Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C2488Y
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ATM

NM_000051.4:p.C2488Y

Associated Papers

Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?

Schubart C et al.

International Journal of Cancer, 2025

40278800 (PubMed )
Supplement: IJC-157-964-s002.xlsx › Tabelle1

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

ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.

Thorvaldsdottir B et al.

Leukemia, 2025

40275070 (PubMed )
Supplement: 41375_2025_2615_MOESM2_ESM.xlsx › Supplemental_Table_S3

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_

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

36627197 (PubMed )
Supplement: jmg-2022-108816supp001.pdf

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.

Lampson BL et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023

Rare germline ATM variants of uncertain significance in chronic lymphocytic leukaemia and other cancers.

Petrackova A et al.

British Journal of Haematology, 2022

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

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

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s102.xlsx › shared_calls_primary-mCRPC

Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.

Rantapero T et al.

Genes, 2020

32183364 (PubMed )
Supplement: genes-11-00314-s001.zip › genes-736952-supplementary.xlsx › Sheet1

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.

Navrkalova V et al.

Haematologica, 2013

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Tavtigian SV et al.

American Journal of Human Genetics, 2009

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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."