Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition

Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition

Abstract We report a case of Mismatch Repair Deficiency (MMRD) caused by germline homozygous EPCAM deletion leading to tissue-specific loss of MSH2. Through the use of patient-derived cells and organoid technologies, we performed stepwise in vitro differentiation of colonic and brain organoids from...

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Main Authors: V. J. Forster, M. Aronson, C. Zhang, J. Chung, S. Sudhaman, M. A. Galati, J. Kelly, L. Negm, A. B. Ercan, L. Stengs, C. Durno, M. Edwards, M. Komosa, L. E. Oldfield, N. M. Nunes, S. Pedersen, J. Wellum, I. Siddiqui, V. Bianchi, B. R. Weil, V. L. Fox, T. J. Pugh, J. Kamihara, U. Tabori
Format: Article
Language:English
Published: Nature Portfolio 2024-03-01
Series:npj Precision Oncology
Online Access:https://doi.org/10.1038/s41698-024-00537-6

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https://doi.org/10.1038/s41698-024-00537-6

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