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ATM R2443Q
GeneATM
Variantmissense
Amino Acid ChangeR2443Q
Transcript ID (GRCh37/hg19)ENST00000278616
Codon2443
Exon50
Genomic Coordinates (GRCh37/hg19)11:108200961-108200961
COSMIC ID20404
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 3
ATM
Variants
ATM R2443Q
Primary Sites
Bladder
Tumor Types
Urothelial Carcinoma
Interpretation

ATM alterations have been reported as germline variants which predispose to inherited cancer syndromes and as somatic (acquired) variants in tumors. ATM is part of many signalling networks, including cell metabolism and growth, oxidative stress, and chromatin remodelling, all of which can affect cancer progression. Although ATM is considered to be a tumour suppressor, ATM signaling may be advantageous to cancer cells in some settings, particularly in resistance to radio- and chemotherapeutic treatment. For this reason, the use of ATM inhibitors in cancer therapy is under exploration. Genetic alterations in ATM have been reported in ~15% of urothelial carcinomas. However, the significance of this particular variant (R2443Q) is unknown, according to ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/142211/)

Last updated: 2018-10-11 19:02:39 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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