Guidance

Tests and frequency of testing for women at very high risk

Updated 27 September 2024

Applies to England

Breast cancer (BRCA) gene 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 [footnote 1], but have a first degree relative who has a BRCA1 or BRCA2 genetic mutation
  • women who have a mutation in another high-risk gene including [footnote 2]:
    • PALB2
    • PTEN
    • STK11
    • CDH1 (E-Cadherin)
Age Test Frequency of testing
25 to 29 (see note) Magnetic resonance imaging (MRI) Annual
30 to 39 MRI Annual
40 to 50 MRI and mammography Annual
51 to under 71 Mammography with or without MRI (based on review of background density from 50 years) Annual

Note: 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 29 years). This applies to BRCA carriers and PALB2 only.

Women with TP53 (Li-Fraumeni) syndrome

Age Test Frequency of testing
20 to under 71 MRI Annual

No mammography tests for this group of women.

Women with A-T homozygotes

Age Test Frequency of testing
25 to under 71 MRI Annual

No mammography tests for this group of women.

Women who have had radiotherapy to breast tissue

Females irradiated between ages 0 and 9 years

Testing is not applicable to these females.

Females irradiated between ages of 10 and 19

Age Test Frequency of testing
25 to 29 (see note) MRI Annual
30 to 39 MRI Annual
40 to 50 MRI and mammography Annual
51 to under 71 Mammography with or without MRI (based on review of background density from 50 years) Annual

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

Females irradiated between ages of 20 and 35

Age Test Frequency of testing
30 to 39 (see note) MRI Annual
40 to 50 MRI and mammography Annual
51 to under 71 Mammography with or without MRI (based on review of background density from 50 years) Annual

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

  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, a letter from an NHS geneticist confirming the presence of a pathogenic variant stating the affected gene is required.