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Article

Heterozygous colon cancer-associated mutations of SAMHD1 have functional significance.

Proceedings of the National Academy of Sciences of the United States of America - 26 Apr 2016

Rentoft Matilda, Lindell Kristoffer, Tran Phong, Chabes Anna Lena, Buckland Robert J, Watt Danielle L, Marjavaara Lisette, Nilsson Anna Karin, Melin Beatrice, Trygg Johan, Johansson Erik, Chabes Andrei

Abstract excerpt

Even small variations in dNTP concentrations decrease DNA replication fidelity, and this observation prompted us to analyze genomic cancer data for mutations in enzymes involved in dNTP metabolism. We found that sterile alpha motif and histidine-aspartate domain-containing protein 1 (SAMHD1), a deoxyribonucleoside triphosphate triphosphohydrolase that decreases dNTP pools, is frequently mutated in colon cancers,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27071091
DOI: 10.1073/pnas.1519128113
PMCID: PMC4855590

Genes

SAMHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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