Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.S356L
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CHEK2

NM_007194.4:p.S356L

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM3_ESM.xls › CHEK2_Supplemental_Table_2_v25

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

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

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s002.xlsx › Supp_Table_5

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

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Lim BWX et al.

Journal of the National Cancer Institute, 2023

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S17

Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients.

Aksoy F et al.

Human Heredity, 2022

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Delimitsou A et al.

Human Mutation, 2019

Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.

Badgujar NV et al.

Plos One, 2019

Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.

Kleiblová P et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Genetic mapping of pancreatic cancer by targeted next-generation sequencing in a cohort of patients managed with nab-paclitaxel-based chemotherapy or agents targeting the EGFR axis: a retrospective analysis of the Hellenic Cooperative Oncology Group (HeCOG).

Zarkavelis G et al.

Esmo Open, 2019

31673425 (PubMed )
Supplement: esmoopen-2019-000525supp001.pdf

A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma.

Sponziello M et al.

Endocrine, 2018

Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma.

Havranek O et al.

Plos One, 2015

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