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Utilising cancer susceptibility genetics for early detection and prevention of cancer

Updated: Feb 10, 2020

2020 marks the first year of the five-year, multi-centre, Cancer Research UK-funded CanGene-CanVar program. Through which, investigators from six UK organisations are utilising available data to develop tools and educational resources for cancer variant interpretation, enabling effective, evidence-based screening and prevention of cancer.

Kuchenbaecker et al, JAMA 2017

Inherited cancer genetic variants are changes within individual genes that increase the likelihood of someone developing a cancer. For example, BRCA1 gene variants can lead to increased risk of breast cancer in both women and men, and ovarian cancer in women.

In all cancers there are likely to be common variants that contribute to an increased risk, but in a proportion of cases there are highly penetrant variants that cause a significant risk of developing a cancer. The proportion of which varies between cancer type, but as an example it is estimated around 18% of ovarian cancers are caused by highly penetrant variants compared to 3% of breast cancer cases.

Identifying people with inherited cancer genetic variants can help improve early diagnosis of cancer through regular screening, or prevent cancer through preventative treatment, such as mastectomy (removal of the breast).

However, within each gene there are thousands of potential variants and identifying which of these are pathogenic (cancer-causing) can be challenging due to lack of, or conflicting, evidence. Coupled with a lack of ‘real world’ evidence around the impact of cancer genetic variants and outcomes from preventative measures, there is often disparity in the clinical management of individuals and/or families across the UK who have received cancer genetic testing.

With genomic testing becoming increasingly embedded into routine NHS care, better evidence is required to underpin cancer genetic testing and ensure appropriate clinical management of patients.

Based upon the best available evidence, coupled with analysis of data from both the National Cancer Registry and UK genetics labs (Dr Jem Rashbass, PHE; Prof. Antonis Antoniou, University of Cambridge; Prof. Eva Morris, University of Oxford), CanGene-CanVar will see the development of clinical variant interpretation tools for NHS laboratories (Clare Turnbull, ICR) and clinical guidelines for managing people with inherited cancer genetic variants (Marc Tischkowitz, University of Cambridge).

Further work-packages within the five-year program will focus on education for the wider healthcare community around cancer susceptibility genes (Prof. Kate Tatton-Brown, SGUL); patient-facing tools to aid genetic testing decision making (Prof. Clare Foster, University of Southampton); and analysis of the ethical issues surrounding each of the program areas (Prof. Nina Halowell, University of Oxford).

The output of the CanGene-CanVar program should ensure improved accuracy interpreting results from cancer genetic testing, with more consistent results and subsequent management of patients across the UK healthcare system. Thus allowing efficient and effective use of resources for screening and preventing hereditary cancers.

For more information about the CanGene-CanVar program and the investigators, please visit:


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