New study aims to uncover some of the unknown causes of oesophageal squamous cell carcinoma by using mutational signatures

Oesophageal cancer is the sixth most frequent cause of cancer deaths worldwide, and oesophageal squamous cell carcinoma (ESCC) is the most common subtype. ESCC shows remarkable variation in incidence globally, and the majority of cases occur in low- and middle-income countries. This variation in incidence is not fully explained by known lifestyle and environmental risk factors, and it has been speculated that an unknown exogenous exposure could be responsible.

A new global collaborative study by researchers from the International Agency for Research on Cancer (IARC) and partners, published in Nature Genetics, aims to uncover some of the unknown causes of ESCC by using mutational signatures, i.e. patterns left in DNA by factors linked to cancer development.

Moody S, Senkin S, Islam SMA, Wang J, Nasrollahzadeh D, Cortez Cardoso Penha R, et al.
Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence
Nat Genet, Published online 18 October 2021;
https://doi.org/10.1038/s41588-021-00928-6

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