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

Autor: Neelima Vidula, Andrew Lipman, Shumei Kato, Caroline Weipert, Katherine Hesler, Georges Azzi, Ahmed Elkhanany, Dejan Juric, Estelamari Rodriguez, Colleen Faulkner, Paul Makhlouf, Kristin Price, Joyce O’Shaughnessy, Aditya Bardia
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: npj Breast Cancer, Vol 8, Iss 1, Pp 1-7 (2022)
Druh dokumentu: article
ISSN: 2374-4677
DOI: 10.1038/s41523-022-00490-2
Popis: Abstract 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
Databáze: Directory of Open Access Journals
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