Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R3W
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CHEK2

NM_007194.4:p.R3W

Associated Papers

Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.

Terai M et al.

Journal of Clinical Medicine, 2025

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

McCarthy-Leo CE et al.

Plos Genetics, 2024

39146382 (PubMed )
Supplement: pgen.1011375.s008.xlsx › All_SNVs_Data

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

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

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

36315097 (PubMed )
Supplement: djac196_supplementary_data.zip › djac196_Supplementary_Data › JNCI-22-0201R4_Campbell_Supplementary_Tables_1-5_101822.xlsx › Supp_Table2_CHEK2_MS

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Adam F et al.

Bmc Medical Genomics, 2023

36647026 (PubMed )
Supplement: 12920_2023_1437_MOESM2_ESM.xlsx › all_cases

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Borja NA et al.

Frontiers in Oncology, 2023

36865800 (PubMed )
Supplement: DataSheet_1.pdf

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

Case report: Unique FLT4 variants associated with differential response to anlotinib in angiosarcoma.

Gu Y et al.

Frontiers in Oncology, 2022

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_6

Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer.

Srivastava A et al.

Frontiers in Endocrinology, 2021

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.

Kleiblova P et al.

International Journal of Cancer, 2019

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

Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.

Rummel SK et al.

Breast Cancer Research and Treatment, 2017

Germline mutations predisposing to diffuse large B-cell lymphoma.

Leeksma OC et al.

Blood Cancer Journal, 2017

Current perspectives on CHEK2 mutations in breast cancer.

Apostolou P et al.

Breast Cancer (dove Medical Press), 2017

DNA repair genes are selectively mutated in diffuse large B cell lymphomas.

de Miranda NF et al.

The Journal of Experimental Medicine, 2013

Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

Roeb W et al.

Human Molecular Genetics, 2012

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

Ruijs MW et al.

Hereditary Cancer in Clinical Practice, 2009

Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer.

Tischkowitz MD et al.

Cancer Letters, 2008

Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.

Bell DW et al.

International Journal of Cancer, 2007

Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer.

Laitman Y et al.

The Israel Medical Association Journal : Imaj, 2007

Absence of CHEK2 mutations in Spanish families with hereditary breast cancer.

Bellosillo B et al.

Cancer Genetics and Cytogenetics, 2005

Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome.

Sodha N et al.

Human Mutation, 2002

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

Lee SB et al.

Cancer Research, 2001

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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."