Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R248Q
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ATM

NM_000051.4:p.R248Q

Associated Papers

Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.

Jansche R et al.

Cell Death & Disease, 2026

Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.

Iengar P et al.

Computational Biology and Chemistry, 2026

Functional validation of somatic variability in TP53 and KRAS for prediction of platinum sensitivity and prognosis in epithelial ovarian carcinoma patients.

Mohammad AOA et al.

Cancer Biology & Therapy, 2025

Circulating Tumor DNA as a Biomarker for Precision Medicine in Prostate Cancer: A Systematic Review.

Chanhih N et al.

International Journal of Molecular Sciences, 2025

The novel curcumin analogue AKT-100 targets mutant p53 in gynecologic cancer cells.

Williams GL et al.

Biorxiv : the Preprint Server for Biology, 2025

Genomic alterations in pancreatic cystic neoplasms: from molecular characterization to precision clinical management.

Yang S et al.

International Journal of Surgery (london, England), 2025

The Multifaceted Role of p53 in Cancer Molecular Biology: Insights for Precision Diagnosis and Therapeutic Breakthroughs.

Xu B et al.

Biomolecules, 2025

Corrigendum to "POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases": [Modern Pathology 38 (2025) 100676].

Hammer PM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Association of Specific Gene Mutations with Immunoglobulin Heavy-Chain Variable Region and Chromosomal Alterations in Chronic Lymphocytic Leukemia Patients in India.

Mani S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2025

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

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_S2

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › TP53

TP53 mutations predict for poor outcomes in patients with newly diagnosed aggressive B-cell lymphomas in the current era.

Landsburg DJ et al.

Blood Advances, 2023

37851898 (PubMed )
Supplement: BLOODA_ADV-2023-011384-mmc1.pdf

Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.

Balinisteanu I et al.

Biomedicines, 2023

Shared hotspot mutations in oncogenes position dogs as an unparalleled comparative model for precision therapeutics.

Rodrigues L et al.

Scientific Reports, 2023

Overcoming therapeutic resistance in pancreatic cancer: Emerging opportunities by targeting BRCAs and p53.

Calheiros J et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2023

Identification of Genomic Alterations in Thai Patients With Colorectal Cancer Using Next-Generation Sequencing-Based Multigene Cancer Panel.

Jinda W et al.

Cureus, 2023

Targeting p53 pathways: mechanisms, structures, and advances in therapy.

Wang H et al.

Signal Transduction and Targeted Therapy, 2023

The synthetic lethality of targeting cell cycle checkpoints and PARPs in cancer treatment.

Li S et al.

Journal of Hematology & Oncology, 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

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Kim H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022

Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases.

Chen C et al.

Diagnostic Pathology, 2021

Coregulation of pathways in lung cancer patients with EGFR mutation: therapeutic opportunities.

Rosell R et al.

British Journal of Cancer, 2021

The context-specific role of germline pathogenicity in tumorigenesis.

Srinivasan P et al.

Nature Genetics, 2021

Phase 1, pharmacogenomic, dose-expansion study of pegargiminase plus pemetrexed and cisplatin in patients with ASS1-deficient non-squamous non-small cell lung cancer.

Szlosarek PW et al.

Cancer Medicine, 2021

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_15.xlsx › Sheet1

Sensitivity of cells to ATR and CHK1 inhibitors requires hyperactivation of CDK2 rather than endogenous replication stress or ATM dysfunction.

Ditano JP et al.

Scientific Reports, 2021

TP53 Mutations as a Driver of Metastasis Signaling in Advanced Cancer Patients.

Pandey R et al.

Cancers, 2021

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Concurrent TP53 and CDKN2A Gene Aberrations in Newly Diagnosed Mantle Cell Lymphoma Correlate with Chemoresistance and Call for Innovative Upfront Therapy.

Malarikova D et al.

Cancers, 2020

32751805 (PubMed )
Supplement: cancers-12-02120-s001.pdf

Targeting Mutant PPM1D Sensitizes Diffuse Intrinsic Pontine Glioma Cells to the PARP Inhibitor Olaparib.

Wang Z et al.

Molecular Cancer Research : Mcr, 2020

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1

Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

D'Afonseca V et al.

Cancer Informatics, 2020

Do Mutations Turn p53 into an Oncogene?

Pitolli C et al.

International Journal of Molecular Sciences, 2019

Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Dos Santos W et al.

Scientific Reports, 2019

31548566 (PubMed )
Supplement: 41598_2019_49611_MOESM1_ESM.pdf

Hsp70- and Hsp90-Mediated Regulation of the Conformation of p53 DNA Binding Domain and p53 Cancer Variants.

Boysen M et al.

Molecular Cell, 2019

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.

Kaur P et al.

Scientific Reports, 2019

30728399 (PubMed )
Supplement: 41598_2018_37574_MOESM1_ESM.pdf

Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.

Yi D et al.

Human Genomics, 2019

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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."