Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.F858L
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ATM

NM_000051.4:p.F858L

Associated Papers

Malignant adenomyoepithelioma with HRAS G13R mutation: A case report.

Kuwabara H et al.

Oncology Letters, 2026

Olaparib for patients with tumors harboring alterations in homologous recombination repair genes: Results from the drug rediscovery protocol.

Spiekman IAC et al.

International Journal of Cancer, 2026

41099623 (PubMed )
Supplement: IJC-158-1617-s003.xlsx › Cohort_A

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM2_ESM.xlsx › cfDNA_Variants

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

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Variant_Calls

Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.

Ahmad RM et al.

Briefings in Bioinformatics, 2025

41263939 (PubMed )
Supplement: supplementary_materials_bbaf611_1_.zip › Supplementary_materials_bbaf611 › Supplementary_Table_S8.xlsx › Sheet1

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

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Utilizing Patient-Derived Xenografts to Model Precision Oncology for Biliary Tract Cancer.

DiPeri TP et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39513959 (PubMed )
Supplement: ccr-24-1233_supplementary_tables_1_-_8_suppts1.xlsx › Table_S3

Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.

Lemberger U et al.

European Urology Open Science, 2025

39717660 (PubMed )
Supplement: mmc4.xlsx › Raw_data

Coding Variants of the Genitourinary Development Gene WNT9B Carry High Risk for Prostate Cancer.

Dupont WD et al.

Jco Precision Oncology, 2025

Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.

Wagner JT et al.

Frontiers in Molecular Biosciences, 2025

41158875 (PubMed )
Supplement: DataSheet1.xlsx › D

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.

Chow RD et al.

Npj Precision Oncology, 2024

39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3

A clinically compatible in vitro drug-screening platform identifies therapeutic vulnerabilities in primary cultures of brain metastases.

Jeising S et al.

Journal of Neuro-oncology, 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

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.

López-Oreja I et al.

Hemasphere, 2023

37746159 (PubMed )
Supplement: hs9-7-e962-s002.xlsx › Table_S6

Molecular characteristics of low-grade serous carcinoma in effusions.

Doutel D et al.

Cytopathology : Official Journal of the British Society for Clinical Cytology, 2023

Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.

Vanni I et al.

International Journal of Molecular Sciences, 2023

36901733 (PubMed )
Supplement: ijms-24-04302-s001.zip › Supplementary_data._xls.xlsx › Foglio1

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

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.

Lieb V et al.

Cells, 2022

Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism.

Maas EJ et al.

The Journal of Dermatology, 2022

NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial.

Rosa-Rosa JM et al.

Cancers, 2022

36291952 (PubMed )
Supplement: cancers-14-05169-s001.zip › cancers-1947661-supplementary › Supplementary_Tables.xlsx › Supplementary_Table_S3

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S2.xlsx › Supplementary_Table_2

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

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST2_Germline_Variants

Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.

Prieto-Potin I et al.

Diagnostics (basel, Switzerland), 2022

36010253 (PubMed )
Supplement: diagnostics-12-01903-s001.zip › Table_S3._OCA_v3_RAW_DATA.xlsx › GENERAL

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Sobel Naveh NS et al.

Hepatology Communications, 2022

35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

Atypical thymomas with squamoid and spindle cell features: clinicopathologic, immunohistochemical and molecular genetic study of 120 cases with long-term follow-up.

Suster DI et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

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

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM1_ESM.docx

Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.

Cani AK et al.

Molecular Oncology, 2022

34866317 (PubMed )
Supplement: MOL2-16-1969-s001.pdf

Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0.

Messaoudi SA et al.

Biomedical Reports, 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

Effective Menin inhibitor-based combinations against AML with MLL rearrangement or NPM1 mutation (NPM1c).

Fiskus W et al.

Blood Cancer Journal, 2022

35017466 (PubMed )
Supplement: 41408_2021_603_MOESM1_ESM.pdf

Recommendations for Specimen and Therapy Selection in Colorectal Cancer.

Patel SB et al.

Oncology and Therapy, 2021

33895946 (PubMed )
Supplement: 40487_2021_151_MOESM1_ESM.pdf

Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › variant_score

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

Molecular basis of human ATM kinase inhibition.

Stakyte K et al.

Nature Structural & Molecular Biology, 2021

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."