A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening

Scientists from the International Agency for Research on Cancer (IARC) and partner institutions have shown that polygenic risk scores derived from genome-wide association studies (GWAS) enable effective identification of individuals at high risk of developing nasopharyngeal carcinoma. When used together with tests for Epstein–Barr virus serology, the GWAS-derived polygenic risk scores significantly improve risk stratification and can inform personalized screening. The research was published in the journal Nature Communications.

This multicentre study used data from six populations in China, including 6059 patients with nasopharyngeal carcinoma and 7582 controls, and evaluated the utility of the polygenic risk score in a nested case–control study. The researchers showed improved risk prediction within the incremental deciles of the polygenic risk score in each population.

Polygenic risk scores for nasopharyngeal carcinoma enable a better understanding for risk stratification. Nasopharyngeal carcinoma is one of the most common malignancies in East and South-East Asia, where more than 70% of the 129 079 new cases worldwide were diagnosed in 2018. In endemic regions, incidence peaks at age 40–65 years. Almost 80% of patients with nasopharyngeal carcinoma are diagnosed at an advanced stage. Given the peak occurrence of this disease at a relatively young age and the poor prognosis, nasopharyngeal carcinoma contributes prominently to the cancer burden in endemic areas, with substantial economic and societal impacts.

He YQ, Wang TM, Ji M, Mai ZM, Tang M, Wang R, et al.
A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening
Nat Commun, Published online 12 April 2022;
https://doi.org/10.1038/s41467-022-29570-4

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