Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.I2076delFs
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ATM

NM_000051.4:p.I2076delFs

Associated Papers

Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.

Sinan H et al.

Jco Precision Oncology, 2025

Surveillance Outcome and Genetic Findings in Individuals at High Risk of Pancreatic Cancer.

Rosner G et al.

Clinical and Translational Gastroenterology, 2024

Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.

Mohsin N et al.

Jama Dermatology, 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_

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

Paranal RM et al.

The Journal of Pathology, 2023

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

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Borja NA et al.

Frontiers in Oncology, 2023

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

DeRoin L et al.

Human Mutation, 2022

35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Dalmasso B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

Brandão A et al.

International Journal of Molecular Sciences, 2020

32708810 (PubMed )
Supplement: ijms-21-05036-s001.pdf

Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide.

Antonarakis ES et al.

European Urology, 2018

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.

Tan AY et al.

Journal of the American Society of Nephrology : Jasn, 2018

Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

Frey MK et al.

Gynecologic Oncology, 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

Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.

Frey MK et al.

Gynecologic 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."