Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V3056L
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ATM

NM_000051.4:p.V3056L

Associated Papers

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

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

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4

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_MOESM2_ESM.xlsx › Table_S14

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_MOESM3_ESM.xlsx › Planilha1

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_2.xlsx › Sheet1

Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

Karlsson Q et al.

European Urology Oncology, 2021

33436325 (PubMed )
Supplement: mmc2.xlsx › Table_S4

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Rare germline variants in ATM are associated with chronic lymphocytic leukemia.

Tiao G et al.

Leukemia, 2017

28652578 (PubMed )
Supplement: NIHMS881987-supplement-1.docx
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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."