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High-Throughput Polymorphism Detection Core

The High-Throughput Polymorphism Detection Core provides services to investigators conducting molecular analyses of somatic DNA collected as part of a wide range of investigations. This includes high-throughput assays of specific gene mutations and polymorphisms (SNPs) in the many situations where previously defined specific nucleotide alterations are of interest.

A series of mutations have been identified in human lung cancer samples that may have prognostic and therapeutic significance. Pasi Janne, MD, PhD (DFCI) is leading an effort to provide genetic information for every lung cancer patient treated at DFCI, which will be used for prognostic assessment and selection of treatment. To this end, the High-Throughput Polymorphism Detection Core developed a Sequenom genotyping assay to detect common mutations that occur in EGFR, PI3K, BRAF, and KRAS in human lung cancer specimens.