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targeted sequencing

With sequence data for more than 118,000 tumors profiled at Foundation Medicine, investigators tracked PDL1 amplification prevalence and possible treatment implications.

New tumor profiling papers stemming from prior clinical trials led to informative mutations in early-stage, ER+/HER2- breast cancer and lung squamous cell carcinoma.

In a pan-cancer analysis, Lynch syndrome genes were mutated more often than anticipated in tumors with high or intermediate levels of microsatellite instability.

A phase 1 study from MD Anderson saw a modest increase in overall and progression-free survival in cancer patients molecularly matched to treatment.

The company said it will seek FDA approval for the assay, an expanded version of FoundationACT, as a CDx for targeted therapies and as a tumor mutation profiling assay.

A Mount Sinai team performed targeted sequencing on non-small cell lung cancer samples to find mutations with clinical implications.

Some aspects of testing practice seem clear, while others present significant challenges for clinicians, according to discussions at the recent ASCO meeting.

Through prospective pancreatic ductal adenocarcinoma testing, researchers saw germline mutations in new genes and in cases outside of current germline testing criteria.

The study showed that targeted sequencing was feasible, identified many clinically relevant alterations, and directed effective targeted therapy in several cases.

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