Identifying people who may have an inherited increased risk of breast cancer supports appropriate risk assessment, genetic counselling, surveillance and risk-reducing interventions.
This page brings together national guidance and resources to support healthcare professionals in recognising relevant family histories, assessing referral requirements and accessing specialist services.
Identifying patients who may require assessment
Healthcare professionals should consider whether a patient’s personal or family history indicates an increased risk of breast cancer or another related hereditary cancer.
Relevant factors may include:
- Breast cancer diagnosed at a young age.
- Multiple relatives affected by breast cancer.
- A family history of ovarian cancer or other cancers associated with hereditary cancer syndromes.
- Male breast cancer within the family.
- A known inherited pathogenic variant in a relative.
Family history should be considered on both the maternal and paternal sides.
Assessment and referral decisions should follow current NICE guidance and applicable local pathways.
Referral and genetic testing
Patients who meet relevant criteria may require referral to a family history service, clinical genetics service or another appropriate specialist pathway. Specialist assessment may include a detailed family history, cancer risk assessment, genetic counselling and consideration of genomic testing.
Genomic testing should be undertaken in accordance with the NHS England National Genomic Test Directory and relevant eligibility criteria.
Local referral pathway
The following resources provide guidance on genomic testing eligibility and referral to specialist genetics services. Healthcare professionals should check the appropriate pathway for their local area.
- NHS England National Genomic Test Directory
- Oxford University Hospitals Clinical Genetics Service
- Oxford Regional Cancer Genetic Service referral criteria
Risk assessment and management
Following assessment, patients identified as having an increased risk may be offered personalised management options.
These may include enhanced surveillance, genetic counselling, discussion of risk-reducing medication or consideration of risk-reducing surgery, depending on individual risk and clinical circumstances.
Risk-reducing endocrine therapy is a separate clinical consideration and should follow the relevant NICE recommendations and specialist advice.
Clinical guidance and resources
- NICE CG164: Familial breast cancer
- NHS England: National Genomic Test Directory
- NICE: Familial breast cancer information and decision-making resources
Information for patients
For accessible information about inherited breast cancer risk, genetic testing and support, visit our patient-facing page here.
Overview
Identifying people who may have an inherited increased risk of breast cancer supports appropriate risk assessment, genetic counselling, surveillance and risk-reducing interventions.
This page brings together national guidance and resources to support healthcare professionals in recognising relevant family histories, assessing referral requirements and accessing specialist services.
Identifying patients who may require assessment
Healthcare professionals should consider whether a patient’s personal or family history indicates an increased risk of breast cancer or another related hereditary cancer.
Relevant factors may include:
- Breast cancer diagnosed at a young age.
- Multiple relatives affected by breast cancer.
- A family history of ovarian cancer or other cancers associated with hereditary cancer syndromes.
- Male breast cancer within the family.
- A known inherited pathogenic variant in a relative.
Family history should be considered on both the maternal and paternal sides.
Assessment and referral decisions should follow current NICE guidance and applicable local pathways.
Referral and genetic testing
Patients who meet relevant criteria may require referral to a family history service, clinical genetics service or another appropriate specialist pathway. Specialist assessment may include a detailed family history, cancer risk assessment, genetic counselling and consideration of genomic testing.
Genomic testing should be undertaken in accordance with the NHS England National Genomic Test Directory and relevant eligibility criteria.
Local referral pathway
The following resources provide guidance on genomic testing eligibility and referral to specialist genetics services. Healthcare professionals should check the appropriate pathway for their local area.
- NHS England National Genomic Test Directory
- Oxford University Hospitals Clinical Genetics Service
- Oxford Regional Cancer Genetic Service referral criteria
Risk assessment and management
Following assessment, patients identified as having an increased risk may be offered personalised management options.
These may include enhanced surveillance, genetic counselling, discussion of risk-reducing medication or consideration of risk-reducing surgery, depending on individual risk and clinical circumstances.
Risk-reducing endocrine therapy is a separate clinical consideration and should follow the relevant NICE recommendations and specialist advice.
Clinical guidance and resources
- NICE CG164: Familial breast cancer
- NHS England: National Genomic Test Directory
- NICE: Familial breast cancer information and decision-making resources
Information for patients
For accessible information about inherited breast cancer risk, genetic testing and support, visit our patient-facing page here.