Human Genetics Group, Spanish National Cancer Research Centre, C/Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Br J Cancer. 2009 Dec 15;101(12):2048-54. doi: 10.1038/sj.bjc.6605416. Epub 2009 Nov 17.
In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers.
We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach.
We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers.
This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
本研究旨在评估 ERCC4 基因（rs744154）内含子 1 中的 SNP 作为 BRCA1 和 BRCA2 突变携带者乳腺癌风险修饰因子的作用，该 SNP 先前被报道与普通人群乳腺癌风险降低相关。
我们对来自乳腺癌 1 和 2 突变携带者的改良因素联合研究（CIMBA）的 9408 名 BRCA1 和 5632 名 BRCA2 突变携带者进行了 rs744154 基因分型，并使用回顾性加权队列方法评估了其与乳腺癌风险的相关性。
我们没有发现该 SNP 与 BRCA1（每个等位基因 HR：0.98，95%CI：0.93-1.04，P = 0.5）或 BRCA2（每个等位基因 HR：0.97，95%CI：0.89-1.06，P = 0.5）突变携带者乳腺癌风险之间存在关联。
该 SNP 不是突变携带者乳腺癌风险的重要修饰因子，但不能排除微弱关联的可能性。
