Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan.
Int J Mol Sci. 2021 Dec 29;23(1):348. doi: 10.3390/ijms23010348.
Homologous recombination (HR) is a vital process for repairing DNA double-strand breaks. Germline variants in the HR pathway, comprising at least 10 genes, such as , , , , , , (), , , and , lead to inherited susceptibility to specific types of cancers, including those of the breast, ovaries, prostate, and pancreas. The penetrance of germline pathogenic variants of each gene varies, whereas all their associated protein products are indispensable for maintaining a high-fidelity DNA repair system by HR. The present review summarizes the basic molecular mechanisms and components that collectively play a role in maintaining genomic integrity against DNA double-strand damage and their clinical implications on each type of hereditary tumor.
同源重组（HR）是修复 DNA 双链断裂的重要过程。HR 途径中的种系变异至少包括 10 个基因，如 、 、 、 、 、 、 、 、和 ，导致对特定类型癌症的遗传易感性，包括乳腺癌、卵巢癌、前列腺癌和胰腺癌。每个基因的种系致病性变异的外显率不同，而所有相关的蛋白产物对于通过 HR 维持高保真 DNA 修复系统都是必不可少的。本综述总结了共同作用以维持基因组完整性以抵抗 DNA 双链损伤的基本分子机制和组成部分，以及它们对每种遗传性肿瘤的临床意义。
