ArticleBMC cancer2006
ATM variants and cancer risk in breast cancer patients from Southern Finland.
Article in BMC cancer, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 5 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 5 syntheses or guidelines pooled it, 27 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
- 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
- Article
- The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis.Cancer cell international · 2021Review
- Article
- ATM in breast and brain tumors: a comprehensive review.Cancer biology & medicine · 2018Article
- Evaluation of functional genetic variants for breast cancer risk: results from the Shanghai breast cancer study.American journal of epidemiology · 2011Article
- Alterations in p53, BRCA1, ATM, PIK3CA, and HER2 genes and their effect in modifying clinicopathological characteristics and overall survival of Bulgarian patients with breast cancer.Journal of cancer research and clinical oncology · 2010Article
- Evaluating cancer epidemiologic risk factors using multiple primary malignancies.Epidemiology (Cambridge, Mass.) · 2010Review
- Variants in the ATM gene and breast cancer susceptibility.Genome medicine · 2009Article
- Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer.Journal of cancer research and clinical oncology · 2008Article
- Association of common ATM variants with familial breast cancer in a South American population.BMC cancer · 2008Article
- Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.Radiation oncology (London, England) · 2007Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIndividuals heterozygous for germline ATM mutations have been reported to have an increased risk for breast cancer but the role for ATM genetic variants for breast cancer risk has remained unclear. Recently, a common ATM variant, ATMivs38 -8T>C in cis with the ATMex39 5557G>A (D1853N) variant, was suggested to associate with bilateral breast cancer among familial breast cancer patients from Northern Finland. We have here evaluated the 5557G>A and ivs38-8T>C variants in an extensive case-control association analysis. We also aimed to investigate whether there are other ATM mutations or variants contributing to breast cancer risk in our population.
methodsTwo common ATM variants, 5557G>A and ivs38-8T>C, previously suggested to associate with bilateral breast cancer, were genotyped in an extensive set of 786 familial and 884 unselected breast cancer cases as well as 708 healthy controls. We also screened the entire coding region and exon-intron boundaries of the ATM gene in 47 familial breast cancer patients and constructed haplotypes of the patients. The identified variants were also evaluated for increased breast cancer risk among additional breast cancer cases and controls.
resultsNeither of the two common variants, 5557G>A and ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk, bilateral breast cancer or multiple primary cancers in any of the patient groups or subgoups. Three rare missense alterations and one intronic change were each found in only one patient of over 250 familial patients studied and not among controls. The fourth missense alteration studied further was found with closely similar frequencies in over 600 familial cases and controls.
conclusionAltogether, our results suggest very minor effect, if any, of ATM genetic variants on familial breast cancer in Southern Finland. Our results do not support association of the 5557G>A or ivs38-8T>C variant with increased breast cancer risk or with bilateral breast cancer.
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