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Example clinical scenario

A 62-year-old man is diagnosed with a grade 3 ER-negative, PR-negative and HER2-positive breast cancer. There is no evidence of metastatic disease. There is no family history of breast or ovarian cancer. You wish to undertake genomic testing and are considering what constitutional (germline) and somatic (tumour) genomic testing is available and appropriate for him.

When to consider genomic testing

Constitutional (germline) testing

  • Men with breast cancer (primary or metastatic) diagnosed at any age are eligible for constitutional (germline) testing of the BRCA1BRCA2PALB2ATM* and CHEK2* genes (truncating variants only).

Somatic (tumour) testing

  • Somatic (tumour) testing of HER2-positive primary breast cancers is currently not routinely available.
  • Tumour profiling tests of ER-positive, HER2-negative breast tumours have not been validated in males.
  • Other somatic testing of primary breast cancers may be available within clinical trials.
  • In the future, somatic testing is likely to be available and expanded to include larger somatic gene panels. Ultimately, paired somatic (tumour) and constitutional (germline) whole genome sequencing will be performed.

What do you need to do?

  • Consult the National Genomic Test Directory eligibility criteria to ensure your patient is eligible for testing. You can also refer to this spreadsheet of all available tests.
  • For information on the genes that are included on different gene panels for constitutional (germline) testing, see the NHS Genomic Medicine Service signed-off panels resource.
  • For germline testing of patients affected with breast cancer, the panel to request is:
    • R208: This tests for constitutional (germline) mutations in BRCA1BRCA2PALB2ATM* and CHEK2* genes (*truncating variants only).
  • A record of discussion (RoD) form is required for constitutional (germline) tests. If you have not completed an RoD form before and/or do not have access to one, please review this Knowledge Hub article on how to complete an RoD form.
  • Depending on the details you provide and the test that is chosen, a range of different genomic investigation techniques will be applied to your patient’s/their family’s (if appropriate) DNA. These tests include (but are not restricted to):
  • For constitutional (germline) DNA-based tests (all the above listed tests), an EDTA blood sample is required. Please refer to your local Genomics Laboratory Hub for details of test request forms and where to send samples.


For clinicians

Tagged: Breast cancer

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  • Last reviewed: 03/05/2022
  • Next review due: 03/05/2023
  • Authors: Dr Ellen Copson
  • Reviewers: Dr Amy Frost, Dr Terri McVeigh