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ATM
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Interpretation 98
Tier 3
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.

Citations
  1. Fletcher et al. Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls. Cancer Epidemiol Biomarkers Prev. 2010; 19(9): 2143-2151
  2. Mangone et al. ATM gene mutations in sporadic breast cancer patients from Brazil. SpringerPlus DOI 10.1186/s40064-015-0787-z
  3. Cremona et al. ATM signalling and cancer. Oncogene. 2014; 33:3351-3360
  4. Anika Maria Weber et al. ATM and ATR as therapeutic targets in cancer. Pharmacology & Therapeutics. 2015; 129:124-138
Last updated: 2019-01-22 18:50:49 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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