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What Mutations Are Tested?

EGFR

Up to 35% of NSCLC cases are caused by EGFR mutations.

Tests are available to detect EGFR mutations, including the EGFR T790M resistance mutation, using tumour tissue and plasma ctDNA. To learn more about how mutation testing is done and how tissue and plasma samples are used, please see the section "How is mutation testing done?"

EGFR mutation testing can be performed at different times, such as at the time of diagnosis or if NSCLC progresses while the patient is undergoing treatment. To learn more about the timing of EGFR mutation testing, please see the section "When is Mutation Testing Done".

The status of EGFR mutations can help the healthcare team determine if a targeted therapeutic approach is appropriate.

MET & HER2

Another two gene mutations that are measured are known as MET and HER2. These types of mutations occur less frequently than EGFR mutations, with each of these mutations occurring between 3-8% of NSCLC cases.

ALK

ALK mutations occur in up to 7% of all cases of NSCLC and are associated with adenocarcinomas and a nonsmoking history. In contrast to EGFR mutations, patients with ALK mutations are typically male and of significantly younger age.

KRAS

Studies show that 26% of NSCLC tumours from current or former smokers harbour a KRAS mutation. KRAS mutations are typically mutually exclusive of EGFR and ALK mutations.

ROS1

Approximately 2% of NSCLC cases are positive for ROS1 mutations, which do not overlap with other NSCLC mutations (e.g. EGFR, KRAS and ALK mutations).

PD-L1

Studies have shown that between 13 and 70% of lung cancer cases express PD-L1, depending on how expression is tested and defined. Although the mechanism downstream of PD-L1expression is not fully understood, evidence show that a higher expression of PD-L1 in surgically removed NSLCL is a factor for poor prognosis.