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Article

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

American journal of human genetics - 9 Mar 2012

Tanaka Akio, Weinel Sarah, Nagy Nikoletta, O'Driscoll Mark, Lai-Cheong Joey E, Kulp-Shorten Carol L, Knable Alfred, Carpenter Gillian, Fisher Sheila A, Hiragun Makiko, Yanase Yuhki, Hide Michihiro, Callen Jeffrey, McGrath John A

Abstract excerpt

ATR (ataxia telangiectasia and Rad3 related) is an essential regulator of genome integrity. It controls and coordinates DNA-replication origin firing, replication-fork stability, cell-cycle checkpoints, and DNA repair. Previously, autosomal-recessive loss-of-function mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder. Here, however, we report on a different kind of genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22341969
DOI: 10.1016/j.ajhg.2012.01.007
PMCID: PMC3309191

Genes

ATR
ATM
TRRAP

Variants

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.

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