Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P3050L
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ATM

NM_000051.4:p.P3050L

Associated Papers

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.

Pérez-Pérez M et al.

Clinical & Experimental Ophthalmology, 2023

Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.

Zakaria NH et al.

Human Genomics, 2023

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

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_5.xlsx › Sheet1

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Tausch E et al.

Haematologica, 2020

33054084 (PubMed )
Supplement: 2019.229161.TAUSCH_SUPPL.pdf

Targeted-Gene Sequencing to Catch Triple Negative Breast Cancer Heterogeneity before and after Neoadjuvant Chemotherapy.

Di Cosimo S et al.

Cancers, 2019

31717320 (PubMed )
Supplement: cancers-11-01753-s001.zip › TableS2.xlsx › Supplementary_Table_Mutazioni

Prognostic impact of ATM mutations in patients with metastatic colorectal cancer.

Randon G et al.

Scientific Reports, 2019

Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Kovaleva V et al.

Molecular Cancer, 2016

27756406 (PubMed )
Supplement: 12943_2016_549_MOESM2_ESM.xlsx › Kovaleva_SuppTableS4_BMC_MolCan
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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."