Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.

BMC cancer - 13 Jun 2014

Schröder-Heurich Bianca, Bogdanova Natalia, Wieland Britta, Xie Xiaoxi, Noskowicz Monika, Park-Simon Tjoung-Won, Hillemanns Peter, Christiansen Hans, Dörk Thilo

Abstract excerpt

BACKGROUND: Mutations in NBN, the gene for Nijmegen Breakage Syndrome (NBS), are thought to predispose women to developing breast cancer, but a breast cancer cell line containing mutations in NBN has not yet been described. The p.R215W missense mutation occurs at sub-polymorphic frequencies in several populations. We aimed to investigate its functional impact in breast cancer cells from a carrier of this NBN...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Breast Neoplasms
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair

Share to Histones

Share to Immunohistochemistry

Share to Nuclear Proteins

Share to Radiation Tolerance

Share to Tumor Stem Cell Assay

Source

Open in PubMed Open full text

Identifiers

PMID: 24928521
DOI: 10.1186/1471-2407-14-434
PMCID: PMC4085727

Genes

NBN
BRCA1
PARP1
ATM
MDC1

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.PMID 24928521Read ↗

Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.Semantic proximity Read ↗

New mutations and protein variants of NBS1 are identified in cancer cell lines.Semantic proximity Read ↗

Nijmegen Breakage Syndrome mutations and risk of breast cancer.Semantic proximity Read ↗

The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients.Semantic proximity Read ↗

Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation.Semantic proximity Read ↗

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.Semantic proximity Read ↗

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.Semantic proximity Read ↗

Determination of the frequency of the common 657Del5 Nnijmegen breakage syndrome mutation in the German population: No association with risk of breast cancerSemantic proximity Read ↗

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.Semantic proximity Read ↗

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.Semantic proximity Read ↗

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.Semantic proximity Read ↗

Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.