Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.A453P
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CHEK2

NM_007194.4:p.A453P

Associated Papers

Multiple Primary Cancers as an Independent Criterion for Germline Testing: Comparison with Guideline-Based Criteria.

Shin K et al.

Journal of Clinical Medicine, 2025

41156180 (PubMed )
Supplement: jcm-14-07310-s001.zip › jcm-3796461-supplementary.pdf

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM5_ESM.xls › CHEK2_Supplemental_Table_4_v25

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Ozdemir O et al.

Cancers, 2024

39594831 (PubMed )
Supplement: cancers-16-03876-s001.zip › TableS2.xlsx › CHEK2_SuppTable2__1_

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Stolarova L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Choi YY et al.

Scientific Reports, 2021

34285288 (PubMed )
Supplement: 41598_2021_94292_MOESM1_ESM.xlsx › Table_S2.

High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Lee SE et al.

Scientific Reports, 2019

31358837 (PubMed )
Supplement: 41598_2019_47439_MOESM2_ESM.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."