Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V1268fs
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ATM

NM_000051.4:p.V1268fs

Associated Papers

Response to DNA-damaging agents and PARP inhibitors in ATM mutated metastatic colorectal cancer: case series.

Eslinger C et al.

Chinese Clinical Oncology, 2025

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_S3

A Novel EGFR Germline Mutation in Lung Adenocarcinoma: Case Report and Literature Review.

Sharma P et al.

Clinical Lung Cancer, 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_5

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_

A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.

Astiazaran-Symonds E et al.

Cancers, 2022

35805029 (PubMed )
Supplement: cancers-14-03257-s001.zip › cancers-1784616-supplementary.pdf

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM2_ESM.xlsx › Sheet1

Homologous Recombination Repair Gene Mutation Characterization by Liquid Biopsy: A Phase II Trial of Olaparib and Abiraterone in Metastatic Castrate-Resistant Prostate Cancer.

Carr TH et al.

Cancers, 2021

34830984 (PubMed )
Supplement: cancers-13-05830-s001.zip › cancers-1449920-supplementary.pdf

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

First-in-Human Trial of the Oral Ataxia Telangiectasia and RAD3-Related (ATR) Inhibitor BAY 1895344 in Patients with Advanced Solid Tumors.

Yap TA et al.

Cancer Discovery, 2021

Germline and somatic DNA repair gene alterations in prostate cancer.

Dall'Era MA et al.

Cancer, 2020

Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.

Klek S et al.

Jnci Cancer Spectrum, 2020

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

RSPO2 gene rearrangement: a powerful driver of β-catenin activation in liver tumours.

Longerich T et al.

Gut, 2019

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Bolli N et al.

Leukemia, 2018

29789651 (PubMed )
Supplement: 41375_2018_37_MOESM14_ESM.xlsx › supp_Table1

Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.

Mijuskovic M et al.

British Journal of Cancer, 2018

Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Decker B et al.

Journal of Medical Genetics, 2017

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2

Integrative clinical genomics of advanced prostate cancer.

Robinson D et al.

Cell, 2015

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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."