Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D2720H
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ATM

NM_000051.4:p.D2720H

Associated Papers

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_5.xlsx › Sheet1

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Renault AL et al.

Breast Cancer Research : Bcr, 2018

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1B

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Li J et al.

Journal of Medical Genetics, 2016

Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

Loughrey M et al.

Pathology, 2008

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