Bi-allelic amplification of ATM gene in blastoid variant of mantle cell lymphoma: a novel mechanism of inactivation due to chromoanagenesis?
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DOI: 10.1186/s13039-020-00526-x
Abstract: Background Mantle cell lymphoma (MCL) is derived from naïve CD5+ B-cells with the cytogenetic hallmark translocation 11;14. The presence of additional abnormalities is associated with blastoid variants in MCL (BMCL) and confers a poor prognosis.… read more here.
Keywords: mantle cell; atm gene; amplification; cell lymphoma ... See more keywords
A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia
Sign Up to like & getrecommendations! Published in 2018 at "Iranian Journal of Child Neurology"
DOI: 10.22037/ijcn.v12i4.15397
Abstract: Objectives Ataxia telangiectasia (AT) is a rare autosomal recessive disorder caused by mutation in the Ataxia telangiectasia mutated (ATM) gene. This disorder is characterized by progressive cerebellar ataxia, telangiectasia, immunodeficiency and a predisposition to leukemia/lymphoma.… read more here.
Keywords: splice site; ataxia telangiectasia; atm gene; mutation ... See more keywords
Analysis of Clinical and Genetic Characterization of Three Ataxia–Telangiectasia Pedigrees With Novel ATM Gene Mutations
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.877826
Abstract: Objective The clinical manifestations of ataxia–telangiectasia (AT) are very complex and are easily misdiagnosed and missed. The purpose of this study was to explore the clinical characteristics and genetic features of five pediatric patients with… read more here.
Keywords: ataxia telangiectasia; telangiectasia; five patients; atm gene ... See more keywords
The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice
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DOI: 10.3390/genes12050727
Abstract: Molecular alterations of the Ataxia-telangiectasia (AT) gene are frequently detected in breast cancer (BC), with an incidence ranging up to 40%. The mutated form, the Ataxia-telangiectasia mutated (ATM) gene, is involved in cell cycle control,… read more here.
Keywords: gene; gene breast; atm gene; breast cancer ... See more keywords