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

...atment...

Recommendation 1.1All patients newly diagno...


...dation 1.2All patients newly diagnose...


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


...2.1All patients with recurrent breast can...


...ndation 2.2BRCA1/2 testing should be offered t...


...tion 3.1All patients with a personal histor...


...commendation 3.2All patients with a...


...mmendation 4.1Testing for high pene...


...commendation 4.2Testing for moderate penetrance b...


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


...mendation 5.1Patients undergoing gene...


...n 5.2Patients with pathogenic variant...


...mmendation 5.3Variants of uncertain s...


...ommendation 5.4Patients without a pathogenic va...


Table 1. Critical Elements of Pre- and Post...


...tional Comprehensive Cancer Network® (NCCN®) P...


...1. Germline Testing in Patients wi...