Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E277*
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ATM

NM_000051.4:p.E277*

Associated Papers

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations.

Badalzadeh M et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2025

POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases.

Hammer PM et al.

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

ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.

Salami F et al.

Journal of Clinical Immunology, 2025

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

Mahdieh N et al.

Human Genomics, 2024

Phase II study of nivolumab in patients with genetic alterations in DNA damage repair and response who progressed after standard treatment for metastatic solid cancers (KM-06).

Kim JW et al.

Journal for Immunotherapy of Cancer, 2024

38485184 (PubMed )
Supplement: jitc-2023-008638supp001.pdf

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

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

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Clinical, pathological, and comprehensive molecular analysis of the uterine clear cell carcinoma: a retrospective national study from TMRG and GINECO network.

Nigon E et al.

Journal of Translational Medicine, 2023

37353806 (PubMed )
Supplement: 12967_2023_4264_MOESM5_ESM.xlsx › Feuil1

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_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

Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.

Pourahmadiyan A et al.

The International Journal of Neuroscience, 2022

Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.

Amirifar P et al.

Journal of Clinical Immunology, 2022

34628594 (PubMed )
Supplement: 10875_2021_1147_MOESM1_ESM.docx

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.pdf

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.

Amirifar P et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Magraner-Pardo L et al.

Scientific Reports, 2021

High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.

Kim JE et al.

Experimental & Molecular Medicine, 2021

33753878 (PubMed )
Supplement: 12276_2021_583_MOESM1_ESM.zip › 210226_BJX6JPRP_EMM2020836R_Supplelemtary_table_merged__1_.xls › Supplementary_Table_3

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Su D et al.

Nature Communications, 2019

31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM6_ESM.xlsx › Sheet1

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.

Isaacsson Velho P et al.

The Prostate, 2018

Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Kong SL et al.

Oncotarget, 2017

28978093 (PubMed )
Supplement: oncotarget-08-68026-s002.xlsx › Table_S5

Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.

Na R et al.

European Urology, 2017

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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."