Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2764_G2765delFs
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ATM

NM_000051.4:p.S2764_G2765delFs

Associated Papers

Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

Faria JP et al.

Breast Cancer Research and Treatment, 2024

Comprehensive molecular profiling of sarcomas in adolescent and young adult patients: Results of the EORTC SPECTA-AYA international proof-of-concept study.

Morfouace M et al.

European Journal of Cancer (oxford, England : 1990), 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

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM2_ESM.xlsx › Sheet1

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

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
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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."