Study finds cancer ‘fingerprints’ that lead to targeted treatments

A ‘‘treasure trove’’ of clues about the causes of cancer has emerged from a major study involving more than 12,000 National Health Service cancer patients, scientists said yesterday.

Researchers at the University of Cambridge uncovered 58 new genetic mutations linked to cancer, paving the way for better treatments or even new strategies to prevent the disease.

In the biggest study of its kind, they analysed the complete genetic make-up of thousands of cancer patients, a technique known as whole genome sequencing.

‘‘Whole genome sequencing gives us a total picture of all the mutations that have contributed to each person’s cancer,’’ Dr Andrea Degasperi, a research associate on the project, said. ‘‘With thousands of mutations per cancer, we have unprecedented power to look for commonalities and differences across NHS patients, and in doing so we uncovered 58 new mutational signatures and broadened our knowledge of cancer.’’

In the past decade, new genetic analysis techniques have allowed researchers to identify mutations that can show whether a cancer is linked to factors such as smoking or UV light.

‘‘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,’’ Serena Nik-Zainal, a professor of genomic medicine and bioinformatics and an honorary consultant in clinical genetics at Cambridge University Hospitals, said.

‘‘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.’’

The team has created a computer-based tool that can help scientists and doctors find the mutational signatures in their own patients’ cancers. Nik-Zainal said this could help to match patients to the right clinical trials or identify the most appropriate course of drugs sooner – making treatment more effective and more efficient.

‘‘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,’’ Michelle Mitchell, chief executive of Cancer Research UK, which supported the project, said. ‘‘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.’’

‘‘Mutational signatures are an example of using the full potential of whole genome sequencing,’’ Professor Matt Brown, chief scientific officer of Genomics England, said. ‘‘We hope to use the mutational clues seen in this study and apply them back into our patient population, with the ultimate aim of improving diagnosis and management of cancer patients.’’

The NHS is increasingly using genetic data as part of patients’ treatment. In its Long Term Plan, published in 2019, it said it wanted to be ‘‘the first national healthcare system to offer whole genome sequencing as part of routine care’’. –