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首页> 外文期刊>Genomics >Mutations in TP53, CTNNB1 and PIK3CA genes in hepatocellular carcinoma associated with hepatitis B and hepatitis C virus infections
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Mutations in TP53, CTNNB1 and PIK3CA genes in hepatocellular carcinoma associated with hepatitis B and hepatitis C virus infections

机译：乙型肝炎和丙型肝炎病毒感染相关的肝细胞癌中TP53，CTNNB1和PIK3CA基因的突变

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摘要

Hepatocellular carcinoma (HCC) is the third leading cause of cancer death worldwide. Hepatocarcinogenesis is a multistep process mainly associated with persistent infection with hepatitis B (HBV) or C (HCV) viruses and always involving the accumulation of genetic alterations over decades of chronic liver disease. Mutations in TP53 and CTNNB1 genes are considered the cancer drivers for HCC development with variable frequencies depending on the etiology. Here we present a comprehensive review evaluating somatic mutations in TP53 and CTNNB1 genes in HBV- and HCV-related HCCs. Moreover, we report the mutational analysis of TP53 (exons 4-9) and CTNNB1 (exon 3) as well as PIK3CA (exon 9) genes in HCC from Southern Italy. The overall mutation frequency of TP53 and CTNNB1 was 33.3%, while hotspot variations in PIK3CA were completely absent. CTNNB1 mutations were significantly associated with young age (P. =.0.019) and moderately/poorly differentiated HCV-related HCC (P. =.0.015). The extended analysis of genetic alterations will help to identify molecular markers for liver cancer prevention, diagnosis and treatment of HBV and HCV-associated liver cancer.
机译：肝细胞癌（HCC）是全球癌症死亡的第三大主要原因。肝癌发生是一个多步骤过程，主要与持续感染乙型肝炎（HBV）或丙型肝炎（HCV）病毒有关，并且总是涉及数十年的慢性肝病的遗传改变积累。 TP53和CTNNB1基因的突变被认为是肝癌发展的癌症驱动因素，其频率取决于病因。在这里，我们提出了一项全面的评估，评估在HBV和HCV相关的HCC中TP53和CTNNB1基因的体细胞突变。此外，我们报告了意大利南部HCC中TP53（外显子4-9）和CTNNB1（外显子3）以及PIK3CA（外显子9）基因的突变分析。 TP53和CTNNB1的总体突变频率为33.3％，而PIK3CA完全没有热点变化。 CTNNB1突变与年轻（P = 0.019）和中/弱分化的HCV相关肝癌（P = 0.015）显着相关。遗传变异的扩展分析将有助于鉴定预防，诊断和治疗HBV和HCV相关肝癌的分子标志物。

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