Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Nat Genet. 2011 Aug 7;43(9):828-9. doi: 10.1038/ng.903.
Through exomic sequencing of ten hepatitis C virus (HCV)-associated hepatocellular carcinomas (HCC) and subsequent evaluation of additional affected individuals, we discovered novel inactivating mutations of ARID2 in four major subtypes of HCC (HCV-associated HCC, hepatitis B virus (HBV)-associated HCC, alcohol-associated HCC and HCC with no known etiology). Notably, 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivation mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype.
通过对十个丙型肝炎病毒 (HCV) 相关肝细胞癌 (HCC) 的外显子组测序，以及对其他受影响个体的后续评估，我们在 HCC 的四个主要亚型 (HCV 相关 HCC、乙型肝炎病毒 (HBV) 相关 HCC、酒精相关 HCC 和病因不明的 HCC) 中发现了 ARID2 的新型失活突变。值得注意的是，在美国和欧洲，18.2% 的 HCV 相关 HCC 患者存在 ARID2 失活突变，这表明 ARID2 是一种肿瘤抑制基因，在这种肿瘤亚型中相对常见发生突变。
