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Pioneering work on mutational signatures of cancer wins University of Cambridge’s Serena Nik-Zainal the 2021 Foulkes Medal



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The University of Cambridge’s Professor Serena Nik-Zainal has won the 2021 Foulkes Foundation Academy of Medical Sciences Medal for her work to identify the ‘fingerprints’ of tumours, writes Paul Brackley.

Her research is helping the drive to more personalised, effective treatment for cancer patients.

Prof Serena Nik-Zainal is a Cancer Research UK advanced clinician scientist at the MRC Cancer Unit and honorary consultant in clinical genetics at Addenbrooke's Hospital. Picture: Keith Heppell
Prof Serena Nik-Zainal is a Cancer Research UK advanced clinician scientist at the MRC Cancer Unit and honorary consultant in clinical genetics at Addenbrooke's Hospital. Picture: Keith Heppell

The prestigious medal is awarded biennially to a rising star in biomedical research for contributing significant impact to the field before or in their first independent position.

Prof Nik-Zainal, of the MRC Cancer Unit, said: “I am truly thrilled to have won this prestigious award from the Foulkes Foundation and the Academy of Medical Sciences. To have my team and me recognised for our efforts to improve outcomes for cancer patients through studying their cancer’s DNA is an honour.”

While researching for her PhD, Prof Nik-Zainal and colleagues discovered and characterised mutational signatures – the specific pattern of genetic mutations in different tumours. It opened up a new field of study that enabled the causes of cancers, such as tobacco smoke or UV light, to be identified from a tumour’s DNA.

Mutations present in whole genome cancers as seen in patients. three have environmental exposures: smoking, UV-damage and aristolochic acidtwo have internal sources of DNA damage: BRCA1 and Lynch Syndrome (MLH1)one has pink pattern but the source is unknown. Picture: University of Cambridge
Mutations present in whole genome cancers as seen in patients. three have environmental exposures: smoking, UV-damage and aristolochic acidtwo have internal sources of DNA damage: BRCA1 and Lynch Syndrome (MLH1)one has pink pattern but the source is unknown. Picture: University of Cambridge

In recent years, she has pioneered research into the clinical applications of mutational signatures, leading to the development of an algorithm that can detect specific breast cancers through their mutational signature. It is able to pick up those missed by conventional screening methods.

Recently, she has shown the algorithm’s potential to predict the most effective treatment for these patients, by taking it through a phase II clinical trial in collaboration with colleagues and industry.

In April, she led the development of a second pioneering algorithm, used to spot the patients who may respond well to certain drugs that allow their own immune systems to attack their cancer.

Trained to find the mutational signature that occurs in these specific cancers, the algorithm helps to find the most effective treatment for patients.

Maureen Foulkes-Hajdu, executive chairman of the Foulkes Foundation, described Prof Nik-Zainal as “a ground-breaking scientist in the field of personalised medicine for cancer patients”.

She said: “Serena has pushed her research from fundamental concepts all the way through to life-saving implications for patients, and I am excited to see where her work leads next.”

Prof Nik-Zainal, a Cancer Research UK advanced clinician scientist at the MRC Cancer Unit and honorary consultant in clinical genetics at the Addenbrooke’s, is also championing data sharing and leading a project to develop the tools and infrastructure for large-scale, national clinical application of mutational signature research.

Prof Serena Nik-Zainal discussing research with a colleague. Picture: Keith Heppell
Prof Serena Nik-Zainal discussing research with a colleague. Picture: Keith Heppell

Prof Dame Anne Johnson PMedSci, president of The Academy of Medical Sciences, said: “The medal recognises the significant work of young, innovative biomedical researchers. This year’s winner, Prof Nik-Zainal, has made exceptional contributions to cancer research, putting together a cross-disciplinary team who work to ensure their research can deliver direct benefits for patients.

“The tools Serena has created – and shown the effectiveness of in patients – have profound implications for the future of cancer diagnostics and treatment. I am inspired by her drive to enable equitable access to genomic data, whilst communicating this clearly to the public.”

Thanks to the 100,000 Genome Project sequencing the genomes from people all over the country, Prof Nik-Zainal is able to apply her algorithms to cancers the project picks up, learning about their causes by examining their mutational signatures. This could lead to more targeted therapies.

“Seeing the people that have used our algorithm and benefited from treatments they wouldn’t have known they needed; that’s what makes me want to keep pushing to take my work through further clinical trials and hopefully one day into general use,” she said. “Showing that fundamental science really can improve the diagnosis and treatment of cancer by personalising it is incredible. What inspires me daily is the human impact of my work and seeing the lives that have been saved.”

She will receive the medal and a cash prize at the Academy of Medical Sciences’ AGM on December 7, where she will deliver a lecture on her research to the academy’s fellowship.

The Foulkes Foundation was established in 1972 by Dr Ernest Foulkes to promote medical research, the training of scientists and the study of medicine.

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