ArticleAmerican journal of human genetics1998
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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Who cites it
34 citing papers in PubMed, 170 citations in OpenAlex.
- DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype.Scientific reports · 2020Trial
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- Article
- Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.Frontiers in neurology · 2024Article
- PLX038: A Long-Acting Topoisomerase I Inhibitor With Robust Antitumor Activity in ATM-Deficient Tumors and Potent Synergy With PARP Inhibitors.Molecular cancer therapeutics · 2022Article
- Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.The Journal of pathology · 2022Article
- A NovelMolecular syndromology · 2022Article
- TREC/KREC levels in children with ataxia-telangiectasia.Immunologic research · 2021Article
- Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy.Journal of the National Cancer Institute · 2021Article
- Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers.Cancer · 2020Article
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.Neurogenetics · 2020Article
- Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.Scientific reports · 2019Article
- Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T.Molecular medicine reports · 2019Article
- A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.Journal of clinical neurology (Seoul, Korea) · 2018Article
- Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.Journal of clinical immunology · 2018Article
- Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.Cancer medicine · 2018Article
- Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.Neuromolecular medicine · 2017Article
- Ataxia telangiectasia: a review.Orphanet journal of rare diseases · 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
- Ten new ATM alterations in Polish patients with ataxia-telangiectasia.Molecular genetics & genomic medicine · 2014Article
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 6 countries.
Funding
Abstract
To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases, such as breast cancer, we have attempted to define the most common mutations and their frequencies in ataxia-telangiectasia (A-T) homozygotes from 10 ethnic populations. Both genomic mutations and their effects on cDNA were characterized. Protein-truncation testing of the entire ATM cDNA detected 92 (66%) truncating mutations in 140 mutant alleles screened. The haplotyping of patients with identical mutations indicates that almost all of these represent common ancestry and that very few spontaneously recurring ATM mutations exist. Assays requiring minimal amounts of genomic DNA were designed to allow rapid screening for common ethnic mutations. These rapid assays detected mutations in 76% of Costa Rican patients (3), 50% of Norwegian patients (1), 25% of Polish patients (4), and 14% of Italian patients (1), as well as in patients of Amish/Mennonite and Irish English backgrounds. Additional mutations were observed in Japanese, Utah Mormon, and African American patients. These assays should facilitate screening for A-T heterozygotes in the populations studied.
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