(5 Suppl):Abstract nr IA05.
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