Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R1917T
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ATM

NM_000051.4:p.R1917T

Associated Papers

Skin cancer risk in hereditary mixed cancer syndromes.

Nikkola V et al.

Hereditary Cancer in Clinical Practice, 2025

Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.

Viart NM et al.

Breast Cancer Research : Bcr, 2025

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

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Dalmasso B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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

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

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.

Pastorino L et al.

Cancers, 2020

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Renault AL et al.

Breast Cancer Research : Bcr, 2018

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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