ArticleProceedings of the National Academy of Sciences of the United States of America2005
Association of the NuMA region on chromosome 11q13 with breast cancer susceptibility.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 6 citations in OpenAlex.
- Whole‑exome sequencing insights into synchronous bilateral breast cancer with discordant molecular subtypes.Oncology letters · 2024Article
- Role of NuMA1 in breast cancer stem cells with implications for combination therapy of PIM1 and autophagy inhibition in triple negative breast cancer.Research square · 2024Article
- The Impact of Centrosome Pathologies on Ovarian Cancer Development and Progression with a Focus on Centrosomes as Therapeutic Target.Advances in experimental medicine and biology · 2024Review
- Evaluation of Different SNP Analysis Software and Optimal Mining Process in Tree Species.Life (Basel, Switzerland) · 2023Article
- Investigation of the SPAG5 gene expression and amplification related to the NuMA mRNA levels in breast ductal carcinoma.World journal of surgical oncology · 2020Article
- Functions and dysfunctions of the mammalian centrosome in health, disorders, disease, and aging.Histochemistry and cell biology · 2018Review
- Large-scale analysis of genome and transcriptome alterations in multiple tumors unveils novel cancer-relevant splicing networks.Genome research · 2016Article
- Roles of pRB in the Regulation of Nucleosome and Chromatin Structures.BioMed research international · 2016Review
- Comparing a few SNP calling algorithms using low-coverage sequencing data.BMC bioinformatics · 2013Article
- Comprehensive analysis of NuMA variation in breast cancer.BMC cancer · 2008Article
- Structural and regulatory roles of nonmotor spindle proteins.Current opinion in cell biology · 2008Review
- Autoantibodies to mitotic apparatus: association with other autoantibodies and their clinical significance.Journal of clinical immunology · 2006Article
- Identification of the semaphorin receptor PLXNA2 as a candidate for susceptibility to schizophrenia.Molecular psychiatry · 2006Article
- Genetic polymorphisms in DPF3 associated with risk of breast cancer and lymph node metastases.Journal of carcinogenesis · 2005Article
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The development of breast cancer is a complex process that involves multiple genes at many stages, from initial cell cycle dysregulation to disease progression. To identify genetic variations that influence this process, we conducted a large-scale association study using a collection of German cases and controls and >25,000 SNPs located within 16,000 genes. One of the loci identified was located on chromosome 11q13 [odds ratio (OR)=1.85, P=0.017]. The initial association was subsequently tested in two independent breast cancer collections. In both sample sets, the frequency of the susceptibility allele was increased in the cases (OR=1.6, P=0.01). The susceptibility allele was also associated with an increase in cancer family history (P=0.1). Fine mapping showed that the region of association extends approximately 300 kb and spans several genes, including the gene encoding the nuclear mitotic apparatus protein (NuMA). A nonsynonymous SNP (A794G) in NuMA was identified that showed a stronger association with breast cancer risk than the initial marker SNP (OR=2.8, P=0.005 initial sample; OR=2.1, P=0.002 combined). NuMA is a cell cycle-related protein essential for normal mitosis that is degraded in early apoptosis. NuMA-retinoic acid receptor alpha fusion proteins have been described in acute promyelocytic leukemia. Although the potential functional relevance of the A794G variation requires further biological validation, we conclude that variations in the NuMA gene are likely responsible for the observed increased breast cancer risk.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.