Dr Sarah Taylor, GatewayC GP Lead, speaks to Dr Fiona Lalloo, Consultant Clinical Geneticist, about cancer genetics.
The National Genomic Test Directory lists the referral criteria for genetic testing for patients
who are concerned about a family history of cancer
Factors which increase the probability of a germline mutation are:
Many cancers are environmental, but 5-10% of cancers have a germline mutation.
There are some cancer syndromes which have specific clusters of cancer types.
Genomic testing in Wales
While the National Genomic Test Directory is owned, controlled and maintained by NHS England, the Welsh Health Specialised Services Committee (WHSSC) approve funding of genomic testing in line with the criteria identified in the Test Directory and implementation of these tests is being clinically prioritised in collaboration with a range of clinicians through the All Wales Medical Genomics Service.
Hereditary prostate cancer accounts for about 5-9% of newly diagnosed prostate cancer cases. There are a number of pathogenic germline mutations associated with increased risk of developing prostate cancer, including BRCA2, Lynch syndrome (MSH2, MSH6), ATM, and Li Fraumeni syndrome.
There is a greater risk of developing prostate cancer amongst Black males and Ashkenazi Jews. Studies suggest that a number of genetic mutations in Black men predispose them to this disease and that Ashkenazi Jews are more likely to carry the BRCA genes linked to increased risk.
Family history of prostate cancer and associated cancers such as breast, ovarian and pancreatic impact on risk. The risk increases in line with the number of first-degree relatives (FDR) that have been diagnosed with these cancers, particularly at a younger age of diagnosis.
Current guidelines from the UK National Screening Committee advise that there is no role for population screening for prostate cancer with PSA tests. While patients can request a PSA test, primary care professionals should discuss the pros and cons of screening with the patient.
National guidelines for high genetic risk groups are yet to be developed.