Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report

Abstract Genetic testing for solid tumor syndromes typically uses peripheral blood leukocytes (PBL) as the source of germline DNA. This approach has shortcomings in certain situations, such as somatic mosaicism and hematologic malignancies. Here we describe a case where germline genetic testing on P...

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Bibliographic Details
Main Authors: Sarah Ridd, Larissa Peck, Aniket Bankar, George S. Charames, Jordan Lerner-Ellis, Radhika Mahajan, Peter J. B. Sabatini, Andrew Wong, Janet Malcolmson, Raymond H. Kim
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00476-6
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