Breast Cancer Germline Testing

Publication Date: January 3, 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...

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


...ommendation 1.2All patients newly diagnose...


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


...mendation 2.1All patients with recurren...


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


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


Recommendation 3.2All patients with...


...ommendation 4.1Testing for high penetranc...


...tion 4.2Testing for moderate penetrance br...


...on 4.3If a multi-gene panel is ordered, th...


...endation 5.1Patients undergoing genetic testing...


...dation 5.2Patients with pathogenic vari...


...commendation 5.3Variants of uncertain significance...


...tion 5.4Patients without a pathogenic va...


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


...able 2. National Comprehensive Cancer Network®...


...re 1. Germline Testing in Patients with...