Screening and early detection of breast cancer in high-risk populations should follow a stratified approach based on individual risk assessment, genetic status, and age. Women with a lifetime breast cancer risk of 30% or greater, including those with known BRCA1, BRCA2, or TP53 mutations, should be offered enhanced surveillance beyond the standard population screening programme NICE CG164.
Surveillance modalities include:
- Annual MRI surveillance for women aged 30 to 49 years with a personal history of breast cancer who remain at high risk, including BRCA mutation carriers, and for women aged 20 to 69 years with a known TP53 mutation or high probability of being a carrier NICE CG164.
- Annual mammographic surveillance is recommended for women aged 40 to 59 years at high risk but with a 30% or lower probability of being a BRCA or TP53 carrier, and for those aged 40 to 69 years with a known BRCA mutation NICE CG164. Mammography is also offered as part of the population screening programme for women aged 50 years and over at moderate or high risk, with adjustments based on genetic probability NICE CG164.
- Ultrasound surveillance is not routinely recommended but may be considered when MRI is unsuitable or mammography/MRI results are difficult to interpret NICE CG164.
Women at moderate risk (lifetime risk 17% to less than 30%) should be offered annual mammography from age 40 to 49 years, with mammography as part of the population screening programme from age 60 onwards; MRI is generally not offered in this group NICE CG164.
All women at increased risk should be breast aware—encouraged to be familiar with their breasts and promptly report any changes, as per Department of Health advice NICE CG164,NICE CKS.
Genetic testing and counselling are integral to managing high-risk populations, with fast-track genetic testing offered within 4 weeks of breast cancer diagnosis as part of clinical trials, and detailed consultations with genetics specialists recommended NICE CG164. Referral to specialist genetics services is advised when high-risk gene mutations are identified or when family history is complex NICE CG164,NICE CKS.
Risk communication and informed decision-making are essential, including discussing benefits and risks of surveillance (e.g., radiation exposure, overdiagnosis, psychological impact), and providing written information and support NICE CG164,NICE CKS.
Lifestyle advice on modifiable risk factors such as alcohol reduction, maintaining healthy weight, physical activity, and smoking cessation should be provided to all women at increased risk NICE CKS.
Recent literature supports the use of risk assessment models to tailor screening strategies and highlights the importance of combining imaging modalities for early detection in high-risk women Griffin & Pearlman 2010Barke & Freivogel 2017. MRI is particularly valuable for younger high-risk women due to higher sensitivity, while mammography remains important for older women NICE CG164[Griffin & Pearlman 2010; Barke & Freivogel 2017].
In summary, UK guidelines recommend a risk-stratified screening approach combining mammography and MRI surveillance tailored by age and genetic risk, supported by genetic counselling and lifestyle advice, to optimize early detection in high-risk populations NICE CG164,NICE CKS.
Key References
- CG164 - Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer
- CKS - Breast cancer - managing FH
- CKS - Breast screening
- (Griffin and Pearlman, 2010): Breast cancer screening in women at average risk and high risk.
- (Barke and Freivogel, 2017): Breast Cancer Risk Assessment Models and High-Risk Screening.
- (Ding et al., 2022): Breast cancer screening and early diagnosis in Chinese women.