Clinical Grade “SNaPshot” Genetic Mutation Profiling in Multiple Myeloma
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) ha...
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doaj-bdf185abc26248c4a590ac86137b55f12020-11-25T01:39:13ZengElsevierEBioMedicine2352-39642015-01-0121717310.1016/j.ebiom.2014.11.008Clinical Grade “SNaPshot” Genetic Mutation Profiling in Multiple MyelomaElizabeth O'DonnellAnuj MahindraAndrew J. YeeValentina NardiNicole BirrerNora HorickDarrell BorgerDianne FinkelsteinJohn A. IafrateNoopur RajeWhole 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.http://www.sciencedirect.com/science/article/pii/S2352396414000322MyelomaMutationsClinicalTherapySequencing |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Elizabeth O'Donnell Anuj Mahindra Andrew J. Yee Valentina Nardi Nicole Birrer Nora Horick Darrell Borger Dianne Finkelstein John A. Iafrate Noopur Raje |
spellingShingle |
Elizabeth O'Donnell Anuj Mahindra Andrew J. Yee Valentina Nardi Nicole Birrer Nora Horick Darrell Borger Dianne Finkelstein John A. Iafrate Noopur Raje Clinical Grade “SNaPshot” Genetic Mutation Profiling in Multiple Myeloma EBioMedicine Myeloma Mutations Clinical Therapy Sequencing |
author_facet |
Elizabeth O'Donnell Anuj Mahindra Andrew J. Yee Valentina Nardi Nicole Birrer Nora Horick Darrell Borger Dianne Finkelstein John A. Iafrate Noopur Raje |
author_sort |
Elizabeth O'Donnell |
title |
Clinical Grade “SNaPshot” Genetic Mutation Profiling in Multiple Myeloma |
title_short |
Clinical Grade “SNaPshot” Genetic Mutation Profiling in Multiple Myeloma |
title_full |
Clinical Grade “SNaPshot” Genetic Mutation Profiling in Multiple Myeloma |
title_fullStr |
Clinical Grade “SNaPshot” Genetic Mutation Profiling in Multiple Myeloma |
title_full_unstemmed |
Clinical Grade “SNaPshot” Genetic Mutation Profiling in Multiple Myeloma |
title_sort |
clinical grade “snapshot” genetic mutation profiling in multiple myeloma |
publisher |
Elsevier |
series |
EBioMedicine |
issn |
2352-3964 |
publishDate |
2015-01-01 |
description |
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. |
topic |
Myeloma Mutations Clinical Therapy Sequencing |
url |
http://www.sciencedirect.com/science/article/pii/S2352396414000322 |
work_keys_str_mv |
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