Guidelines for use of CanRisk in Scotland

This is an agreed guideline compiled by the Scottish Cancer Genetics Group on when to undertake a CanRisk assessment to achieve consistency in practice across Scotland within the constraints of current resources and following UKCGG guidelines.

 

What is CanRisk?

CanRisk is a risk prediction tool that is used in certain circumstances to calculate individualised future breast and ovarian cancer risks in women. It has CE marking and is recommended for use by the UK Cancer Genetic Group and NICE, particularly for breast cancer (https://www.canrisk.org/).

 

When to use CanRisk

A CanRisk assessment should be undertaken where it will aid management such as;

• Individuals with a confirmed germline pathogenic variant in BRCA1, BRCA2, PALB2, RAD51C*, RAD51D* or BRIP1 in an accredited diagnostic laboratory.
• Individuals with a confirmed germline pathogenic variant in ATM* (note all individuals carrying the ATM c.7271T>G variant should be managed as ‘very high’ risk) or CHEK2* with a significant family history of Breast or Ovarian Cancer (for example 2 or more affected family members or a diagnosis <50yrs).

A CanRisk assessment may also be helpful in guiding management in the following circumstances;

• Individuals with a paternal family history of breast cancer or a family history on both the maternal and paternal sides of the family
• Individuals where relatives have undergone risk reducing surgery
• Individuals with a concerning family history but no causative variants have been identified on genetic testing.

 

What to include in a CanRisk assessment

CanRisk assessment should always include:

• Patient sex and date of birth
• Details of any children for patient being assessed
• Whether risk reducing surgery performed and cancer history as per medical history section
• A 3-generation pedigree with both affected and unaffected family members recorded with the following information:
  • sex, age, affected, living/deceased where possible
  • Details of pathology (ER, PR, HER2 only) for affected where available
  • Outcome of any genetic testing performed.

If immediately available, CanRisk assessment may also include the following:

• Height and Weight
• Information on past medical history of endometriosis and tubal ligation
• Information on menarche, menopause, OCP or HRT (women’s health section completed).

Please note where risk assessment is being made to determine eligibility for risk reducing surgery as much of the above information as possible should be included.

At present, a CanRisk assessment does not include:

• Information on lifestyle factors including alcohol or smoking
• Breast density (not yet routinely measured in NHS Scotland)
• Polygenic Risk Score (not yet available in NHS Scotland).

 

Limitations of CanRisk

• The risk estimates generated by CanRisk is time specific and will change as the individual ages and if any of the family history information alters or additional genetic test results become available in the family.
• The risk estimates generated from CanRisk are estimates and their accuracy is dependent on the quality of the information that is available to the risk prediction program at that given time.
• Breast and ovarian cancer risks are only given to 80 years.
• There is limitation of data with respect to ovarian cancer, particularly in women over 70 years of age.
• For women with breast cancer, contralateral breast cancer risk estimate does not consider the impact from other treatment received and the prognosis of the primary tumour. There is also limited data on contralateral risks for ATM, CHEK2, PALB2, RAD51C and RAD51D.

*Note gene specific reporting guidance and exceptional variants: Exceptional variants/gene-specific variant reporting - Cancer Genetics Group (ukcgg.org).