Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S1905fs
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ATM

NM_000051.4:p.S1905fs

Associated Papers

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

41465280 (PubMed )
Supplement: ijms-26-11851-s001.zip › Supplementary_Table_1.xlsx › Supplementary_table_S1

Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.

Reiner AS et al.

Jama Network Open, 2024

39786405 (PubMed )
Supplement: jamanetwopen-e2452158-s001.pdf

Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.

Thibaud S et al.

Blood Cancer Discovery, 2024

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

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

Petiti J et al.

International Journal of Molecular Sciences, 2024

38612443 (PubMed )
Supplement: ijms-25-03631-s001.zip › Supplementary.Tables.xlsx › Supplementary_Table.S2

PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol.

Črepinšek K et al.

Cancers, 2024

38539499 (PubMed )
Supplement: cancers-16-01164-s001.zip › cancers-2903666-supplementary.xlsx › Suppl._Table_S3

ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.

Lai J et al.

Cell Reports, 2024

38159274 (PubMed )
Supplement: NIHMS1961502-supplement-2.xlsx › ATM_mutations

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 › ATM_

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel.

Glodzik D et al.

The Journal of Molecular Diagnostics : Jmd, 2023

36944408 (PubMed )
Supplement: mmc15.xlsx › ATM_Analysis

Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients.

Breen KE et al.

The Journal of Urology, 2023

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Borja NA et al.

Frontiers in Oncology, 2023

36865800 (PubMed )
Supplement: DataSheet_1.pdf

ATM Germline-Mutated Gastroesophageal Junction Adenocarcinomas: Clinical Descriptors, Molecular Characteristics, and Potential Therapeutic Implications.

El Jabbour T et al.

Journal of the National Cancer Institute, 2022

Outcomes of Patients with Metastatic Castration-Resistant Prostate Cancer According to Somatic Damage DNA Repair Gene Alterations.

Neviere Z et al.

Current Oncology (toronto, Ont.), 2022

Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.

Renault AL et al.

Breast Cancer Research : Bcr, 2022

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.

Lotan TL et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

33462368 (PubMed )
Supplement: NIHMS1655161-supplement-1.pdf

Next-generation sequencing-guided molecular-targeted therapy and immunotherapy for biliary tract cancers.

Zhang W et al.

Cancer Immunology, Immunotherapy : Cii, 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

Genomic and Clinicopathologic Characterization of ATM-deficient Prostate Cancer.

Kaur H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

Effectiveness of Olaparib Treatment in a Patient with Gallbladder Cancer with an ATM-Inactivating Mutation.

Zhang W et al.

The Oncologist, 2020

Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma.

Parry EM et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2017

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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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."