Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.K135fs
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CHEK2

NM_007194.4:p.K135fs

Associated Papers

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.

Stacey SN et al.

Nature Genetics, 2023

37932435 (PubMed )
Supplement: 41588_2023_1555_MOESM1_ESM.pdf

Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.

Boonen RACM et al.

Cancer Research, 2022

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

Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry.

Nguyen-Dumont T et al.

Cancers, 2021

Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.

Greville-Heygate SL et al.

Jco Precision Oncology, 2020

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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."