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PMPRC: Precision medicine in the prostate cancer care pathway

An evaluation of integrating germline genetic testing into the management of men at risk of / living with prostate cancer.

Project objectives and plan

This study seeks to identify how often we see germline gene mutations (gene mutations people are born with) in men with prostate cancer. This study will evaluate the clinical impact of the genetic test on risk assessment and clinical management in terms of screening and treatment.

We are looking at two types of mutation:

1. We are looking at very rare mutations in a panel of genes called “DNA repair genes” whose normal role is to mend DNA damage. When mutated, these genes do not effectively mend DNA damage and cancers can occur.

2. We are interested in very common genetic changes that occur in everyone. We are able to look at certain changes specifically linked to prostate cancer and calculate a ‘risk’ score to see  whether a person’s ‘risk’ matches what has happened to them already, or what will happen to them in the future, in terms of prostate cancer.

We are recruiting two cohorts of high-risk men:

(i) 1000 men with prostate cancer (diagnosed at a young age or with a strong family history) or with advanced disease


(ii) 1000 men at risk of prostate cancer with a strong family history of prostate cancer (unaffected)


(i) AFFECTED – 1000 men with prostate cancer

1. Affected with PrCa diagnosed age 70 or younger

2. Affected with metastatic castration resistant PrCa (mCRPC) at any age

3. Affected with PrCa and a family history defined as

(ii) UNAFFECTED - 1000 men who have not been diagnosed with prostate cancer

Aged 30 years or over and with a family history defined as:

a) First Degree relative diagnosed at 70 years or younger
b) 2 or more cases in First or Second Degree Relatives with one case diagnosed at 70 years or younger.
c) 3 or more cases at any age (on same side of family)

Secondary aims of the study include

1. To determine how these genetic changes influence clinical outcome and management of:

a) men with Prostate cancer;
b) unaffected men at risk of prostate cancer;
c) wider family members

2. Evaluate the potential future use of genetic testing in men with prostate cancer as a standard part of their oncological management.

3. To understand the counselling and information needs of men undergoing testing


Eligible men are being identified and approached from uro-oncology clinics at The Royal Marsden Hospital. Men are undergoing genetic counselling and genetic testing (from donation of either a blood or saliva test for DNA testing) and will be provided with personalised information about their future risk of prostate cancer (for those men who are unaffected) and/or information about any germline genetic mutations identified in their DNA and the clinical implications of those mutations. 

The psychological impact and counselling and information needs of men taking part in the study will be investigated through questionnaires and interviews with study participants.

The genetic testing will be carried out by:

1. Looking for rare disease-causing mutations in approximately 150 genes. This will be carried out using a gene panel test which was developed by Prof Eeles’ team at the Institute of Cancer Research, and manufactured by Agilent Technologies for the sole use of the ICR Oncogenetics team within their research portfolio.

2. Looking at common genetic changes in approximately 200 genes linked with risk of prostate cancer in order to calculate a prostate cancer ‘risk score’. This test is being done by Prof Eeles’ ICR research team in collaboration with Eureka Genomics who have developed a test specifically for our use.

Any men identified at high risk based on their risk score or those who have a rare disease-causing gene mutation will be given the results by a trained genetics specialist nurse. The nurse will explain how their genetic risk might affect screening and/or treatment in the future as well as provide genetic counselling about any implications for family members, as appropriate.

If you are interested in this study please contact [email protected] or 020 8722 4483