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-  2019 

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

DOI: https://doi.org/10.1016/j.ccell.2018.12.011

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Abstract:

? Biallelic germline NTHL1 mutations predispose to a multi-tumor syndrome ? Biallelic germline NTHL1 mutation carriers are at risk for breast cancer ? Tumors from NTHL1-deficient patients reveal a cross-cancer NTHL1-associated signature ? Mutational signature analyses can assist to identify germline DNA repair defect

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