ArticleBMC cancer2008
Association of common ATM variants with familial breast cancer in a South American population.
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 25 papers, 6 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 6 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Polymorphism rs1801516 (G > A) in theThe Journal of international medical research · 2020Pooled it
- Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.BMC cancer · 2018Pooled it
- Pooled it
- Association between ATM 5557G>A polymorphism and breast cancer risk: a meta-analysis.Molecular biology reports · 2012Pooled it
- Pooled it
- The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis.Journal of experimental & clinical cancer research : CR · 2010Pooled it
- Impact on breast cancer susceptibility and clinicopathological traits of common genetic polymorphisms inOncology letters · 2022Article
- Review
- Non-Journal of global oncology · 2019Article
- Review
- Article
- ATM in breast and brain tumors: a comprehensive review.Cancer biology & medicine · 2018Article
- Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.BMC cancer · 2018Article
- Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.Biological research · 2017Review
- Genomic Disparities in Breast Cancer Among Latinas.Cancer control : journal of the Moffitt Cancer Center · 2016Article
- Article
- Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast cancer in a South-American population.Molecular biology reports · 2014Article
- Molecular defects in Moroccan patients with ataxia-telangiectasia.Neuromolecular medicine · 2013Article
- Variations of the ataxia telangiectasia mutated gene in patients with chronic lymphocytic leukemia lack substantial impact on progression-free survival and overall survival: a Cancer and Leukemia Group B study.Leukemia & lymphoma · 2012Article
- Interaction between polymorphisms of DNA repair genes significantly modulated bladder cancer risk.International journal of medical sciences · 2012Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe ATM gene has been frequently involved in hereditary breast cancer as a low-penetrance susceptibility gene but evidence regarding the role of ATM as a breast cancer susceptibility gene has been contradictory.
methodsIn this study, a full mutation analysis of the ATM gene was carried out in patients from 137 Chilean breast cancer families, of which 126 were BRCA1/2 negatives and 11 BRCA1/2 positives. We further perform a case-control study between the subgroup of 126 cases BRCA1/2 negatives and 200 controls for the 5557G>A missense variant and the IVS38-8T>C and the IVS24-9delT polymorphisms.
resultsIn the full mutation analysis we detected two missense variants and eight intronic polymorphisms. Carriers of the variant IVS24-9delT, or IVS38-8T>C, or 5557G>A showed an increase in breast cancer risk. The higher significance was observed in the carriers of IVS38-8T>C (OR = 3.09 [95%CI 1.11-8.59], p = 0.024). The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype confered a 3.19 fold increase in breast cancer risk (OR = 3.19 [95%CI 1.16-8.89], p = 0.021). The haplotype estimation suggested a strong linkage disequilibrium between the three markers (D' = 1). We detected only three haplotypes in the cases and control samples, some of these may be founder haplotypes in the Chilean population.
conclusionThe IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype alone or in combination with certain genetic background and/or environmental factors, could modify the cancer risk by increasing genetic instability or by altering the effect of the normal DNA damage response.
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