Schnurbein Gioia, Hauke Jan, Wappenschmidt Barbara, Weber-Lassalle Nana, Engert Stefanie, Hellebrand Heide, Garbes Lutz, Becker Alexandra, Neidhardt Guido, Rhiem Kerstin, Meindl Alfons, Schmutzler Rita K, Hahnen Eric
Breast Cancer Res. 2013 Dec 20;15(6):R120. doi: 10.1186/bcr3589.
RAD51C is an integral part of the DNA double-strand repair through homologous recombination, and monoallelic mutations were found in ~1.3% of BRCA1/2-negative breast cancer (BC) and/or ovarian cancer (OC) families. Several studies confirmed the occurrence of RAD51C mutations predominantly in BC and/or OC families, although with varying frequencies, clearly establishing RAD51C as a cancer-predisposing gene. There is ongoing debate whether pathogenic RAD51C alterations increase the relative risk for BC in addition to that for OC, which was estimated to be 5.88 (95% confidence interval = 2.91 to 11.88; P = 7.65 × 10(-7)).
RAD51C是通过同源重组进行DNA双链修复的一个组成部分,在约1.3%的BRCA1/2基因阴性的乳腺癌(BC)和/或卵巢癌(OC)家族中发现了单等位基因突变。多项研究证实RAD51C突变主要发生在BC和/或OC家族中,尽管频率有所不同,但明确将RAD51C确定为一种癌症易感基因。对于致病性RAD51C改变除了增加OC的相对风险外是否还会增加BC的相对风险,目前仍存在争议,OC的相对风险估计为5.88(95%置信区间=2.91至11.88;P = 7.65×10⁻⁷)。