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Example clinical scenario

A 48-year-old woman presents with a breast lump and is diagnosed with a fibroadenoma. She is very concerned about her risk of breast cancer as her mother died of breast cancer at the age of 49. She is subsequently referred to the local breast service family history clinic. You are considering if genomic testing is available and appropriate for her.

When to consider genomic testing

Constitutional (germline) testing

  • Women with a family history of breast cancer but no personal history of breast cancer are eligible for constitutional (germline) genomic testing of BRCA1, BRCA2PALB2, RAD51C, RAD51D, ATM (truncating variants and c.7271T>G only) and CHEK2 genes (truncating variants only) if they meet at least one of the following criteria:
    • first-degree relative affected by breast or serous ovarian cancer;
    • no living affected individual is available for genomic testing; and
    • no deceased affected individual with tumour material is available for testing; and
    • pathology-adjusted Manchester score ≥20 or CanRisk score ≥10% (for the unaffected relative). (These tools can be used to calculate risks. If you are not confident to do so, seek support from your local clinical genetics service.)

Somatic (tumour) testing

  • No somatic (tumour) testing is available for this patient, as there is no personal history of cancer.
  • Testing on tumour-derived DNA would be appropriate in the scenario of a patient with a significant family history of breast cancer with a deceased affected individual from whom stored tumour material is available for testing.

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 patients with a family history of breast cancer the options are:
    • R208 (inherited breast cancer and ovarian cancer): This tests for constitutional (germline) mutations in BRCA1, BRCA2PALB2, ATM* and CHEK2* (*truncating variants only).
    • R386 (BRCA1 and BRCA2 somatic test): Where there is no living affected individual available to test, but tumour material is available from a deceased affected individual.
  • A record of discussion (RoD) form is required prior to 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 DNA-based tests (all the above listed tests), an EDTA 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

Tagged: Family history, Breast cancer

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  • Last reviewed: 28/03/2023
  • Next review due: 28/03/2024
  • Authors: Dr Helen Hockings
  • Reviewers: Dr Ellen Copson, Dr Amy Frost, Dr Terri McVeigh