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Article

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

1 Feb 2019

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30753826
DOI: 10.1016/j.ccell.2018.12.011

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Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor PhenotypePMID 30753826Read ↗

Extending the clinical phenotype associated with biallelic NTHL1 germline mutationsSemantic proximity Read ↗

Delineating the Phenotypic Spectrum of the NTHL1-Associated PolyposisSemantic proximity Read ↗

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Genotype-phenotype correlations in NTHL1-associated tumour syndrome: case report and literature review.Semantic proximity Read ↗

Six case reports of NTHL1-associated tumor syndrome further support it as a multi-tumor predisposition syndrome.Semantic proximity Read ↗

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposisSemantic proximity Read ↗

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjectsSemantic proximity Read ↗

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