Research Highlights

Medical genetics: Spirits away

Subject Categories: Genetics

Published online 9 April 2014


Genetic study shows that drinking alcohol can increase the risk of developing oesophageal cancer

Felix Cheung

© (2014) Thinkstock

Oesophageal cancer is the sixth leading cause of cancer deaths and one of the most commonly diagnosed cancers worldwide. Despite extensive research, however, the pathogenesis of oesophageal cancer remains unclear.

Now, Qimin Zhan at the Chinese Academy of Medical Sciences and Peking Union Medical College in Beijing and co-workers1 have conducted whole-genome sequencing, whole-exome sequencing and comparative genomic hybridization analysis on 158 oesophageal cancer patients from Chaoshan, a region in the east of Guangdong province with a high prevalence of oesophageal cancer. They identified eight significantly mutated genes, of which two were newly discovered oesophageal cancer genes.

The first gene, called ADAM29, is a gene frequently mutated in skin cancer. The second gene, called FAM135B, promotes cancer cell characteristics, including cell growth, colony formation, migration and invasion.

The researchers identified a microRNA called MIR548K that has never been associated with human cancers. In addition, they detected a large number of non-silent mutations in 48 histone modification genes.

Comparative genomic hybridization analysis revealed that oesophageal cancer shares a common pathogenic mechanism with head and neck cancers, and that the risk of oesophageal cancer is correlated with the consumption of alcohol. The findings shed new light on biological markers and therapeutic strategies for the control and prevention of oesophageal cancer.

The authors of this work are from:
State Key Laboratory of Molecular Oncology, Cancer Institute and Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China; BGI-Shenzhen, Shenzhen, China; Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China; Department of Biochemistry and Molecular Biology, Key Laboratory of Molecular Biology for High Cancer Incidence, Shantou University, Shantou, China; Institute of Oncologic Pathology, Shantou University, Shantou, China; Department of Tumor Surgery, Shantou Central Hospital, Sun Yat-sen University, Shantou, China.


  1. Song, Y. et al. Identification of genomic alterations in oesophageal squamous cell cancer. Nature 10.1038/nature13176 (2014). | Article |