ArticleBreast cancer research and treatment2008
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
Article in Breast cancer research and treatment, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis.BMC cancer · 2021Pooled 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
- Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants inJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis.Cancer cell international · 2021Review
- Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?Breast cancer (Dove Medical Press) · 2021Review
- Review
- Characteristics of myeloproliferative neoplasms in patients exposed to ionizing radiation following the Chernobyl nuclear accident.American journal of hematology · 2019Article
- Identification of therapeutic targets in chordoma through comprehensive genomic and transcriptomic analyses.Cold Spring Harbor molecular case studies · 2018Article
- ATM in breast and brain tumors: a comprehensive review.Cancer biology & medicine · 2018Article
- Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.Cancer medicine · 2018Article
- Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.BMC cancer · 2018Article
- Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.PLoS genetics · 2018Article
- ATM gene mutations in sporadic breast cancer patients from Brazil.SpringerPlus · 2015Article
- 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
- Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2010Article
- Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.American journal of human genetics · 2009Article
- Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.Human mutation · 2009Article
- Variants in the ATM gene and breast cancer susceptibility.Genome medicine · 2009Article
- Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.Cancer research · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heterozygous carriers of ATM mutations are at increased risk of breast cancer. In this case-control study, we evaluated the significance of germline ATM missense variants to the risk of contralateral breast cancer (CBC). We have determined the spectrum and frequency of ATM missense variants in 443 breast cancer patients diagnosed before age 50, including 247 patients who subsequently developed CBC. Twenty-one per cent of the women with unilateral breast cancer and 17% of the women with CBC had at least one ATM germline missense variant, indicating no significant difference in variant frequency between these two groups. We have found that carriers of an ATM missense mutation, who were treated with radiotherapy for the first breast tumour, developed their second tumour on average in a 92-month interval compared to a 136-month mean interval for those CBC patients who neither received RT nor carried a germline variant, (p = 0.029). Our results indicate that the presence of ATM variants does not have a major impact on the overall risk of CBC. However, the combination of RT and (certain) ATM missense variants seems to accelerate tumour development.
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Registered trials
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.