News Release

'Junk DNA' affects inherited cancer risk

Peer-Reviewed Publication

Cancer Research UK

A person's risk of developing cancer is affected by genetic variations in regions of DNA that don't code for proteins, previously dismissed as 'junk DNA', according to new research published in the British Journal of Cancer today (Friday).

This new study shows that inherited cancer risk is not only affected by mutations in key cancer genes - known as oncogenes and tumour suppressor genes - but that variations in the DNA that controls the expression of these genes can also drive the disease.

Led by an international team of scientists, this research sheds new light on why some people develop cancer, while others don't. Understanding how non-coding DNA affects the development of this disease could one day improve genetic screening for cancer risk. And in the future, this could lead to new prevention strategies, or help doctors diagnose the disease earlier, when it is more likely to be treated successfully.

The researchers investigated 846 genetic changes within non-coding stretches of DNA, identified by previous studies as affecting cancer risk. These Single Nucleotide Polymorphisms (SNPs) are particular positions in the human genome where a single letter of the genetic code varies between people.

Unlike mutations in coding DNA, such as BRCA, that are rare but significantly raise a person's risk of developing cancer, non-coding SNPs are relatively common in the population but only slightly increase cancer risk.

The team analysed whether there was a correlation between the presence of a particular SNP and the expression of particular genes. In total, they looked at over 6 million genetic variants across 13 different body tissues.

They found that variations in the regions that regulate the expression of oncogenes and tumour suppressor genes affect cancer risk. The study also revealed that these cancer-risk SNPs tend to be specifically located in regions that regulate the immune system and tissue-specific processes - highlighting the importance of these cellular processes to the development of cancer.

Professor John Quackenbush, lead researcher of the study from Harvard T.H. Chan School of Public Health, said: "What we found surprised us as it had never been reported before - our results show that small genetic variations work collectively to subtly shift the activity of genes that drive cancer. We hope that this approach could one day save lives by helping to identify people at risk of cancer, as well as other complex diseases".

The researchers' next step will be to develop AI models to better predict cancer risk. They also aim to identify 'control centres' that regulate the expression of many genes relevant to cancer development, which could be targeted by new cancer treatments.

Dr Emily Farthing, senior research information manager at Cancer Research UK, said: "While minor genetic changes only have a small impact on cancer risk, the variations analysed in this study are numerous and common in the population. This could begin to explain some of the variation in cancer incidence between individuals and families that cannot be explained through well-known cancer-risk genes or lifestyle factors alone."


For media enquiries contact Thomas Bullen in the British Journal of Cancer press office on 020 3469 5171, or out of hours on 07050 264 059.

Notes to editor:

  • Researchers were based at the following institutes:

  • Genetique Quantitative et Evolution, Le Moulon, Institut National de la Recherche Agronomique, Universite Paris-Sud, Centre National de la Recherche Scientifique, AgroParisTech, Universite Paris-Saclay, France

  • Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, USA

  • Harvard Medical School, Boston, USA

  • Centre for Molecular Medicine Norway (NCMM), Nordic EMBL Partnership, University of Oslo, Norway

  • Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, USA

  • Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, USA

  • Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, USA

About the British Journal of Cancer (BJC)

The British Journal of Cancer is editorially independent of Cancer Research UK. The BJC is one of the most-cited general cancer journals, publishing significant advances in translational and clinical cancer research. It also publishes high-quality reviews and thought-provoking comment on all aspects of cancer prevention, diagnosis and treatment. The BJC is owned by Cancer Research UK and published by Springer Nature.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.