Figure 2. A possible new strategy for the identification of “at risk” probands prior to referral for germline testing.

Traditionally, clinical characteristics such as young age, a family history of cancer, or multiple primary cancers have been used to identify patients at risk of carrying germline mutations (left). For some cancers, such as colorectal cancer, suspicion for Lynch syndrome leads first to molecular testing (staining for mismatch repair proteins) prior to germline testing (middle). We propose that, for lung cancer, merely the presence of pre-treatment T790M on EGFR genotyping performed for treatment planning could be sufficient to lead to germline testing (right).