ArticleHuman mutation2006
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.
Article in Human mutation, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.Journal of cellular and molecular medicine · 2026Pooled it
- Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.Human genomics · 2023Article
- Ataxia telangiectasia mutated germline pathogenic variant in adrenocortical carcinoma.Cancer genetics · 2021Article
- Detection of activating mutations in liquid biopsy of Egyptian breast cancer patients using targeted next-generation sequencing: a pilot study.Journal of the Egyptian National Cancer Institute · 2021Article
- Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene.Experimental and therapeutic medicine · 2021Article
- Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.International journal of cancer · 2020Article
- Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- ATM Dysfunction in Pancreatic Adenocarcinoma and Associated Therapeutic Implications.Molecular cancer therapeutics · 2019Review
- Characteristics of myeloproliferative neoplasms in patients exposed to ionizing radiation following the Chernobyl nuclear accident.American journal of hematology · 2019Article
- ATM in breast and brain tumors: a comprehensive review.Cancer biology & medicine · 2018Article
- A multiplex preclinical model for adenoid cystic carcinoma of the salivary gland identifies regorafenib as a potential therapeutic drug.Scientific reports · 2017Article
- WSB1 overcomes oncogene-induced senescence by targeting ATM for degradation.Cell research · 2017Article
- Towards standardization of next-generation sequencing of FFPE samples for clinical oncology: intrinsic obstacles and possible solutions.Journal of translational medicine · 2017Article
- Advancement of mass spectrometry-based proteomics technologies to explore triple negative breast cancer.Molecular bioSystems · 2016Review
- Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.Journal of experimental & clinical cancer research : CR · 2016Article
- Genomic Biomarkers for Breast Cancer Risk.Advances in experimental medicine and biology · 2016Review
- Whole-genome sequencing of tibetan macaque (Macaca Thibetana) provides new insight into the macaque evolutionary history.Molecular biology and evolution · 2014Article
- Article
- Concordance of gene expression in human protein complexes reveals tissue specificity and pathology.Nucleic acids research · 2013Article
- p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.The Journal of clinical investigation · 2013Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
Homozygous mutation in the ATM gene causes ataxia telangiectasia and heterozygous mutation carriers may be at increased risk of breast cancer. We studied a total of 22 ATM variants; 18 variants were analyzed in one of two large population-based studies from the U.S. and Poland, and four variants were analyzed in all 2,856 breast cancer cases and 3,344 controls from the two studies. The missense mutation Ser49Cys (c.146C>G, p.S49C), carried by approximately 2% of subjects, was more common in cases than controls in both study populations, combined odds ratio (OR) 1.69 (95% CI, 1.19-2.40; P=0.004). Another missense mutation at approximately 2% frequency, Phe858Leu (c.2572T>C, p.F858L), was associated with a significant increased risk in the U.S. study but not in Poland, and had a combined OR of 1.44 (95% CI, 0.98-2.11; P=0.06). These analyses provide the most convincing evidence thus far that missense mutations in ATM, particularly p.S49C, may be breast cancer susceptibility alleles. Because of their low frequency, even larger sample sizes are required to more firmly establish these associations.
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