Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R1249Splc
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ATM

NM_000051.4:p.R1249Splc

Associated Papers

Skin cancer risk in hereditary mixed cancer syndromes.

Nikkola V et al.

Hereditary Cancer in Clinical Practice, 2025

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Feliubadaló L et al.

Clinical Chemistry, 2021

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

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

Tavera-Tapia A et al.

Breast Cancer Research and Treatment, 2017

ATM Variant as a Cause of Hereditary Cutaneous Melanoma in a Spanish Family: Case Report.

Lendinez-Sanchez G et al.

Case Reports in Oncology, 0

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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."