Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.F2958delFs
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ATM

NM_000051.4:p.F2958delFs

Associated Papers

Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases.

Pertesi M et al.

Leukemia, 2026

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

Complete pathological response following chemotherapy and radiotherapy in two cases of advanced anaplastic thyroid carcinoma.

Chevalier B et al.

European Thyroid Journal, 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

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.

Oliver J et al.

Frontiers in Oncology, 2019

Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.

Bubien V et al.

Genes, Chromosomes & Cancer, 2017

Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

Carranza D et al.

Neuromolecular Medicine, 2017

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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."