Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R982C
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ATM

NM_000051.4:p.R982C

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

Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.

Saunders EJ et al.

European Urology Oncology, 2024

38458890 (PubMed )
Supplement: NIHMS2085376-supplement-Supplementary_Tables.xlsx › Supp_Table_3

Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand.

Sukpan P et al.

Journal of Personalized Medicine, 2023

Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.

Zhang C et al.

Journal of Medical Genetics, 2023

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s002.xlsx › SupTable_S5_Variants_in_FFPE

Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature.

Yan J et al.

Bmc Cancer, 2023

36890498 (PubMed )
Supplement: 12885_2023_10684_MOESM2_ESM.xlsx › somatic

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_7.xlsx › Sheet1

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.

Gargallo P et al.

Cancers, 2021

34771502 (PubMed )
Supplement: cancers-13-05339-s001.zip › cancers-1401869-supplementary.xlsx › supplementary_material3

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

Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

Karlsson Q et al.

European Urology Oncology, 2021

33436325 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.

Chen X et al.

Frontiers in Genetics, 2021

34079577 (PubMed )
Supplement: Table_1.XLSX › Supplementary_table_1

Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM).

González-Rincón J et al.

Plos One, 2021

34506616 (PubMed )
Supplement: pone.0257353.s001.xlsx › Table_S3._SNVs

Ancestry-specific predisposing germline variants in cancer.

Oak N et al.

Genome Medicine, 2020

32471518 (PubMed )
Supplement: 13073_2020_744_MOESM2_ESM.xlsx › S5b.SomaticRNAseq

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

Immunogenicity and Immune Silence in Human Cancer.

Yarmarkovich M et al.

Frontiers in Immunology, 2020

32256484 (PubMed )
Supplement: Table_4.XLSX › TCGA_HLAs_and_mutations

Somatic mutation profiling and HER2 status in KRAS-positive Chinese colorectal cancer patients.

Dong Z et al.

Scientific Reports, 2019

31729406 (PubMed )
Supplement: 41598_2019_53039_MOESM1_ESM.pdf

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL et al.

Cell, 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

Next-Generation Sequencing of Tubal Intraepithelial Carcinomas.

McDaniel AS et al.

Jama Oncology, 2015

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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."