Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C633Splc
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ATM

NM_000051.4:p.C633Splc

Associated Papers

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.

Chow RD et al.

Npj Precision Oncology, 2024

39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis.

Moslemi M et al.

Bmc Cancer, 2021

Contralateral Prophylactic Mastectomy in Women with Unilateral Breast Cancer Who Are Genetic Carriers, Have a Strong Family History or Are just Young at Presentation.

Teoh V et al.

Cancers, 2020

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

ATM, radiation, and the risk of second primary breast cancer.

Bernstein JL et al.

International Journal of Radiation Biology, 2017

Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

Prodosmo A et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2016

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

Paglia LL et al.

Breast Cancer Research and Treatment, 2010

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

Concannon P et al.

Cancer Research, 2008

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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."