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Development of risk prediction algorithms for familial breast and ovarian cancer and their use for genetic counselling purposes-Ponder

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.

Submitting Institution

University of Cambridge

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Biological Sciences: Genetics
Medical and Health Sciences: Oncology and Carcinogenesis, Public Health and Health Services

Development and commercial exploitation of a novel diagnostic for early detection of lung cancers

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.

Submitting Institution

University of Nottingham

Unit of Assessment

Clinical Medicine

Summary Impact Type

Technological

Research Subject Area(s)

Medical and Health Sciences: Cardiorespiratory Medicine and Haematology, Oncology and Carcinogenesis, Public Health and Health Services

Re-assessment of Cancer risk in Barrett’s oesophagus.

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.

Submitting Institution

Queen's University Belfast

Unit of Assessment

Public Health, Health Services and Primary Care

Summary Impact Type

Political

Research Subject Area(s)

Medical and Health Sciences: Clinical Sciences, Public Health and Health Services

Development of risk prediction algorithms for familial breast and ovarian cancer

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.

Submitting Institution

University of Cambridge

Unit of Assessment

Public Health, Health Services and Primary Care

Summary Impact Type

Health

Research Subject Area(s)

Mathematical Sciences: Statistics
Biological Sciences: Genetics
Medical and Health Sciences: Oncology and Carcinogenesis

Identifying genes that increase the risk of developing cancer and exploiting these discoveries to enhance patient care and improve public health

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).

Submitting Institution

Institute of Cancer Research

Unit of Assessment

Clinical Medicine

Summary Impact Type

Technological

Research Subject Area(s)

Biological Sciences: Genetics
Medical and Health Sciences: Oncology and Carcinogenesis

Use of aspirin and high dietary fibre to prevent and reduce deaths from bowel and other cancers, influencing global policy on cancer prevention and major public health campaigns (‘five-a-day’)

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.

Submitting Institution

University of Bristol

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Medical and Health Sciences: Oncology and Carcinogenesis

Evidence-based primary care interventions to improve health benefits in cancer care

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.

Submitting Institution

Bangor University

Unit of Assessment

Allied Health Professions, Dentistry, Nursing and Pharmacy

Summary Impact Type

Health

Research Subject Area(s)

Medical and Health Sciences: Clinical Sciences, Public Health and Health Services

Lung cancer research at UCL/UCLH sets standards of care

Summary of the impact

UCL has conducted a series of national lung cancer trials, which have led to wide-scale changes in clinical practice. Two trials compared different platinum based therapies, which led to centres switching from using chemotherapy with cisplatin to carboplatin-based chemotherapy instead. Carboplatin can be given as an outpatient, and has fewer side effects, and has been (and still is) recommended as an alternative to cisplatin in the UK and US.

Submitting Institution

University College London

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Medical and Health Sciences: Oncology and Carcinogenesis

The Prostate Core Mitomic Test: a commercial diagnostic to improve the efficiency of prostate cancer diagnosis

Summary of the impact

A novel test for prostate cancer was developed from research in mitochondrial genetics conducted at Newcastle University. The Prostate Core Mitomic Test was the first of its kind and is now commercially available in North America. It provides molecular evidence to confirm conventional pathology results showing that men identified as being at risk of prostate cancer are, at the time of examination, free of disease. This is an important patient benefit, as conventional pathology has a 30% chance of missing prostate cancer. The Mitomic test obviates the short-term need for a follow-up biopsy, which is an invasive and very uncomfortable procedure. It is also capable of identifying some men at high risk of having prostate cancer that conventional pathology would miss. The test was introduced to the American market in June 2011 and has generated a multi-million dollar investment and turnover.

Submitting Institution

Newcastle University

Unit of Assessment

Biological Sciences

Summary Impact Type

Technological

Research Subject Area(s)

Biological Sciences: Genetics
Medical and Health Sciences: Oncology and Carcinogenesis

Targeted intraoperative radiotherapy at the time of lumpectomy for patients with early breast cancer as an alternative to conventional 3-6 weeks of postoperative radiotherapy

Summary of the impact

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.

Submitting Institution

University College London

Unit of Assessment

Clinical Medicine

Summary Impact Type

Technological

Research Subject Area(s)

Medical and Health Sciences: Oncology and Carcinogenesis

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