Guidance

Tests and frequency of testing for women at very high risk

Updated 29 April 2025

Applies to England

Breast cancer (BRCA) gene carriers and equivalent genetic proven risks

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

  • BRCA1 carriers

  • BRCA2 carriers

  • PALB2

Age  Test Frequency of testing
25 to <40    Magnetic resonance imaging (MRI      Annual    
40 to <51     MRI + mammography      Annual    
51 to <71      Mammography +/- MRI      Annual    

Women who have a mutation in another high-risk gene including:

  • ATM c.7271T>G

  • CHEK2 biallelic

  • PTEN

  • STK11

  • CDH1 (E-Cadherin)

   Age          Test Frequency of testing
30 to <40      MRI       Annual    
40 to <51     MRI + mammography      Annual    
51 to <71      Mammography +/- MRI      Annual    

Women with TP53 (Li-Fraumeni) syndrome

   Age          Test Frequency of testing
20 to <71    MRI       Annual    

No mammography tests for this group of women.

Women with ATM biallelic (have Ataxia Telangiectasia)

   Age          Test Frequency of testing
25 to <71    MRI       Annual    

Women with proven genetic equivalent risks

Any other gene must be specified and may include:

  • CHEK2

  • ATM

  • RAD51C

  • RAD51D

Women with these gene mutations must have evidence of equivalent 10 year risk via CANRISK assessment at the following levels to be eligible for referral:

  • At age 30 to <40 years: ≥8% calculated from age 30 (or)

  • At age 40 to <50 years: ≥12% calculated from age 40

   Age          Test Frequency of testing
30 to <40      MRI       Annual    
40 to <51     MRI + mammography      Annual    
51 to <71      Mammography +/- MRI      Annual    

Women who are risk equivalent but not tested for familial variant

Women who are risk equivalent to BRCA carriers but not tested must have a first degree relative who has a BRCA1, BRCA2 or PALB2 genetic mutation.

  • To access screening between ages 25 to <30

Women who are risk equivalent but not tested with these gene mutations must have evidence of equivalent 10 year risk via CANRISK assessment at the following levels to be eligible for referral:

  • At age 25 <30 years: ≥8% 10 year risk calculated from age 25 and commence screening at the age at which the 8% threshold is met
   Age          Test Frequency of testing
25 to <40      MRI       Annual    
40 to <51     MRI + mammography      Annual    

Other untested women (including PALB2 and other gene mutations) must have evidence of the equivalent 10 year risk via a CANRISK assessment:

  • At age 30 to <40 years: ≥8% calculated from age 30 (or)

  • At age 40 to <50 years: ≥12% calculated from age 40

   Age          Test Frequency of testing
30 to <40      MRI       Annual    
40 to <51     MRI + mammography      Annual    

Risk equivalent women are not screened via the Very High Risk programme after the age of 50 years

Women who are risk equivalent to TP53 (Li-Fraumeni)  carriers but not tested must have a first degree relative who has a TP53 genetic mutation.

   Age          Test Frequency of testing
20 to <51    MRI       Annual    

Women who have had radiotherapy to breast tissue

Females irradiated below the age of 10 years

Testing is not applicable to these females.

Females irradiated between ages of 10 and <20 years

   Age          Test Frequency of testing
25 to <40     MRI       Annual    
40 to <51     MRI + mammography      Annual    
51 to <71      Mammography +/- MRI      Annual    

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

Females irradiated between ages of 20 and <36years

   Age          Test Frequency of testing
30 to <40    MRI       Annual    
40 to <51     MRI + mammography      Annual    
51 to <71      Mammography +/- MRI      Annual    

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

Women meeting VHR screening eligibility but aged greater than or equal to 71 years

Women aged ≥71 years meeting the VHR screening eligibility criteria may be referred into the VHR breast screening programme via the standard referral routes. Following an initial screen, they will need to self-refer to their local service for screening on an annual basis if they wish to continue accessing screening.

Age          Test Frequency of testing
≥71  MRI + mammography density review Initial test, thereafter mammography +/- MRI upon self-referral