Research | Genomics England

Current projects approved for access to the 100,000 Genomes Project data set.

Only specific staff within the groups or organisations listed below will have access.

Cancer is a genetic disease. It is caused by changes to DNA that control the way our cells function, especially how they grow and divide. The exact changes affect various characteristics of a tumour. As a cancer grows, new changes occur and a tumour becomes a mix of different cells – or a “population” – all with different characteristics. Find out more about the genetics of cancer.

That’s why we’re looking at cancer in the 100,000 Genomes Project; to understand cancer genomes better and try to improve diagnosis, prognosis and treatment for cancer patients. Read more.

Skip to groups approved for access to the data

More about cancer

Cancer starts in our cells. Cells are tiny building blocks that make up the organs and tissues of our body. We have about 10 trillion cells in our bodies.

Normally, cells grow and divide to form new cells as the body needs them. When cells grow old or become damaged, they die and new cells take their place. But when cancer develops, this orderly process breaks down. Old or damaged cells survive when they should die, and new cells form when they are not needed. These extra cells can divide without stopping, and may form tumours.

Cancerous tumours are malignant. This means they can spread into, or “invade”, nearby tissues. As tumours grow, some cancer cells can break off and travel to distant places in the body. They can form new tumours far from the original tumour, called metastases.

Research questions in cancer GeCIP domains

The different cancer GeCIP domains will focus on the same questions, tailored to cancer in their particular area.

Subtype identification – can we use the DNA sequence from the tumour, and changes to that DNA, to better classify the tumour type? Can we use this to better identify a tumour, beyond where it is and what the cells look like through a microscope?

Tumour evolution – by looking at changes that have happened in the tumour’s DNA, can we more accurately spot tumours likely to spread and create metastases elsewhere in the body?

Response to treatment – can we identify changes in DNA that are important in determining whether or not the tumour will respond to the standard courses of treatment?

Alternative, ‘off label’ treatment – are there changes to DNA in tumours that mean medicines usually used for a one tumour type, could also be effective in another?

Inherited drivers – are there changes in ‘normal’ DNA that put that person more at risk of cancer in the future?

DNA and Environment interactions – do environmental or lifestyle factors interact with changes in the DNA? Are there changes in the DNA that will only cause cancer if that person is also a heavy smoker, or is exposed to a lot of UV light?

Liquid biopsy – Can we use the small amount of tumour DNA released into the blood as cancer cells die, to get an insight into what is happening in tumours throughout the body?

Groups approved for access

The crosscutting GeCIP domains will be undertaking research that is not focused on a particular disease area. Instead their research will cut across all disease areas, looking at participant data from across the Project – for example to understand the history of genetic mutation, recombination and genetic drift in the population (Population Genomics GeCIP domain) and to develop new therapies and clinical trials (Stratified Healthcare and Therapeutic Innovation GeCIP domain).

Rare diseases are individually very uncommon, each affecting less than 5 in 10,000 of the general population. However, because there are between 5,000 and 8,000 of them, a surprisingly large number of people are affected in total – 3 million – or, put another way one in 17 (or 6–7%) of the UK population.

Genomics has great potential for patients with a rare disease because they are strongly linked to changes in the genome. At least 80% of rare diseases are genomic, with half of new cases found in children. Knowledge of the whole genome sequence may identify the cause of some rare diseases and help point the way to new treatments for these devastating conditions – vital progress given that some rare diseases take two or more years just to identify. As most rare diseases are inherited, the genomes of the affected individual (usually a child) plus two of their closest blood relatives have been included to pinpoint the cause of the condition.

There are over 8000 rare diseases and we can’t include them all. The ones chosen represent those that were nominated as part of our pilot phase, for which there was unmet need (for instance, there is a proportion with no known genetic diagnosis) and those for which genome sequencing may offer the best opportunity to better understand the disease. Over 190 rare diseases are currently included in the 100,000 Genomes Project. People invited to take part will be thought to have one of these conditions. A full list of rare diseases included in the Project is available here.

Research in rare disease GeCIP domains

These domains will be working to identify new gene variants associated with disease, understand risk associated with susceptibility genes and studying disease mechanism in order to better diagnose and treat rare diseases