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.

Graphic 122533 Version 6.0

خرید پکیج

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