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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.
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).
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.
Governments, industry and the public have benefitted from research on the potential role of parabens, which are used widely as preservatives in personal care products, in the development of breast cancer. The research, conducted at the University of Reading since the 1990s, has established the oestrogenic activity of parabens in human cells, confirmed and quantified the presence of parabens in human breast tissue and established that parabens can stimulate the proliferation of human breast cancer cells at concentrations measured in the breast tissue. The findings of this research have received widespread media coverage, which has raised public awareness of the issue. As a result, producers and retailers of natural and organic cosmetic products have benefitted through the adoption of these research findings into marketing information available to their customers. Scientific Committees have used the research findings to inform their opinions on the risk of parabens that have been submitted to the European Commission. As well, non-government organisations have benefitted from having scientific evidence to support their public awareness initiatives and campaigns to invoke change in policy.
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.
Scientists at The Institute of Cancer Research (ICR) have identified a breast cancer susceptibility gene, BRCA2, and advanced the understanding of the function of the BRCA genes. Following the discovery and cloning of BRCA2, further research demonstrated that BRCA mutations are also associated with ovarian, prostate and pancreatic cancers. BRCA testing is now routinely used by health services worldwide to identify those at high risk of developing cancer and advise them on preventative strategies. ICR research showed that magnetic resonance imaging (MRI) was more sensitive than X-ray mammography when screening for tumours in BRCA carriers, and this is now the standard of care in the UK. Through further research on BRCA function, ICR scientists demonstrated that PARP inhibitors were effective in treating breast cancer in mutant BRCA carriers. This has led to the rapid development of poly-ADP-ribose polymerase (PARP) inhibitors as drugs for targeted use against breast and ovarian cancers with a BRCA mutation as well as a recent submission to regulatory authorities for approval and registration in Europe for the use of the PARP inhibitor olaparib for maintenance treatment of BRCA mutated ovarian cancer.
University of Liverpool (UoL) research has characterised patients with pancreatitis at high risk of pancreatic cancer, defining strategies for their management now widespread globally. Clinical and genetic characterisation was conducted through the European Registry of Hereditary Pancreatitis and Familial Pancreas Cancer (EUROPAC), set up by the UoL in 1997 to pioneer secondary screening and trial appropriate management. As a result, it is now widely recommended that patients with a family history of pancreatitis should undergo genotyping and secondary screening, because of their risk of pancreatic cancer.
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:
Research on the relationship between women's working lives, occupational exposures and breast cancer, which uses detailed work histories as a means of identifying toxic exposures, has found there to be an elevated risk for women working in agriculture, bars and gambling environments, as well as automotive plastics manufacturing, food canning, and metalworking workplaces. The influential study has led trade unions, politicians and charities in the United Kingdom and Canada to demand health and safety regulatory changes and further research.
A number of studies have been produced by the multidisciplinary, multinational team, in which Professor Matthias Beck plays a lead role. The main study was published and released to the media in 2012 (Brophy et al. 2012b); so far it has attracted more than 16,000 downloads and over 220 media references.
Research from UCL Division of Surgery has transformed the breast cancer treatment paradigm so women can complete their local treatment intraoperatively (~30 min), with reduced toxicity. Our work has challenged the dogma of giving several weeks of whole breast radiotherapy (EBRT) after lumpectomy for breast cancer with our idea of irradiating only the tumour bed in selected cases; we have developed and evaluated new technology called TARGeted Intraoperative radioTherapy (TARGIT) within the novel approach of risk-adapted radiotherapy. To date, TARGIT has saved 180,000 hospital visits and could save £60M(UK)/ $280M(USA)/year.