ArticleBreast cancer research : BCR2005
Mutation analysis of the ATR gene in breast and ovarian cancer families.
Article in Breast cancer research : BCR, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
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- Predictive modeling of gene mutations for the survival outcomes of epithelial ovarian cancer patients.PloS one · 2024Article
- Olaparib-ResistantCells · 2023Article
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- Epigenetic based synthetic lethal strategies in human cancers.Biomarker research · 2020Review
- High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.NPJ genomic medicine · 2019Article
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- McTwo: a two-step feature selection algorithm based on maximal information coefficient.BMC bioinformatics · 2016Article
- Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.BMC cancer · 2016Article
- Development of serous ovarian cancer is associated with the expression of homologous recombination pathway proteins.Pathology oncology research : POR · 2014Article
- Candidate tumor suppressor BTG3 maintains genomic stability by promoting Lys63-linked ubiquitination and activation of the checkpoint kinase CHK1.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Loss of BRCA1 expression leads to worse survival in patients with gastric carcinoma.World journal of gastroenterology · 2013Article
- Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.BMC cancer · 2006Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMutations in BRCA1, BRCA2, ATM, TP53, CHK2 and PTEN account for only 20-30% of the familial aggregation of breast cancer, which suggests the involvement of additional susceptibility genes. The ATR (ataxia-telangiectasia- and Rad3-related) kinase is essential for the maintenance of genomic integrity. It functions both in parallel and cooperatively with ATM, but whereas ATM is primarily activated by DNA double-strand breaks induced by ionizing radiation, ATR has been shown to respond to a much broader range of DNA damage. Upon activation, ATR phosphorylates several important tumor suppressors, including p53, BRCA1 and CHK1. Based on its central function in the DNA damage response, ATR is a plausible candidate gene for susceptibility to cancer.
methodsWe screened the entire coding region of the ATR gene for mutations in affected index cases from 126 Finnish families with breast and/or ovarian cancer, 75 of which were classified as high-risk and 51 as moderate-risk families, by using conformation sensitive gel electrophoresis and direct sequencing.
resultsA large number of novel sequence variants were identified, four of which -- Glu254Gly, Ser1142Gly, IVS24-48G>A and IVS26+15C>T -- were absent from the tested control individuals (n = 300). However, the segregation of these mutations with the cancer phenotype could not be confirmed, partly because of the lack of suitable DNA samples.
conclusionThe present study does not support a major role for ATR mutations in hereditary susceptibility to breast and ovarian cancer.
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