Algorithm for a germline PALB2 genetic test result interpretation in an individual without cancer

VUS: variant of uncertain significance.
* 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).
◊ PALB2 has been associated with breast cancer (female), pancreatic cancer (exocrine), and ovarian cancer. While the risks for breast and pancreatic are relatively well-established, risks for the other types of cancers (and breast cancer in males) are not confirmed and/or are difficult to quantify.
§ Refer to related UTD content on PALB2.