Presentation: Patient with male breast cancer

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.

Constitutional (germline) testing

• Men with breast cancer (primary or metastatic) diagnosed at any age are eligible for constitutional (germline) testing of the BRCA1, BRCA2, PALB2, RAD51C, RAD51D, ATM* 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.

• 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 BRCA1, BRCA2, PALB2, ATM* 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):
  • Single gene sequencing
  • Gene panel sequencing
  • MLPA
• 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.
• Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

For clinicians

• Mainstreaming Cancer Genetics: BRCA toolkit
• NHS England: National Genomic Test Directory and eligibility criteria (note that somatic (tumour) tests are listed in the directory for cancer, while constitutional (germline) tests are listed in the directory for rare and inherited disease)
• NICE: Guidance on genetic testing for patients with breast and ovarian cancer

For patients

• Breast Cancer Now: ‘Family history of breast cancer: managing your risk’ booklet
• Cancer Research UK: Inherited breast cancer information
• Macmillan: Breast cancer in men information
• Macmillan: Inherited breast and ovarian cancer information