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Algorithm for a BRCA1 or BRCA2 genetic test result in a person without cancer

Algorithm for a BRCA1 or BRCA2 genetic test result in a person without cancer
This algorithm is only intended for individuals who do not have a personal diagnosis of cancer. Interpretations of pathogenicity may be revised as more data become available. It is especially important to seek this updated information periodically for a VUS; many VUSs are reclassified as benign. Discussion with a genetic counselor and/or an expert in hereditary breast and ovarian cancer is likely to be appropriate for most individuals with a pathogenic or likely pathogenic variant and/or a positive family history of breast, ovarian, or pancreatic cancer or melanoma.

VUS: variant of uncertain significance; rrBSO: risk-reducing bilateral salpingo-oophorectomy.

* Ensure that the genetic testing is performed properly, the patient identification is correct, and the interpretation of pathogenicity is accurate based on the most recent data analysis.

¶ Pathogenic and likely pathogenic variants are treated the same for purposes of surveillance and risk-reduction interventions; these interventions are independent of family history.

Δ VUSs lack sufficient information from clinical and bench research to be classified as pathogenic or benign. Continue to seek updated interpretation of pathogenicity periodically (eg, annually).

◊ Refer to UpToDate for the age at which interventions are initiated (eg, delay of rrBSO until after childbearing), the frequency at which they are performed, and the supporting evidence.
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