ArticleSpringerPlus2015
ATM gene mutations in sporadic breast cancer patients from Brazil.
Article in SpringerPlus, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 3 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 3 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.Statistics in medicine · 2025Pooled it
- Bayesian meta-analysis of penetrance for cancer risk.Biometrics · 2024Pooled it
- Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.Genetic epidemiology · 2016Pooled it
- Clinico-genomic findings, molecular docking, and mutational spectrum in an understudied population with breast cancer patients from KP, Pakistan.Frontiers in genetics · 2024Article
- Identification of Two Novel Pathogenic Variants of theCurrent genomics · 2023Article
- Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.Advances in laboratory medicine · 2023Article
- Article
- Breast cancer risks associated with missense variants in breast cancer susceptibility genes.Genome medicine · 2022Article
- Overview of the genetic basis toward early detection of breast cancer.Breast cancer (Dove Medical Press) · 2019Review
- Association of ATM and BMI-1 genetic variation with breast cancer risk in Han Chinese.Journal of cellular and molecular medicine · 2018Observational
- Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.BMC cancer · 2018Article
- Volatile metabolomic signature of human breast cancer cell lines.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe Ataxia-telangiectasia mutated (ATM) gene encodes a multifunctional kinase, which is linked to important cellular functions. Women heterozygous for ATM mutations have an estimated relative risk of developing breast cancer of 3.8. However, the pattern of ATM mutations and their role in breast cancer etiology has been controversial and remains unclear. In the present study, we investigated the frequency and spectrum of ATM mutations in a series of sporadic breast cancers and controls from the Brazilian population.
methodsUsing PCR-Single Strand Conformation Polymorphism (SSCP) analysis and direct DNA sequencing, we screened a panel of 100 consecutive, unselected sporadic breast tumors and 100 matched controls for all 62 coding exons and flanking introns of the ATM gene.
resultsSeveral polymorphisms were detected in 12 of the 62 coding exons of the ATM gene. These polymorphisms were observed in both breast cancer patients and the control population. In addition, evidence of potential ATM mutations was observed in 7 of the 100 breast cancer cases analyzed. These potential mutations included six missense variants found in exon 13 (p.L546V), exon 14 (p.P604S), exon 20 (p.T935R), exon 42 (p.G2023R), exon 49 (p.L2307F), and exon 50 (p.L2332P) and one nonsense mutation in exon 39 (p.R1882X), which was predicted to generate a truncated protein.
conclusionsOur results corroborate the hypothesis that sporadic breast tumors may occur in carriers of low penetrance ATM mutant alleles and these mutations confer different levels of breast cancer risk.
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