Summary of the impact

Research within the Northern Ireland Barrett's oesophagus Register demonstrated that cancer risk in this disease was substantially lower than previously thought. It identified clinico-pathological characteristics and potential biomarkers that allow Barrett's patients to be stratified into those with higher and lower cancer risk. This research has influenced recommendations from Gastroenterological Associations in the UK and USA and resulted in altered clinical practice nationally and internationally, in which costly routine endoscopic surveillance is now targeted to Barrett's oesophagus patients with the highest cancer risk.

Summary of the impact

Basic, clinical and applied research at the University of Cambridge has culminated in a widely-used risk prediction algorithm ("BOADICEA") for familial breast and ovarian cancer. This web-based, user-friendly tool predicts the likelihood of carrying mutations in breast and ovarian cancer high risk genes (BRCA1 and BRCA2), and the risk of developing breast or ovarian cancer. In 2006, BOADICEA was been recommended by the UK National Institutes of Health and Clinical Excellence (NICE: CG41, 2006) and the American Cancer Society (since 2011). In June 2013, NICE recommended BOADICEA in subsequent guidance (CG164). Furthermore, several national bodies have designated BOADICEA as the standard tool to assess eligibility for high risk breast cancer screening.

Summary of the impact

The ICR has a world-leading role in identifying, characterising and clinically exploiting genetic factors that predispose to cancer. This has had a direct and significant impact on public health and patient care; over 250,000 clinical tests for gene modifications that were identified at ICR are performed annually worldwide. Many thousands of families have benefited through optimised treatments for individuals with cancer and improved cancer risk estimation, targeted screening and risk-reducing measures for their relatives. Cancer genes discovered at the ICR include breast cancer genes (BRCA2, CHEK2, BRIP1, PALB2), ovarian cancer genes, (BRCA2, RAD51D, PPM1D), a renal cancer gene (FH) and childhood cancer genes (BUB1B, PALB2, EZH2).

Summary of the impact

Ataxia telangiectasia (A-T) is an inherited disease affecting multiple systems in the body, causing severe disability and death. Work led by Professor Malcolm Taylor at the University of Birmingham has been central to the biological and clinical understanding of this disease, from the identification of the gene responsible to the clarification of related conditions with different underlying causes. As a result of this work, within the 2008-13 period, his laboratory has been designated the national laboratory for clinical diagnosis of A-T — a service also offered internationally — and has also changed national screening policy for breast cancer, following his confirmation of the increased risks of A-T patients and those who carry a single copy of the gene for this type of tumour. Furthermore, he has contributed in a major way to patient support for this condition.

Summary of the impact

Thousands of people across the world with a genetic predisposition (HNPCC) to bowel cancer, together with the population at large, have benefited from research on aspirin and dietary fibre undertaken at the University of Bristol since 1993. Clinical trials involving the Bristol group show that the incidence of bowel cancer has fallen in HNPCC patients who take aspirin. Moreover, aspirin use after diagnosis of bowel cancer has reduced colorectal cancer mortality. Furthermore, a high fibre diet also lowers the risk of bowel cancer. These studies led to national public health initiatives (such as the `five-a-day' campaign) that have been instrumental in increasing public awareness of the importance of aspirin and dietary fibre in reducing the risk of bowel cancer, and in establishing international guidelines on dietary advice.

Summary of the impact

Basic and applied research at the University of Cambridge has culminated in a widely-used risk prediction algorithm ("BOADICEA") for familial breast and ovarian cancer. This user-friendly web-based tool predicts the likelihood of carrying mutations in breast and ovarian cancer high-risk genes (BRCA1 and BRCA2), and the risks of developing breast or ovarian cancer. BOADICEA has been adopted by several national bodies including NICE in the UK (2006 until present), the American Cancer Society and the Ontario Breast Screening Program (both since 2011) for identifying women who would benefit from BRCA1/2 mutation screening, intensified breast cancer screening and chemoprevention.

Summary of the impact

Colorectal cancer is a common disease, which frequently causes death or morbidity, either because of failure to control the primary tumour or failure to prevent distant metastases. Leeds researchers have devised new treatment approaches using chemotherapy and radiotherapy and tested them in large randomised controlled trials which have led to major changes in clinical practice in the management of rectal cancer and advanced colorectal cancer (aCRC), driving clinical decision-making and improving outcomes for patients. This includes better-evidenced treatment for elderly patients and patient stratification on the basis of molecular biomarkers.

Summary of the impact

Research at Queen's University Belfast has led to the successful development and commercialization of a DNA chip technology platform that facilitates the rapid discovery and validation of new diagnostic tests in cancer. A spin out company has been established called Almac Diagnostics that currently employs 85 staff, thereby significantly contributing to the knowledge based economy in Northern Ireland. Almac has used this technology to develop and validate a number of genomic tests that have been successfully licensed to established US based diagnostic companies, thereby securing long term revenue streams. Almac is now recognised internationally as a worldwide industry leader in this area.

Summary of the impact

Research directed by Professor John Robertson at The University of Nottingham led to the launch, in 2009, of the world's first autoantibody blood test for the detection of early-stage lung cancer. The EarlyCDT-Lung test has been commercialised through the spin-out company Oncimmune. [text removed for publication]. EarlyCDT-Lung is now used clinically in North and South America, the UK and the Middle East, generating revenue and saving lives.

Summary of the impact

Bangor University staff (Neal & Wilkinson) are core members of a collaboration whose research since 2003 has had significant policy relevance and impact in the field of primary care oncology. Impact has been made in three areas:

• The role of primary care in the earlier diagnosis of symptomatic cancer; for example by determining the predictive value of symptoms and translating this into Risk Assessment Tools for clinical practice
• The contribution of primary care to cancer follow-up and the management of survivorship; for example by changing practice by illuminating poor care in prostate cancer
• Empowering patients through communication of new cancer-related science in primary care; for example by developing core messages for use in communication about HPV.