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Article

Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.

Familial cancer - 1 Dec 2012

Zuhlke Kimberly A, Johnson Anna M, Okoth Linda A, Stoffel Elena M, Robbins Christiane M, Tembe Waibov A, Salinas Claudia A, Zheng S Lilly, Xu Jianfeng, Carpten John D, Lange Ethan M, Isaacs William B, Cooney Kathleen A

Abstract excerpt

Nibrin (NBN), located on chromosome 8q21 is a gene involved in DNA double-strand break repair that has been implicated in the rare autosomal recessive chromosomal instability syndrome known as Nijmegen Breakage Syndrome (NBS). NBS is characterized by specific physical characteristics (microcephaly and dysmorphic facies), immunodeficiency, and increased risk of malignancy. Individuals who are heterozygous for NBN...

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Source

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Identifiers

PMID: 22864661
DOI: 10.1007/s10689-012-9555-1
PMCID: PMC3485445

Genes

NBN
MRE11
RAD50

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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Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN ComplexSemantic proximity Read ↗

MRN Complex and Cancer Risk: Old Bottles, New Wine.Semantic proximity Read ↗

A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.Semantic proximity Read ↗

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