Detection of microsatellite instability high (MSI-H) status by targeted plasma-based genotyping in metastatic breast cancer

We evaluate microsatellite instability-high (MSI-H) status with cell-free DNA (cfDNA) in metastatic breast cancer (MBC) and the association with clinico-genomic characteristics. Patients with MSI-H in cfDNA (Guardant360 ® , 74 gene next-generation sequencing (NGS) with MBC are identified. We conduct...

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Bibliographic Details
Published in:NPJ breast cancer 2022-11, Vol.8 (1), p.117-117, Article 117
Main Authors: Vidula, Neelima, Lipman, Andrew, Kato, Shumei, Weipert, Caroline, Hesler, Katherine, Azzi, Georges, Elkhanany, Ahmed, Juric, Dejan, Rodriguez, Estelamari, Faulkner, Colleen, Makhlouf, Paul, Price, Kristin, O’Shaughnessy, Joyce, Bardia, Aditya
Format: Article
Language:English
Subjects:
631/67/1347
692/4028/67/1347
Biomedical and Life Sciences
Biomedicine
Breast cancer
Cancer Research
Cancer therapies
Cell Biology
Chemotherapy
Genes
Genomics
Human Genetics
Immunotherapy
Medical research
Metastasis
Mutation
Oncology
Patients
Plasma
Tumors
Yeast
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Summary:We evaluate microsatellite instability-high (MSI-H) status with cell-free DNA (cfDNA) in metastatic breast cancer (MBC) and the association with clinico-genomic characteristics. Patients with MSI-H in cfDNA (Guardant360 ® , 74 gene next-generation sequencing (NGS) with MBC are identified. We conduct a retrospective review. The median number of alterations and a median maximum mutant allelic fraction (MAF) in MSI-H and non-MSI-H cohorts are compared with Mann–Whitney U -test. Of 6718 patients with breast cancer with ≥1 plasma NGS alteration, 42 (0.63%) have MSI-H. A median number of genomic alterations per sample is 11 in MSI-H vs. 3 in non-MSI-H (Mann–Whitney U -test p  
ISSN:2374-4677
2374-4677
DOI:10.1038/s41523-022-00490-2