Criteria for genetic testing of BRCA 1, BRCA 2, PALB2, ATM and CHEK2

The Plastic Breast Reconstruction and Breast Care specialist nurses (CNS) run the BRCA 1, BRCA 2, PALB2, ATM and CHEK2 genetic testing service on a Friday afternoon from 1:30pm to 5:00pm at Gate 24, Level 1, Brunel building, Southmead Hospital.

This clinic is specifically for patients who have been newly diagnosed with breast cancer and have met one or more of the following criteria.

Eligibility criteria for BRCA1/2, PALB2, ATM and CHEK2 mainstream testing are:

  • Breast cancer (age < 40 years)
  • Diagnosed with breast cancer in both breasts under the age of <50
  • Triple negative breast cancer under the age of <60 years
  • Have been diagnosed with both breast and ovarian cancer at any age.
  • Breast cancer <45 years and a first-degree relative with breast cancer <45 years
  • Ashkenazi Jewish ancestry and breast cancer at any age
  • Non-mucinous ovarian cancer (including fallopian tube or peritoneal cancer) at any age
  • Male breast cancer any age
  • Pathology-adjusted Manchester score ≥15 or BOADICEA/CanRisk score above ≥ 10%

This is appointment may take up to an hour. This will involve counselling to open discussions on genetic testing, the implications of results and passing information to relatives plus consenting before having genetic testing. During this consultation please do ask any questions.

Once you are happy to continue with the genetic testing, two blood samples will been taken from one for your arms.

Why are two blood samples taken for testing?

  1. The first blood sample will identify if you have a genetic mutation for BRCA1/BRCA 2/PALB2/ATM /CHEK2 breast cancer.
  2. The second blood sample will be stored in a laboratory for testing in the future if any new gene tests become available or new genes found for cancer. Therefore, you will be contacted before any further testing is carried out. Hence, part of your blood sample may be used in developing and standardising genetic tests. This would be used anonymously in research.

The result can take up to 6 weeks to be completed.

Once your results are available, your breast surgeon will be able to discuss your treatment plan with you.

We also offer a phone consultation for patients to answer any concerns before and after your genetic testing. If you have any issues please do call the nurses.

How to contact us:

Gates 24A
Brunel building
Southmead Hospital
BS10 5NB

Plastic Breast Reconstruction team: 0117 44 48 7000

Breast Care team: 0117 414 7018

Email: or

If you or the individual you are caring for need support reading this leaflet please ask a member of staff for advice.

© North Bristol NHS Trust. This edition published March 2023. Review due March 2026. NBT003404

Criteria for genetic testing of BRCA 1, BRCA 2, PALB2, ATM and CHEK2