Kang Daehee, Choi Ji-Yeob
Seoul National University, Seoul, South Korea.
Adv Exp Med Biol. 2021;1187:419-434. doi: 10.1007/978-981-32-9620-6_22.
Susceptibility genes involved in disease etiology and prognosis are categorized into two groups: high penetrance genes (i.e., BRCA1, CHEK2, ATM, etc.) and low penetrance genes (i.e., NATs, GSTs, CYPs, etc., and variants identified by genome-wide association studies). Since low penetrance genes have high population attributable risk, the usefulness of those genes to research on breast cancer prevention is not small. In this chapter, the previous studies on low-penetrance genetic susceptibility through a candidate gene approach and genome-wide association of breast cancer were summarized. The contribution of low-penetrance susceptibility genes to the breast cancer risk prediction models will also be discussed on the utility in clinical or public health application.
高外显率基因（如BRCA1、CHEK2、ATM等）和低外显率基因（如NATs、GSTs、CYPs等，以及通过全基因组关联研究鉴定的变异体）。由于低外显率基因具有较高的人群归因风险，这些基因在乳腺癌预防研究中的作用不容小觑。在本章中，总结了以往通过候选基因方法和乳腺癌全基因组关联研究低外显率遗传易感性的研究。还将讨论低外显率易感基因对乳腺癌风险预测模型的贡献及其在临床或公共卫生应用中的效用。
