Genetic Variations Linked to Hepatocellular Carcinoma: Personalized Medicine Takes a Step Forward
Parul D. Agarwal MD & Michael R. Lucey MD
The American Journal of Gastroenterology (2018)
Hepatocellular carcinoma (HCC) remains a major global health problem, and is the third leading cause of cancer-related mortality worldwide. The vast majority of HCC emerges against the background of cirrhosis, often related to infection with chronic viral hepatitis, including hepatitis B and hepatitis C viral infection, which account for approximately 54% and 31%, respectively, of HCC cases worldwide [1]. The prevalence of HCC varies geographically, with the highest occurrences in Southeast Asia and sub-Saharan Africa, mirroring the endemic high prevalence of chronic viral hepatitis in these countries. In the West, cirrhosis related to both alcohol-associated and non-alcohol-associated steatohepatitis (NASH) represent common etiological pathways for development of HCC. Patients with alcohol-associated cirrhosis have an estimated risk of developing HCC of 1–2% annually [2]. Other factors, including older age, male sex, obesity and diabetes mellitus, and environmental exposure to aflatoxin represent additional independent predictors for development of HCC in cirrhosis [2].
However, up to recently, it has been a relative mystery why some patients with risk factors, such as excessive consumption of alcohol, progress to cirrhosis, whereas others with a similar risk profile do not; and similarly, why HCC arises in some but not most persons with cirrhosis. The mystery has started to clear since the completion of the human genome project was completed in 2003, with greater understanding of the role of inherited factors in the pathogenesis of cirrhosis and of HCC. The study of Stickel et al. [3] in the present edition of AJG is a valuable addition to this literature.
Continue reading: https://www.nature.com/articles/s41395-018-0260-z
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