Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.F61V
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ATM

NM_000051.4:p.F61V

Associated Papers

Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.

Kulikowska B et al.

Cancers, 2026

Hereditary ovarian cancer.

Jurgiel WA et al.

Discover Oncology, 2026

Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay.

Alzogaray V

Clinical Genetics, 2026

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

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

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.

Wokołorczyk D et al.

International Journal of Cancer, 2020

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.

Nones K et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2019

31090900 (PubMed )
Supplement: EMS83580-supplement-Supplementary_Data.zip › Suppl_Table1_Clinical_78_Final.xlsx › Sheet1

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Koczkowska M et al.

Cancers, 2018

BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso.

Zoure AA et al.

Journal of Public Health in Africa, 2018

Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/cisplatin chemotherapy.

Tecza K et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2015

BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Laraqui A et al.

Disease Markers, 2015

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 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."