Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D1853V
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ATM

NM_000051.4:p.D1853V

Associated Papers

Molecular Characterization of Adult-Type Lower-Grade Glioma (WHO Grade 1-3) with Targeted Next-Generation Sequencing: A Retrospective, Single-Institution Experience.

Pinamonti M et al.

Journal of Clinical Medicine, 2025

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

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_S2

Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework.

Hanenberg H et al.

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

Profiling genetic mutations in the DNA damage repair genes of oral squamous cell carcinoma patients from Pakistan.

Naeem W et al.

Scientific Reports, 2025

Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2025

39315505 (PubMed )
Supplement: PCMR-38-0-s002.xlsx › Table_S2

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

Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.

Lafraoui I et al.

International Journal of Molecular Sciences, 2024

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 2024

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.

Villacis RAR et al.

International Journal of Molecular Sciences, 2024

Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.

Kurkilahti V et al.

Cancers, 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

Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.

Petiti J et al.

International Journal of Molecular Sciences, 2024

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

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.

Zhunussova G et al.

Oncotarget, 2023

37791908 (PubMed )
Supplement: oncotarget-14-28518-s004.xlsx › Supplementary_Table_3

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_S7

Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies.

Aktas T et al.

Frontiers in Bioscience (landmark Edition), 2023

Modeling the novel SERD elacestrant in cultured fulvestrant-refractory HR-positive breast circulating tumor cells.

Dubash TD et al.

Breast Cancer Research and Treatment, 2023

37318638 (PubMed )
Supplement: 10549_2023_6998_MOESM1_ESM.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__

A Gene Panel Associated With Abemaciclib Utility in ESR1-Mutated Breast Cancer After Prior Cyclin-Dependent Kinase 4/6-Inhibitor Progression.

Brett JO et al.

Jco Precision Oncology, 2023

Whole-genome sequencing of 20 cholangiocarcinoma cases reveals unique profiles in patients with cirrhosis and primary sclerosing cholangitis.

Holzapfel N et al.

Journal of Gastrointestinal Oncology, 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

Clinically relevant glioblastoma patient-derived xenograft models to guide drug development and identify molecular signatures.

Alcaniz J et al.

Frontiers in Oncology, 2023

37114125 (PubMed )
Supplement: Table_1.xlsx › Mutations

Molecular Basis and Rationale for the Use of Targeted Agents and Immunotherapy in Sinonasal Cancers.

Esposito A et al.

Journal of Clinical Medicine, 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

Genetic Profiling of Colorectal Carcinomas of Patients with Primary Sclerosing Cholangitis and Inflammatory Bowel Disease.

de Krijger M et al.

Inflammatory Bowel Diseases, 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

Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.

Stubbins RJ et al.

Current Hematologic Malignancy Reports, 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

Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.

Maurya N et al.

Scientific Reports, 2022

35396491 (PubMed )
Supplement: 41598_2022_9864_MOESM9_ESM.xlsx › Sheet1

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

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.

Çakır AY et al.

Turkish Journal of Medical Sciences, 2022

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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."