Breast Cancer Germline Testing

Publication Date: January 4, 2024

Key Points

Key Points

  • The advent of next-generation sequencing and multigene panel testing has changed the landscape of germline mutation testing with valuable implications for both prevention (particularly surgical) and treatment.
  • However, the advent of expanded testing also presents challenges since the ease with which genes can be sequenced has outpaced the understanding of the clinical implications of the germline findings.
  • This ASCO-SSO clinical practice guideline provides clinicians and other health care practitioners, nurses and social workers, patients, genetic counselors, and caregivers with formal consensus-based recommendations regarding the role of germline mutation testing in patients with breast cancer based on the best available evidence (Figure 1).

Treatment

...eatment...

...1.1All patients newly diagnosed with breas...


...ion 1.2All patients newly diagnose...


....3Patients undergoing BRCA1/2 testing should...


...ion 2.1All patients with recurrent breast...


...on 2.2BRCA1/2 testing should be offered to pat...


...commendation 3.1All patients with a personal...


...mmendation 3.2All patients with a personal...


...4.1Testing for high penetrance genes bey...


...ommendation 4.2Testing for moderate penetranc...


...4.3If a multi-gene panel is ordered, the specifi...


...5.1Patients undergoing genetic testin...


...mendation 5.2Patients with pathogenic variants s...


...endation 5.3Variants of uncertain significance sh...


...on 5.4Patients without a pathogenic variant on gen...


...ical Elements of Pre- and Post-test Counseling i...


...National Comprehensive Cancer Network®...


...rmline Testing in Patients with Breast...