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Article

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.

The New England journal of medicine - 12 Nov 2015

Rivera Barbara, Castellsagué Ester, Bah Ismaël, van Kempen Léon C, Foulkes William D

Abstract excerpt

A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.

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Source

Identifiers

PMID: 26559593
DOI: 10.1056/NEJMc1506878

Genes

NTHL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.PMID 26559593Read ↗

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

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

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor PhenotypeSemantic proximity Read ↗

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomasSemantic proximity Read ↗

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

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

Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer.Semantic proximity Read ↗

NTHL1-associate polyposis: first Australian case reportSemantic proximity Read ↗

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