Association of the ARLTS1 variants with familial ovarian cancer risk in China.

摘要: ARLTS1 has been identified in chromosome 13q14 as a tumor suppressor gene of the adenosine diphosphate-ribosylation factor family with pro-apoptotic characteristics. The mutation Trp149Stop and Cys148Arg have shown to be associated familial cancers, but limited information is available regarding impact variants on ovarian cancer (OC). aim this study was evaluate genetic OC risk China. We genotyped 85 patients ovarian/breast history, 80 sporadic patients, 120 controls from general population by denaturing high-performance liquid chromatography screening analysis followed direct sequencing conspicuous polymerase chain reaction products. revealed significant association an increased compared both cases dose-dependent manner (P = 0.0031 0.012, respectively). In clinical-pathological study, our results support previous data demonstrating that younger age at diagnosis (49.7 years vs 53.3 years; P 0.014), higher proportion tumors advanced stages (81.2% 67.5%; 0.033), rates serous adenocarcinomas (76.4% 53.8%; 0.028) cases. To investigate between characteristics OC, we significantly adenocarcinoma (55/67, 82.1%) stage (88.1% 55.6%; 0.004) carriers. showed for variant, which indicate may play role OC.