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Article

Novel NBS1 heterozygous germ line mutation causing MRE11-binding domain loss predisposes to common types of cancer.

Cancer research - 1 Dec 2007

Ebi Hiromichi, Matsuo Keitaro, Sugito Nobuyoshi, Suzuki Motoshi, Osada Hirotaka, Tajima Kazuo, Ueda Ryuzo, Takahashi Takashi

Abstract excerpt

DNA damage response (DDR) pathways maintain genomic stability. A 657del5 mutation of NBS1, a key DDR component, causing the rare cancer-predisposing Nijmegen breakage syndrome has been reported nearly exclusively in Slavic populations. In this study, we describe the first identification in a Japanese population of an unprecedented type of heterozygous NBS1 mutant, termed IVS11+2insT, lacking the MRE11- and...

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Source

Identifiers

PMID: 18056440
DOI: 10.1158/0008-5472.CAN-07-1749

Genes

MRE11
ATM
BRCA1
MDC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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