The following is a summary of “Germline Testing of Patients With Non–small Cell Lung Cancers Demonstrating Incidentally Uncovered BRCA2 Apparent Pathogenic Germline Variants” published in the November 2022 issue of Clinical Lung Cancer by Sorscher et al.

Nearly every case of non–small cell lung cancer (NSCLC) is looked at with tumor next generation sequencing (NGS) to find genetic changes that can be treated. Sometimes, tumor NGS can also find “accidental” apparent pathogenic germline variants (PGVs), of which BRCA2 is one of the most common. If germline testing shows that a patient with NSCLC has a BRCA2 PGV, therapies that target that BRCA2 PGV could be considered if the patient has already tried all of the standard treatments for NSCLC. 

Monitoring and preventative treatments for malignancies associated with BRCA2 would be recommended or thought about for this patient and any family members who were found to carry the same BRCA2 PGV as the patient. In this section, scholars provide their perspectives on the evidence for and against germline testing in individuals diagnosed with NSCLC who had BRCA2 apparent PGVs that were discovered by accident.

They give an example to demonstrate why it is essential to communicate with patients before performing tumor NGS about the possibility that it will discover a PGV by accident. When the only reason for germline testing is the accidental discovery of a BRCA2 apparent PGV, researchers discuss the many unknowns that come along with the discovery of a BRCA2 apparent PGV.

Source: sciencedirect.com/science/article/abs/pii/S1525730422001632