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

...eatmen...

...ndation 1.1All patients newly diagnosed with b...


...commendation 1.2All patients newly diagnosed wi...


...ion 1.3Patients undergoing BRCA1/2 testing...


...n 2.1All patients with recurrent bre...


...2.2BRCA1/2 testing should be offered to patients...


...dation 3.1All patients with a personal history of...


...3.2All patients with a personal history of breas...


...ndation 4.1Testing for high penetra...


....2Testing for moderate penetrance bre...


...tion 4.3If a multi-gene panel is ordered...


...5.1Patients undergoing genetic testing should be...


...dation 5.2Patients with pathogenic variants sho...


...tion 5.3Variants of uncertain sign...


...5.4Patients without a pathogenic variant...


...Critical Elements of Pre- and Post-test Counseling...


...ional Comprehensive Cancer Network® (NCC...


...Germline Testing in Patients with Br...