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ATM P2699S
GeneATM
Variantmissense
Amino Acid ChangeP2699S
Transcript ID (GRCh37/hg19)ENST00000278616
Codon2699
Exon55
Genomic Coordinates (GRCh37/hg19)11:108205780-108205780
COSMIC ID132865
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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ATM
Variants
ATM P604S
ATM A1309T
ATM F858L
ATM P2699S
Primary Sites
Lung
Breast
Colon
Rectum
Unknown
Esophagus
Stomach
Tumor Types
Adenocarcinoma
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.

Last updated: 2019-01-22 18:50:49 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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