Rare germline ATM variants of uncertain significance in chronic lymphocytic leukaemia and other cancers
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DOI: 10.1111/bjh.18419
Abstract: Germline pathogenic ATM (ataxia‐telangiectasia mutated) variants are associated with the risk of multiple cancers; however, genetic testing reveals a large number of ATM variants of uncertain significance (VUS). Here, we studied germline ATM variants occurring… read more here.
Keywords: vus; germline atm; atm variants; rare germline ... See more keywords
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia
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DOI: 10.1200/jco.22.00269
Abstract: PURPOSE Germline missense variants of unknown significance in cancer-related genes are increasingly being identified with the expanding use of next-generation sequencing. The ataxia telangiectasia–mutated (ATM) gene on chromosome 11 has more than 1,000 germline missense… read more here.
Keywords: germline atm; atm variants; patients cll; rare germline ... See more keywords
Niraparib as Maintenance Therapy in Germline ATM-mutated and Somatic BRCA2-mutated Ovarian Cancer with Brain Metastases: A Case Report and Literature Review
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DOI: 10.2147/ott.s281302
Abstract: Abstract Brain metastases from epithelial ovarian cancer are very rare with an incidence of only 1–2.5%. Many therapeutic methods such as surgery, irradiation and chemotherapy do produce survival benefits, but the overall outcome remains unsatisfactory.… read more here.
Keywords: cancer brain; ovarian cancer; cancer; germline atm ... See more keywords