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

...reatme...

...commendation 1.1All patients newly diagnose...


...ion 1.2All patients newly diagnosed...


...dation 1.3Patients undergoing BRCA1/2 testing sho...


...n 2.1All patients with recurrent breast...


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


...on 3.1All patients with a personal history o...


...3.2All patients with a personal hi...


...4.1Testing for high penetrance genes beyond...


...tion 4.2Testing for moderate penetrance brea...


...ndation 4.3If a multi-gene panel is o...


...dation 5.1Patients undergoing genetic testing sho...


...endation 5.2Patients with pathogenic variants s...


...ion 5.3Variants of uncertain significance shou...


....4Patients without a pathogenic variant on...


...tical Elements of Pre- and Post-test...


...National Comprehensive Cancer NetworkÂ...


...mline Testing in Patients with Breas...