Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.T2059I
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ATM

NM_000051.4:p.T2059I

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

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

Evaluating Germline Testing Panels in Southern African Males With Advanced Prostate Cancer.

Gheybi K et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2023

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.

Lampson BL et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023

Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.

Pereira JZ et al.

Molecular Biology Reports, 2022

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.

Loke J et al.

Hgg Advances, 2022

35146455 (PubMed )
Supplement: mmc1.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_MOESM3_ESM.xlsx › Planilha1

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Eygelaar D et al.

Scientific Reports, 2022

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

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

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.

Rosenthal SH et al.

Plos One, 2021

33909614 (PubMed )
Supplement: pone.0243683.s002.xlsx › S2

Screening for ATM sequence alterations in African-American women diagnosed with breast cancer.

Hirsch AE et al.

Breast Cancer Research and Treatment, 2008

Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy.

Ho AY et al.

International Journal of Radiation Oncology, Biology, Physics, 2007

Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.

Edvardsen H et al.

Radiation Oncology (london, England), 2007

17623063 (PubMed )
Supplement: 1748-717X-2-25-S1.xls › Sheet1
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