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PPM - BRCA1 and BRCA2-Associated Hereditary Breast ...
BRCA Checklist
BRCA Checklist
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Pdf Summary
This document provides a checklist for healthcare providers to ensure that important information is obtained and recorded during patient visits related to BRCA1 and BRCA2-associated hereditary breast and ovarian cancer. The checklist includes the following items:<br /><br />1. Obtain a comprehensive family pedigree, including cancer history and ancestry.<br />2. Obtain prior genetic testing and pathology reports.<br />3. Document personal medical, surgical, and cancer history, including reproductive history and risk-reducing surgeries.<br />4. Document exposures or risk factors associated with cancer.<br />5. Document previous cancer screening tests and results.<br />6. Document fulfillment of hereditary cancer testing criteria or probability models.<br />7. Recommend or consider BRCA1 and BRCA2 testing together or as part of a larger gene panel.<br />8. Discuss moderate-risk genes and their implications.<br />9. Review management options if a pathogenic/likely pathogenic variant is identified, including surveillance and risk-reducing measures.<br />10. Discuss surveillance guidelines, such as clinical breast exams and mammograms.<br />11. Discuss the option of risk-reducing mastectomy and its considerations.<br />12. Discuss the option of risk-reducing salpingo-oophorectomy.<br />13. Provide counseling on reproductive plans, hormone replacement therapy, and menopausal symptoms management.<br />14. Discuss risks of concurrent hysterectomy with risk-reducing salpingo-oophorectomy.<br />15. Discuss genetic testing limitations in unaffected individuals and the importance of testing the family member with the highest probability of a pathogenic variant.<br />16. Review laws regarding genetic discrimination and privacy.<br />17. Document the patient's decision regarding genetic testing.<br />18. Discuss the implications of a pathogenic variant on relatives and options for cascade testing.<br />19. Discuss the association between biallelic pathogenic variants in BRCA2 and Fanconi anemia.<br />20. Discuss follow-up plans for variants of uncertain significance.<br />21. Review management options if no pathogenic variant or variant of uncertain significance is identified in BRCA1 or BRCA2.
Keywords
healthcare providers
checklist
BRCA1
BRCA2
hereditary cancer
genetic testing
risk factors
surveillance
reproductive plans
pathogenic variants
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