Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2307F
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ATM

NM_000051.4:p.L2307F

Associated Papers

Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.

Meyer R et al.

Blood Cancer Journal, 2026

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

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

Investigating the influence of germline ATM variants in chronic lymphocytic leukemia on cancer vulnerability.

Azevedo RS et al.

Haematologica, 2025

Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.

Elbadry MI et al.

Annals of Hematology, 2025

Biological and therapeutic implications of the cancer-related germline mutation landscape in lung cancer.

Panagiotou E et al.

The Lancet. Respiratory Medicine, 2024

Long-telomeropathy is associated with tumor predisposition syndrome.

Allaire P et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

The Impact of Genetic Mutations on the Efficacy of Immunotherapies in Lung Cancer.

Lui K et al.

International Journal of Molecular Sciences, 2024

Recent Advances in the Molecular Biology of Chronic Lymphocytic Leukemia: How to Define Prognosis and Guide Treatment.

Arcari A et al.

Cancers, 2024

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_4_TS_SNV

Evaluation of the ATM L2307F germline variant in 121 Italian pedigrees with familial myeloproliferative neoplasms.

Borsani O et al.

Haematologica, 2024

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.

Saunders EJ et al.

European Urology Oncology, 2024

38458890 (PubMed )
Supplement: NIHMS2085376-supplement-Supplementary_Tables.xlsx › Supp_Table_3

Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax.

Jain N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Lung cancer in patients who have never smoked - an emerging disease.

LoPiccolo J et al.

Nature Reviews. Clinical Oncology, 2024

Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

Chrysafi P et al.

Cancers, 2023

The Role of Germline Mutations in Thoracic Malignancies: Between Myth and Reality.

Farinea G et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2023

Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.

Borcoman E et al.

International Journal of Molecular Sciences, 2023

37511329 (PubMed )
Supplement: ijms-24-11570-s001.zip › ijms-2309018-supplementary.pdf

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Correction: Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.

Demidova EV et al.

Bmc Genomics, 2023

37430226 (PubMed )
Supplement: 12864_2023_9486_MOESM1_ESM.xlsx › Supplementary_Table_2

Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.

Demidova EV et al.

Bmc Genomics, 2023

37095444 (PubMed )
Supplement: 12864_2023_9310_MOESM1_ESM.zip › Supplementary_Table.1_and_2.xlsx › Supplementary_Table_2

Recurrent germline variant in ATM associated with familial myeloproliferative neoplasms.

Braunstein EM et al.

Leukemia, 2023

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.

Lampson BL et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023

Druggable genomic landscapes of high-grade gliomas.

Ghanem P et al.

Frontiers in Medicine, 2023

38143440 (PubMed )
Supplement: Table_1.xlsx › ST5

Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.

Laitman Y et al.

Breast Cancer Research and Treatment, 2022

Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomes.

Jiang X et al.

Genes, Chromosomes & Cancer, 2022

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.

Mukherjee S et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology.

Adib E et al.

Genome Medicine, 2022

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Vela V et al.

Virchows Archiv : an International Journal of Pathology, 2022

34494161 (PubMed )
Supplement: 428_2021_3186_MOESM21_ESM.xlsx › Supplementary_Table_8

Lung cancer is also a hereditary disease.

Benusiglio PR et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2021

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Dalmasso B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Magistri M et al.

Cancer Research Communications, 2021

35528192 (PubMed )
Supplement: crc-21-0022-s05.xlsx › Fig3_pathway_variants

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_2.xlsx › Sheet1
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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."