Ask to take part

Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.

Contact Information:

Dr Marc Tischkowitz
+44 1223 216446
mdt33@medschl.cam.ac.uk


Ms Nichola Fennell
+44 1223 216446
nf381@medschl.cam.ac.uk


Study Location:

Find another location


Questions to ask
Skip to Main Content
English | Cymraeg
Be Part of Research - Trial Details - Assessing the impact of personalised risk estimates on the uptake and timing of risk management options in women who have inherited a change in genes associated with an increased risk of breast and ovarian cancer
Back

Assessing the impact of personalised risk estimates on the uptake and timing of risk management options in women who have inherited a change in genes associated with an increased risk of breast and ovarian cancer

Recruiting

Open to: Female

Age: Adult

Nottingham Cambridge Leeds Manchester London Leicester Cambridge London Southampton Oxford Exeter Birmingham Liverpool Palo Alto CA London

Medical Conditions

Hereditary breast and ovarian cancer

This information is provided directly by researchers and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information.


Women with disease-causing gene changes (faults/mutations) in BRCA1, BRCA2, PALB2, CHEK2 and ATM are at an increased risk of developing certain types of cancer - specifically breast (all genes) and epithelial ovarian cancer (BRCA1, BRCA2, PALB2 only). At present, the risk estimates given by most health practitioners to women are broad (e.g. 35-85% lifetime risk of breast cancer for BRCA1 and BRCA2) and are not personalised. This can make it difficult for women to make informed decisions regarding risk management options available to them. By combining information about genetic, lifestyle and hormonal risk factors, we can produce a narrower, more personalised risk estimate (e.g. 44% lifetime risk of breast cancer). In this study we aim to test whether offering personalised risk estimates to women undergoing predictive testing in genetics centres in the UK and USA better supports women’s mental health and choices about their clinical care, relative to standard care. In addition, we will explore the experiences of both staff and women taking part in the study to understand whether personalised risk estimates are acceptable, feasible and cost-effective for use in clinical care.

Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.  

The recruitment start and end dates are as follows:

01 May 2022 31 Dec 2025

Publications

2022 Protocol article in https://doi.org/10.3390/cancers14112716 (added 21/06/2022)

Genetic testing will be performed in the usual way. If the test shows that the participant has inherited the gene change, they will be randomly allocated to have a standard risk estimate or the “personalised” risk estimate, using a risk prediction tool called CanRisk. If they are allocated to the “personalised” arm, we will do some additional genetic testing on the blood sample the patient gave to look at the hundreds of small genetic alterations and provide them with a combined risk estimate, called a Polygenic Risk Score (PRS). Both groups will be asked to complete some questionnaires. This would include one questionnaire before their clinical genetics appointment, followed by three more “follow-up” questionnaires after they receive their genetics result. Participants may be invited to give an interview with one of the research team. In this research study we will use information from the participant, their medical records, their GP and from NHS Digital. We will only use information that we need for the research study. Everyone involved in this study will keep participant data safe and secure following all privacy rules.


Women who are referred to the Genetics department to discuss “predictive” genetic testing are eligible for this study. Predictive genetic testing is when a relative has been found to have a gene fault, and a family member wishes to see if they also carry the same gene change. To participate, women must be over the age of 18 and able to give informed consent. A woman is not able to take part in this study if she has had a previous diagnosis of breast or ovarian cancer.

You can take part if:



You may not be able to take part if:


Previous history of breast cancer or ovarian cancer


Below are the locations for where you can take part in the trial. Please note that not all sites may be open.

  • Nottingham University Hospitals NHS Trust
    Trust Headquarters Queens Medical Centre Derby Road
    Nottingham
    NG7 2UH
  • Cambridge University Hospitals NHS Foundation Trust
    Cambridge Biomedical Campus Hills Road
    Cambridge
    CB2 0QQ
  • Leeds Teaching Hospitals NHS Trust
    St. James's University Hospital Beckett Street
    Leeds
    LS9 7TF
  • Manchester University NHS Foundation Trust
    Cobbett House Oxford Road
    Manchester
    M13 9WL
  • Guy's and St Thomas' NHS Foundation Trust
    St Thomas' Hospital Westminster Bridge Road
    London
    SE1 7EH
  • University Hospitals of Leicester NHS Trust
    Leicester Royal Infirmary Infirmary Square
    Leicester
    LE1 5WW
  • Addenbrookes
    Addenbrookes Hospital Hills Road
    Cambridge
    CB2 0QQ
  • Great Ormond Street Hospital for Children
    Great Ormond Street
    London
    WC1N 3JH
  • University Hospital Southampton
    Southampton University Hospital Tremona Road
    Southampton
    SO16 6YD
  • Oxford University Hospitals
    John Radcliffe Hospital Headley Way Headington
    Oxford
    OX3 9DU
  • Royal Devon and Exeter Hospital
    Royal Devon & Exeter Hospital Barrack Road
    Exeter
    EX2 5DW
  • Birmingham Women's NHS Foundation Trust
    Birmingham Womens Hospital Metchley Park Road
    Birmingham
    B15 2TG
  • Liverpool Women's NHS Foundation Trust
    Liverpool Womens Hospital Crown Street
    Liverpool
    L8 7SS
  • Canary Center at Stanford for Early Cancer Detection
    3155 Porter Drive
    Palo Alto CA
    94305
  • St George's University Hospitals NHS Foundation Trust
    Blackshaw Rd
    London
    SW17 0QT

The participant will receive a different risk estimate depending on which group of the study they are randomised to. This could involve additional analysis than the standard genetic test (the analysis will be done on the same blood sample they gave for genetic testing). Our aim is to study how these differences affect the participant’s subsequent decisions regarding their medical management. There is no direct benefit to the participant. However, by taking part in our research study participants will potentially be helping future generations of women with these gene changes. We will publish our findings on our website and/or in a newsletter.

We will use the sample blood sample as the one given for the clinical genetic test. No additional blood test will be required. There are no medical risks in taking part.

Ms Nichola Fennell
+44 1223 216446
nf381@medschl.cam.ac.uk


Dr Marc Tischkowitz
+44 1223 216446
mdt33@medschl.cam.ac.uk



The study is sponsored by Cambridge University Hospitals NHS Foundation Trust; University of Cambridge and funded by Cancer Research UK.



We'd like your feedback

Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.


Is this study information helpful?

What will you do next?
Read full details for Trial ID: ISRCTN15331714

Or CPMS 48658

Last updated 29 April 2024

This page is to help you find out about a research study and if you may be able to take part

You can print or share the study information with your GP/healthcare provider or contact the research team directly.   

Back to the top