Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.I448S
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CHEK2

NM_007194.4:p.I448S

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

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

Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men.

Gong T et al.

Nature Communications, 2025

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_

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

McCarthy-Leo CE et al.

Plos Genetics, 2024

Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men.

Hayes V et al.

Research Square, 2024

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Prostate cancer genetic risk and associated aggressive disease in men of African ancestry.

Soh PXY et al.

Nature Communications, 2023

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

Comments on "The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients".

Kratz CP et al.

International Journal of Cancer, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer.

Bugoye FC et al.

Frontiers in Genetics, 2023

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

p16INK4A-deficiency predicts response to combined HER2 and CDK4/6 inhibition in HER2+ breast cancer brain metastases.

Ni J et al.

Nature Communications, 2022

35304445 (PubMed )
Supplement: 41467_2022_29081_MOESM3_ESM.xlsx › FigS1

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

Boonen RACM et al.

Cancer Research, 2022

Recent Insights on Genetic Testing in Primary Prostate Cancer.

Kafka M et al.

Molecular Diagnosis & Therapy, 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate.

Stolarova L et al.

Cells, 2020

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Delimitsou A et al.

Human Mutation, 2019

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

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

A Review of Prostate Cancer Genome-Wide Association Studies (GWAS).

Benafif S et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2018

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.

Conti DV et al.

Journal of the National Cancer Institute, 2017

Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.

Spurdle AB et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

Southey MC et al.

Journal of Medical Genetics, 2016

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

Le Calvez-Kelm F et al.

Breast Cancer Research : Bcr, 2011

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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."