Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D2721N
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ATM

NM_000051.4:p.D2721N

Associated Papers

Noninvasive genotyping and early disease dynamics demonstrate the efficacy of ibrutinib in combination with immunochemotherapy in patients with mantle cell lymphoma treated in the TRIANGLE trial.

Khouja M et al.

Leukemia, 2026

41184633 (PubMed )
Supplement: 41375_2025_2787_MOESM2_ESM.xlsx › Table_S5

Complex genetic landscape in CLL: Clinical impact on patients' survival and insights into the altered molecular pathways.

Caputo C et al.

Molecular Therapy. Oncology, 2025

41035777 (PubMed )
Supplement: mmc1.pdf

ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.

Thorvaldsdottir B et al.

Leukemia, 2025

40275070 (PubMed )
Supplement: 41375_2025_2615_MOESM2_ESM.xlsx › Supplemental_Table_S3

Multiplexed in vivo base editing identifies functional gene-variant-context interactions.

Acosta J et al.

Biorxiv : the Preprint Server for Biology, 2025

40060482 (PubMed )
Supplement: media-4.xlsx › Table_S2A

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S3.xlsx › Sheet1

A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.

Marques Da Costa ME et al.

Communications Biology, 2023

37723198 (PubMed )
Supplement: 42003_2023_5320_MOESM4_ESM.xlsx › Suppl._Data_1

Spatial transcriptomics reveal topological immune landscapes of Asian head and neck angiosarcoma.

Loh JW et al.

Communications Biology, 2023

37106027 (PubMed )
Supplement: 42003_2023_4856_MOESM5_ESM.xlsx › Supplementary_Data_2

Genomic profiles of renal cell carcinoma in a small Chinese cohort.

Tai S et al.

Frontiers in Oncology, 2023

37427096 (PubMed )
Supplement: Table_1.xls › Sheet1

Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing.

Salomon-Perzyński A et al.

Biomedicines, 2022

35884979 (PubMed )
Supplement: biomedicines-10-01674-s001.zip › Table_S2.xlsx › table_S2

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_7.xlsx › Sheet1

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.

Advantages and Limitations of Monitoring Circulating Tumor DNA Levels to Predict the Prognosis of Patients Diagnosed With Gastric Cancer.

He W et al.

Biomarker Insights, 2022

36533271 (PubMed )
Supplement: sj-xlsx-2-bmi-10.1177_11772719221141525.xlsx › mutation_list_of_the_former_22_

Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets.

Rodrigues JM et al.

Leukemia & Lymphoma, 2021

34080947 (PubMed )
Supplement: supplement_1.xlsx › Table_S6._Predicted_drivers

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s002.xlsx › Sheet1

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Tausch E et al.

Haematologica, 2020

33054084 (PubMed )
Supplement: 2019.229161.TAUSCH_SUPPL.pdf

First reported case of BRAF V600E mutation in T-cell prolymphocytic leukaemia.

Dong S et al.

British Journal of Haematology, 2020

Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Hayashi H et al.

Cancer Science, 2020

32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S2

Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.

Mazzotta M et al.

Journal for Immunotherapy of Cancer, 2020

32759236 (PubMed )
Supplement: jitc-2020-000946supp001.xlsx › all_prediction_score_merged

Clinical utility of FoundationOne tissue molecular profiling in men with metastatic prostate cancer.

Zhu J et al.

Urologic Oncology, 2019

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.4_Deleterious_SNV__indels

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Bolli N et al.

Leukemia, 2018

29789651 (PubMed )
Supplement: 41375_2018_37_MOESM14_ESM.xlsx › supp_Table1

ATM function and its relationship with ATM gene mutations in chronic lymphocytic leukemia with the recurrent deletion (11q22.3-23.2).

Jiang Y et al.

Blood Cancer Journal, 2016

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

Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.

Kortuem KM et al.

Blood Cancer Journal, 2016

26918361 (PubMed )
Supplement: bcj20161x1.pdf

Genomic Profile of Chronic Lymphocytic Leukemia in Korea Identified by Targeted Sequencing.

Kim JA et al.

Plos One, 2016

Identification and characterization of cancer mutations in Japanese lung adenocarcinoma without sequencing of normal tissue counterparts.

Suzuki A et al.

Plos One, 2013

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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."