Research projects

Tipping the scales: How a genetic mutation makes cells unstable

Researcher

Dr Diego Pasini

Project period

April 2022 - March 2025

Country

Research Institute

European Institute of Oncology (IEO)

Cancer types

General cancer research

Award amount

£186,000

Project aim

Dr Diego Pasini and his team are trying to understand why a mutation to a gene called BAP1 makes some cancers more likely to develop. They hope that understanding how this mutation affects the normal function of the gene will help to identify new ways of treating the cancers it causes.

Hope for the future

All types of cancer are ultimately caused by the build up of genetic mutations that cause cells to grow uncontrollably. Recent technological advances have made it possible to find out specifically which mutations have occurred to cause a single patient’s cancer. However, in many cases we do not know exactly how each mutation contributes to the development of cancer.

Mutations to the gene BAP1 are known to lead to several types of cancer, including some types of mesothelioma, melanoma, and carcinoma. Dr Pasini and his team have been studying the role of BAP1 in healthy cells, including how it helps to prevent cancer occurring. The researchers now aim to understand what happens when BAP1 does not work as it should, in the hope of finding new therapeutic targets for patients with cancers caused by BAP1 mutation.

Meet the scientist

Dr Diego Pasini is Group Leader of the Epigenetic Mechanisms in Cancer group at the European Institute of Oncology.

The science

Recent advances in technology have made genome sequencing relatively easy, meaning it is possible to find out which specific mutations are behind an individual’s cancer. Some researchers believe that if patients were categorised by these mutations, and the changes within cancer cells they cause, it may be possible to personalise treatments in a new targeted way. However, in many cases we still don’t understand how a mutation linked to cancer actually causes the disease.

Dr Pasini and his team have been studying how the gene BAP1 works in healthy cells, and how it helps to turn other genes on or off. Recently they found that if BAP1 doesn’t work as it should, other genes become activated that shouldn’t be, and some activity in the cell becomes unbalanced. The researchers are now working to understand how the normal functions in a cell change when BAP1 is mutated and doesn’t work properly. They will use cancer cells which don’t have a functioning BAP1 gene to find out what changes occur, and whether any of these changes could be new targets for cancer therapies.

The 26 projects we’re funding in 2022 cover 10 different types of cancer, as well as 6 projects that could kick-start new cures for a range of cancers.