Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S644*
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ATM

NM_000051.4:p.S644*

Associated Papers

Germline variants in CDKN2A wild-type melanoma prone families.

Iversen GT et al.

Molecular Oncology, 2025

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

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_

Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia.

Zhao B et al.

American Journal of Human Genetics, 2023

A framework for individualized splice-switching oligonucleotide therapy.

Kim J et al.

Nature, 2023

37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_5

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2

Exome Array Analysis Identifies Variants in SPOCD1 and BTN3A2 That Affect Risk for Gastric Cancer.

Zhu M et al.

Gastroenterology, 2017

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A

Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.

Roberts NJ et al.

Cancer Discovery, 2016

26658419 (PubMed )
Supplement: 21598290cd150402-sup-147586_2_supp_3229548_nxvfx2.pdf

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.

Smith AL et al.

Cancer Letters, 2016

Loss-of-function variants in ATM confer risk of gastric cancer.

Helgason H et al.

Nature Genetics, 2015

Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Grant RC et al.

Gastroenterology, 2015

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.

Grant RC et al.

Human Genomics, 2013

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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."