Doctor in lab

Major genetic study finds new causes of cancer

A Cambridge University Hospitals (CUH) study has found a ‘treasure trove’ of clues about the causes of cancer, with genetic mutations providing a personal history of the damage and repair processes each patient has been through.

A team of scientists led by Professor Serena Nik-Zaina from CUH and the University of Cambridge analysed thousands of tumours from NHS cancer patients in the biggest study of its kind, which revealed more than 50 new potential causes for cancer.

As a result of analysing the complete genetic make-up or whole-genome sequences (WGS) of the patients the researchers were able to detect patterns in the DNA of cancer or ‘mutational signatures’, that provide clues about whether a patient has had a past exposure to environmental causes of cancer such as smoking or UV light, or has internal, cellular malfunctions.

A total of 58 new mutational signatures were spotted, indicating there could be additional causes of cancer that we don’t fully understand yet.

Serena Nik-Zainal, a professor of genomic medicine and bioinformatics at the University of Cambridge and an honorary consultant in clinical genetics at CUH said: “The reason it is important to identify mutational signatures is because they are like fingerprints at a crime scene - they help to pinpoint cancer culprits. Some mutational signatures have clinical or treatment implications – they can highlight abnormalities that may be targeted with specific drugs or may indicate a potential ‘Achilles heel’ in individual cancers.”

She added: “We were able to perform a forensic analysis of over 12,000 NHS cancer genomes thanks to the generous contribution of samples from patients and clinicians throughout England. We have also created FitMS, a computer-based tool to help scientists and clinicians identify old and new mutational signatures in cancer patients, to potentially inform cancer management more effectively.”

The genomic data needed for the study was provided by the 100,000 Genomes Project, an England-wide clinical research initiative to sequence 100,000 whole genomes from around 85,000 patients affected by rare disease or cancer.

Michelle Mitchell, chief executive of Cancer Research UK, said: “This study shows how powerful whole genome sequencing tests can be in giving clues into how the cancer may have developed, how it will behave and what treatment options would work best.

She concluded: “It is fantastic that insight gained through the NHS 100,000 Genomes Project can potentially be used within the NHS to improve the treatment and care for people with cancer.”

The research, supported by Cancer Research UK and the NIHR Cambridge Biomedical Research Centre, was published in the journal Science.

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