Guidance

Tests and frequency of testing for women at very high risk

Updated 8 July 2019

1. BRCA carriers and equivalent risks

This group of women at very high genetic risk of developing breast cancer includes:

  • BRCA1 carriers
  • BRCA2 carriers
  • risk equivalent to BRCA carriers
  • not tested 1, but have a first degree relative who has a BRCA 1 or BRCA2 genetic mutation
  • women who have a mutation in another high risk gene including:
    • PALB2
    • PTEN
    • STK11
    • CDH1(E-Cadherin)
Age Test Frequency of testing
25 to 29 2 MRI Annual
30 to 39 MRI Annual
40 to 49 MRI + mammography Annual
50 to 70 Mammography +/- MRI 3 Annual

2. Women with TP53 (Li-Fraumeni) syndrome

Age Test Frequency of testing
20 to 70 MRI Annual

No mammography tests for this group of women.

3. Women with A-T homozygotes.

Age Test Frequency of testing
25 to 70 MRI Annual

No mammography tests for this group of women.

4. Women who have had radiotherapy to breast tissue

4.1 Females irradiated below the age of 10 years

Testing is not applicable to these females.

4.2 Females irradiated between ages of 10 and 19

Age Test Frequency of testing
25 to 70 MRI Annual

Surveillance starts at 25 or 8 years after first irradiation, whichever is the later.

4.3 Females irradiated between ages of 20 and 29

Age Test Frequency of testing
30 to 39 4 MRI Annual
40 to 49 MRI and mammography Annual
50 to 70 5 Mammography +/- MRI Annual

4.4 Females irradiated between ages of 30 and 35

These women should be referred by GP to local mammography service (non-NHS Breast Screening Programme) as they do not reach the very high risk threshold). Breast screening After Radiotherapy Dataset (BARD) will inform GPs about the need for this and the timing.

  1. Screening for untested women will stop at 50 years. After that, testing will be required to continue in the very high risk screening programme. 

  2. To qualify for screening under 30 years, women must also have an 8%, 10-year risk at the age when entered (when aged 25 to 30 years) 

  3. Review MRI annually on basis of background density from 50 years. 

  4. Surveillance starts at 30 or 8 years after first irradiation, whichever is the later. 

  5. Review MRI annually on basis of background density.