We aim to reduce the cancer burden in the East Midlands through improving:
1. Local clinical research into inherited cancer susceptibility and personalised cancer treatments
2. Cancer identification through targeted screening
3. Cancer risk assessment based on family history and environmental risk factors

Research Projects
SNPs: Single Nucleotide Polymorphisms Credits: U.S. Department of Energy Genome Programs (

Breast cancer radiosensitivity, development of biomarkers in breast and prostate cancer, breast screening in NF1 patients, educational projects, genetic causes of infertility, NCRN badged projects and effect of caffeine on pregnancy.

1. Determination of Cardiac Damage 6 weeks and one year post radiotherapy using cardiac MRI and correlation of results to in vitro markers of biological ageing. The benefit of improved breast cancer survival following radiotherapy is offset by a 30% increase in cardiovascular deaths following radiotherapy. We have shown previously that apoptotic response to irradiation in peripheral blood lymphocytes (PBL) fell by an average of 15 % in 12 breast cancer patients when the assay was repeated again one-year post radiotherapy.  We aim to establish if radiotherapy has detrimental effects on cardiac function in association with biological ageing in 12 breast cancer patients receiving radiotherapy.

2. Genotype/phenotype correlation analysis studying the effects of breast cancer radiotherapy on local tissue complications

3. Several of the genes important in meiotic recombination and male infertility also have a role in DNA mismatch repair. Germline mutations in MLH1 in particular are associated with an autosomal dominant bowel cancer susceptibility syndrome, HNPCC. This is partially diagnosed based on the number of affected family members. We would like to determine if azoospermia in males with germline mutations in MLH1 results in missed diagnosis due to smaller families.

4. Identification of genomic rearrangements using paired end mapping to develop urine based early prostate cancer screening with gene fusion PCR/MLPA assays.

5. National lead for prospective breast cancer risk study in women with neurofibromatosis type 1 (22 centres agreed to participate with 1000 patients).

6. Educational outreach project, HERO. HERO is a GENIE (Genetics Education Networking for Innovation and Excellence) project developed in collaboration with and jointly funded by the NIHR CLAHRC-LNR as part of our remit to implement projects that improve health and evaluate the best practical approaches to deliver lifestyle outreach messages.

7. MY DIET: GENIE, Macmillan and the Clinical Genetics department at the Leicester Royal Infirmary are developing a new project called MY DIET (Macmillan working with Your Dietary needs to Improve Education on prevention of Tumours).  This is an educational opportunity for patients seen in clinical cancer genetics appointments to attend interactive educational workshop with their families to discuss how they can reduce familial cancer susceptibility.

8. Investigation into attitudes relating to cancer chemoprevention: This is a questionnaire based project designed to investigate peoples’ attitudes towards cancer chemoprevention. Four groups will participate in the project: university students, patients who have been diagnosed with cancer, their relatives and people with a high familial risk of cancer. At present data on peoples’ attitudes to cancer chemoprevention interventions is extremely limited.

9. Developing on-line genetic counselling aids for patients attending clinical genetics appointments.

10. NCRN badged studies- Familial prostate gene identification and screening (FPS and IMPACT), familial CLL gene identification, ovarian screening for women with a significant family history (UKFOCSS), Familial Breast Cancer Gene Identification (FBCS) and Epidemiological Study of Familial Breast Cancer (EMBRACE).

11. Development of plasma markers in common cancer (PMiCC) project. This will assess potential breast cancer metastatic plasma marker profiles in women with a personal and/or a family history of breast cancer.

12. Effects of caffeine on pregnancy outcomes by measuring chromosomal rearrangements in Guthrie cards to look for evidence of pre-leukaemic changes.


Research Links

Search PubMed at the US National Library of Medicine for this author: Dr J. Barwell
Search Leicester Research ArchiveDr J. Barwell
Search Google ScholarDr J. Barwell



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Contact Details

Department of Genetics
University of Leicester

Adrian Building
University Road
United Kingdom

Tel: +44 (0)116 252 3374
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Head of Department
Professor Jacqui Shaw

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