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

Treatm...

...on 1.1All patients newly diagnosed with...


...mendation 1.2All patients newly diagnosed with...


Recommendation 1.3Patients undergoing BR...


Recommendation 2.1All patients with recurrent bre...


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


...mmendation 3.1All patients with a pe...


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


...on 4.1Testing for high penetrance genes...


...mendation 4.2Testing for moderate pe...


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


...5.1Patients undergoing genetic testing...


...endation 5.2Patients with pathogenic...


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


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


...ble 1. Critical Elements of Pre- and...


...2. National Comprehensive Cancer Networ...


...Germline Testing in Patients with Brea...