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. 2014 Nov 18;2(1):71-3.
doi: 10.1016/j.ebiom.2014.11.008. eCollection 2015 Jan.

Clinical Grade "SNaPshot" Genetic Mutation Profiling in Multiple Myeloma

Elizabeth O'Donnell  1 , Anuj Mahindra  1 , Andrew J Yee  1 , Valentina Nardi  1 , Nicole Birrer  1 , Nora Horick  1 , Darrell Borger  1 , Dianne Finkelstein  1 , John A Iafrate  1 , Noopur Raje  1
Affiliations

Clinical Grade "SNaPshot" Genetic Mutation Profiling in Multiple Myeloma

Elizabeth O'Donnell et al. EBioMedicine. .

Abstract

Whole genome sequencing studies have identified several oncogenic mutations in multiple myeloma (MM). As MM progresses, it evolves genetically underscoring the need to have tools for rapid detection of targetable mutations to optimize individualized treatment. Massachusetts General Hospital (MGH) has developed a Clinical Laboratory Improvement Amendments (CLIA)-approved, high-throughput, genotyping platform to determine the mutation status of a panel of known oncogenes. Sequence analysis using SNaPshot on DNA extracted from bone marrow and extramedullary plasmacytomas is feasible and leads to the detection of potentially druggable mutations. Screening MM patients for somatic mutations in oncogenes may provide novel targets leading to additional therapies for this patient population.

Keywords: Clinical; Mutations; Myeloma; Sequencing; Therapy.

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