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肝癌风险:遗传异质性和复杂遗传学。

Risk of HCC: genetic heterogeneity and complex genetics.

机构信息

Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Via G. Venezian 1, Milan, Italy.

出版信息

J Hepatol. 2010 Feb;52(2):252-7. doi: 10.1016/j.jhep.2009.11.015. Epub 2009 Nov 24.

DOI:10.1016/j.jhep.2009.11.015
PMID:20022654
Abstract

Hepatocellular carcinoma (HCC) is a common form of cancer that arises from hepatocytes and whose risk may be affected by several known environmental factors, including hepatitis viruses, alcohol, cigarette smoking, and others. Rare monogenic syndromes, such as alpha1-antitrypsin deficiency, glycogen storage disease type I, hemochromatosis, acute intermittent and cutanea tarda porphyria, as well as hereditary tyrosinemia type I are associated with a high risk of HCC. Several common conditions or diseases inherited as polygenic traits e.g. autoimmune hepatitis, type 2 diabetes, a family history of HCC, hypothyroidism, and non-alcoholic steatohepatitis also show an increased risk of HCC compared to the general population. Overall, the genetic susceptibility to HCC is characterized by a genetic heterogeneity; a high individual risk of HCC may thus be caused by several unlinked single gene defects, whose carriers are rare in the general population, or by more common conditions inherited by complex genetics.

摘要

肝细胞癌 (HCC) 是一种常见的癌症,它起源于肝细胞,其风险可能受到多种已知环境因素的影响,包括肝炎病毒、酒精、吸烟等。罕见的单基因综合征,如α1-抗胰蛋白酶缺乏症、I 型糖原贮积病、血色病、急性间歇性卟啉症和迟发性皮肤卟啉症,以及遗传性酪氨酸血症 I 型,与 HCC 的高风险相关。一些常见的疾病或遗传多基因特征,如自身免疫性肝炎、2 型糖尿病、HCC 家族史、甲状腺功能减退症和非酒精性脂肪性肝炎,与普通人群相比,HCC 的风险也有所增加。总的来说,HCC 的遗传易感性具有遗传异质性;因此,HCC 的个体高风险可能是由几个不相关的单基因缺陷引起的,这些缺陷的携带者在普通人群中很少见,或者是由更常见的、通过复杂遗传方式遗传的疾病引起的。

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