Breast Cancer Germline Testing
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
Recommendation 1.1All patients newly di...
...ation 1.2All patients newly diagnosed with brea...
....3Patients undergoing BRCA1/2 testing sho...
...mendation 2.1All patients with recurrent brea...
...endation 2.2BRCA1/2 testing should be offere...
...commendation 3.1All patients with a personal...
...n 3.2All patients with a personal...
...dation 4.1Testing for high penetrance genes be...
...tion 4.2Testing for moderate penetrance...
....3If a multi-gene panel is ordered, th...
...endation 5.1Patients undergoing genetic tes...
Recommendation 5.2Patients with patho...
...n 5.3Variants of uncertain significance should no...
...commendation 5.4Patients without a pathogenic vari...
...e 1. Critical Elements of Pre- and Post-...
Table 2. National Comprehensive Cancer...
...ermline Testing in Patients with Br...