PDF(Pubmed)
Abstract：
Cholangiocarcinoma is an aggressive malignancy involving the epithelial cells of the intrahepatic, perihilar, or extrahepatic biliary tree. It is a disease that is often diagnosed late in its course and progresses quickly. Identifying genomic mutations may provide an important utility in predicting disease course and individualizing therapy for these patients. Mutations in BRCA1 or BCRCA2 genes have been increasingly documented in hepatobiliary malignancies, but they remain a relatively uncommon occurrence. Co-mutations in both BRCA1 and BRCA2 genes are even rarer, with no previously documented reports to our knowledge of BRCA co-positivity in a patient with a hepatobiliary malignancy. We present a case of a patient with cholangiocarcinoma found to have mutations in both BRCA1 and BRCA2 genes.
摘要：
胆管癌是一种累及肝内上皮细胞的侵袭性恶性肿瘤，门周,或者肝外胆道树.这是一种疾病，通常在病程后期被诊断出来，进展迅速。识别基因组突变可能在预测疾病过程和对这些患者进行个体化治疗方面提供重要的用途。BRCA1或BCRCA2基因的突变已在肝胆恶性肿瘤中得到越来越多的证明。但它们仍然是一个相对罕见的事件。BRCA1和BRCA2基因的共突变甚至更罕见，我们以前没有关于肝胆恶性肿瘤患者BRCA共阳性的记录报告。我们介绍了一例胆管癌患者的BRCA1和BRCA2基因突变。
