Genome-wide DNA methylation profiling of esophageal squamous cell carcinoma from global high-incidence regions identifies crucial genes and potential cancer markers

Scientists from the International Agency for Research on Cancer (IARC), working with international partners, have identified new epigenetic changes that are specific to oesophageal cancers in tumour samples from populations in different parts of the world. These changes could become the target of new methods to detect this cancer type, oesophageal squamous cell carcinoma, at an early stage in high-incidence populations.

The researchers examined the incidence of aberrant epigenome (DNA methylation) profiles – alterations of the DNA methylation patterns, which can be caused by the interaction of agents in an individual’s environment with DNA. This is the largest genome-wide DNA methylation study of its kind, using samples of oesophageal squamous cell carcinoma from nine countries with high incidence of this disease, including countries in Africa, Asia, and South America.

The team found that seven alterations affecting three genes could identify tumours with high sensitivity and specificity. These alterations have the potential to be used as markers of oesophageal squamous cell carcinoma in low-resource settings. The aberrant DNA methylation markers identified in this study also warrant further functional characterization.

Talukdar FR, Soares Lima SC, Khoueiry R, Laskar RS, Cuenin C, Pereira Sorroche B, et al.
Genome-wide DNA methylation profiling of esophageal squamous cell carcinoma from global high-incidence regions identifies crucial genes and potential cancer markers
Cancer Res, Published online 19 March 2021;
https://doi.org/10.1158/0008-5472.CAN-20-3445

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