Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2812fs
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ATM

NM_000051.4:p.S2812fs

Associated Papers

Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.

Khurana S et al.

Brain Communications, 2026

Dual inhibition of ATR and DNA-PKcs radiosensitizes ATM-mutant prostate cancer.

Hofstad M et al.

Oncogene, 2025

Exploring the Genetic and Clinical Landscape of Dedifferentiated Endometrioid Carcinoma.

Haraga H et al.

International Journal of Molecular Sciences, 2025

40362376 (PubMed )
Supplement: ijms-26-04137-s001.zip › Supplementary_Table_S1.xlsx › Case2_well-differentiated

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.

Wang C et al.

Iscience, 2024

39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled

Osteosarcoma and Langerhans Cell Histiocytosis in a Pediatric Patient with Lynch Syndrome: A Case Report.

Sabzevari S et al.

Jbjs Case Connector, 2024

ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen.

Lee ASE et al.

Clinical Immunology (orlando, Fla.), 2024

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.

Kansuttiviwat C et al.

Npj Genomic Medicine, 2024

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_

Relevance of ATM Status in Driving Sensitivity to DNA Damage Response Inhibitors in Patient-Derived Xenograft Models.

Karmokar A et al.

Cancers, 2023

Germline mutations in homologous recombination repair genes among Chinese pancreatic ductal adenocarcinoma patients detected using next-generation sequencing.

Jiang H et al.

Molecular Genetics & Genomic Medicine, 2023

Circulating Tumor DNA: Less Invasive, More Representative Method to Unveil the Genomic Landscape of Newly Diagnosed Multiple Myeloma Than Bone Marrow Aspirates.

Liu Y et al.

Cancers, 2022

36230837 (PubMed )
Supplement: cancers-14-04914-s001.zip › cancers-1924136-supplementary.xlsx › Supplemental_Table_2

Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.

Liang Y et al.

Plos Genetics, 2022

36095024 (PubMed )
Supplement: pgen.1010373.s018.xlsx › S3_Table

Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer.

Liao C et al.

The International Journal of Biological Markers, 2022

35505597 (PubMed )
Supplement: sj-xlsx-2-jbm-10.1177_03936155221095574.xlsx › germline_mutation

Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.

Lertwilaiwittaya P et al.

Breast Cancer Research and Treatment, 2021

Intestinal metaplasia of the urinary tract harbors potentially oncogenic genetic variants.

Acosta AM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.

Ji K et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2020

Molecular screening and clinicopathologic characteristics of Lynch-like syndrome in a Chinese colorectal cancer cohort.

Xu HX et al.

American Journal of Cancer Research, 2020

Using next-generation sequencing (NGS) platform to diagnose pathogenic germline BRCA1/2 mutations from archival tumor specimens.

Ong PY et al.

Gynecologic Oncology, 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."