ArticleBMC cancer2008
MDM2 SNP309 is associated with high grade node positive breast tumours and is in linkage disequilibrium with a novel MDM2 intron 1 polymorphism.
Article in BMC cancer, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 5 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 5 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- A case-control study on the SNP309T → G and 40-bp Del1518 of the MDM2 gene and a systematic review for MDM2 polymorphisms in the patients with breast cancer.Journal of clinical laboratory analysis · 2020Pooled it
- Association of theDisease markers · 2016Pooled it
- Individual and combined effects of MDM2 SNP309 and TP53 Arg72Pro on breast cancer risk: an updated meta-analysis.Molecular biology reports · 2012Pooled it
- MDM2 SNP309 polymorphism and breast cancer risk: a meta-analysis.Molecular biology reports · 2012Pooled it
- MDM2 SNP309, gene-gene interaction, and tumor susceptibility: an updated meta-analysis.BMC cancer · 2011Pooled it
- MDM2 promoter SNP55 (rs2870820) affects risk of colon cancer but not breast-, lung-, or prostate cancer.Scientific reports · 2016Trial
- Cis-regulatory and long noncoding RNA alterations in breast cancer - current insights, biomarker utility, and the critical need for functional validation.Molecular oncology · 2026Review
- The MDM2 SNP309 differentially impacts cardiorespiratory fitness in young healthy women and men.European journal of applied physiology · 2025Article
- Associations ofJournal of clinical medicine · 2021Article
- Common genetic variants in the TP53 pathway and their impact on cancer.Journal of molecular cell biology · 2019Review
- Association of theInternational journal of molecular sciences · 2019Article
- Review
- MDM2 promoter polymorphism del1518 (rs3730485) and its impact on endometrial and ovarian cancer risk.BMC cancer · 2017Article
- Article
- The Role of MDM2 Amplification and Overexpression in Tumorigenesis.Cold Spring Harbor perspectives in medicine · 2016Review
- Associations between the MDM2 promoter P1 polymorphism del1518 (rs3730485) and incidence of cancer of the breast, lung, colon and prostate.Oncotarget · 2016Article
- SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers.BMC medical genetics · 2015Article
- Association of p53 rs1042522, MDM2 rs2279744, and p21 rs1801270 polymorphisms with retinoblastoma risk and invasion in a Chinese population.Scientific reports · 2015Article
- Murine Double-Minute 2 Homolog Single Nucleotide Polymorphisms 285 and 309 in Cervical Carcinogenesis.Molecular diagnosis & therapy · 2015Article
- Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).Oncotarget · 2014Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
introductionA functional polymorphism within MDM2, SNP309 T>G, has been linked to early onset cancer. This study examined clinical associations of breast cancer with SNP309 in a Scottish Caucasian population and investigated additional MDM2 intron 1 polymorphisms.
methodsIntron 1 of MDM2 was PCR amplified and directly sequenced from 299 breast cancer patients and 275 cancer free controls and compared with clinical and pathological parameters.
resultsSNP309 was observed, for the control and breast cancer cohorts respectively, at frequencies of: T/T = 44.7% and 39.5%; G/T = 42.2% and 47.2%; G/G = 13.1% and 13.4%, indicating that SNP309 is not a predisposing factor for breast cancer. The 309G/G genotype was associated with high grade tumours (OR = 1.64, 95%CI = 1.06-2.53, p = 0.025) and greater nodal involvement (OR = 2.51, 95%CI = 1.26-4.98, p = 0.009). SNP309 was not associated with an earlier age of cancer diagnosis. No association was observed between genotype and age of breast cancer diagnosis when patients were stratified by menopausal status and estrogen receptor status. Three additional low frequency SNPs were identified: 344T>A, 285G>C and 443G>T, the latter two novel. SNP285 was in complete linkage disequilibrium with SNP309 (D' = 1.0) with the minor alleles being in phase with each other. Moreover, the 285C/C, 309G/G double homozygous genotype was only observed in the breast cancer cohort.
conclusionSNP309G/G is associated with poor prognostic breast cancer features in the Scottish population. Additionally, a novel SNP, SNP285, that is in linkage disequilibrium with SNP309, may also have a role in breast tumorigenesis.
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