Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R23delFs
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ATM

NM_000051.4:p.R23delFs

Associated Papers

RANKL and CSF-1 are elevated in periovulatory follicular fluid of BRCA1 mutation carriers and increase proinflammatory signaling in fallopian tube epithelial cells.

Kollara A et al.

Neoplasia (new York, N.y.), 2025

Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population.

Ribeiro AAF et al.

Scientific Reports, 2025

Magnetic Resonance Imaging-based Prostate Cancer Screening in Carriers of Pathogenic Germline Mutations: Interim Results from the Initial Screening Round of the Prostate Cancer Genetic Risk Evaluation and Screening Study.

Amini AE et al.

European Urology Oncology, 2024

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

McDevitt T et al.

European Journal of Human Genetics : Ejhg, 2024

38443545 (PubMed )
Supplement: 41431_2023_1507_MOESM1_ESM.docx

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 › BRCA1

Chasing the origin of 23 recurrent BRCA1 mutations in Pakistani breast and ovarian cancer patients.

Rashid MU et al.

International Journal of Cancer, 2022

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.

Akbar F et al.

Hereditary Cancer in Clinical Practice, 2022

Hereditary breast and ovarian cancer susceptibility genes (review).

Kobayashi H et al.

Oncology Reports, 2013

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