If a pathogenic variant is identified refer to a clinical genetics service or familial cancer centre for review, family risk notification and predictive testing.
If a mosaic pathogenic variant is identified refer to a clinical genetics service or familial cancer centre for review and guidance about the penetrance of phenotypic features (including cancer risk).
If the family pathogenic variant is not found, a referral to a familial cancer centre may still be necessary to ascertain individual risk based on family history.
If a variant of uncertain significance is identified, consider referral to a clinical genetics service or familial cancer centre for review and guidance.
For additional information about the management of genetic test results when ordered by a non-genetic healthcare professional refer to eviQ’s Guide for health professionals ordering genetic testing.