Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2812fs
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ATM

NM_000051.4:p.S2812fs

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › PVs

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Dr. Kinase: predicting the drug-resistance hotspots of protein kinases.

Lin S et al.

Nucleic Acids Research, 2025

40308214 (PubMed )
Supplement: gkaf366_supplemental_file.zip › Supplementary_Table_S1.xlsx › Table_S1

Comprehensive genomic dependency landscape of a human colon cancer organoid.

Khalili S et al.

Communications Biology, 2025

40082551 (PubMed )
Supplement: 42003_2025_7822_MOESM5_ESM.xlsx › Sheet1

A woman with a pleural mesothelioma and an inherited ATM mutation-a case report.

Seca M et al.

Annals of Translational Medicine, 2025

Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.

Zhou N et al.

Journal of Translational Medicine, 2025

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.

Wallen ZD et al.

Frontiers in Genetics, 2025

40385986 (PubMed )
Supplement: Supplementaryfile1.xlsx › Supplementary_Table_3

PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.

Cokpinar S et al.

Journal of Clinical Medicine, 2024

39685930 (PubMed )
Supplement: jcm-13-07472-s001.zip › jcm-3207376-supplementary.pdf

The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.

Deek MP et al.

European Urology, 2021

33419682 (PubMed )
Supplement: NIHMS1793749-supplement-20.xlsx › Sheet1

Olaparib Monotherapy for Previously Treated Pancreatic Cancer With DNA Damage Repair Genetic Alterations Other Than Germline BRCA Variants: Findings From 2 Phase 2 Nonrandomized Clinical Trials.

Javle M et al.

Jama Oncology, 2021

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s004.xlsx › Table

Family history assessment significantly enhances delivery of precision medicine in the genomics era.

Bylstra Y et al.

Genome Medicine, 2021

Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.

Betti M et al.

Genes, Chromosomes & Cancer, 2018

Molecular Profiling of Synchronous Colon Cancers and Anaplastic Thyroid Cancer in a Patient with Lynch Syndrome.

Johnson JM et al.

Journal of Gastrointestinal Cancer, 2018

Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma.

Betti M et al.

Cancer Letters, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."