Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E2304fs
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ATM

NM_000051.4:p.E2304fs

Associated Papers

Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.

Reiner AS et al.

Jama Network Open, 2024

39786405 (PubMed )
Supplement: jamanetwopen-e2452158-s001.pdf

Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.

Petiti J et al.

International Journal of Molecular Sciences, 2024

38612443 (PubMed )
Supplement: ijms-25-03631-s001.zip › Supplementary.Tables.xlsx › Supplementary_Table.S2

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

Somatic loss of ATM is a late event in pancreatic tumorigenesis.

Paranal RM et al.

The Journal of Pathology, 2023

Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer.

Grochot R et al.

European Urology Open Science, 2023

Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.

Liao H et al.

American Journal of Cancer Research, 2021

The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer.

Fan Y et al.

Cancer Biology & Medicine, 2020

33299649 (PubMed )
Supplement: cbm-17-1002-s001.pdf

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.

Mandola AB et al.

Frontiers in Immunology, 2019

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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."