Associated Papers
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
Molecular Profiling of Low-Risk Papillary Thyroid Carcinoma (mPTC) on Active Surveillance.
Ramone T et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.
McCarthy-Leo CE et al.
Plos Genetics, 2024
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
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
Alenezi WM et al.
Frontiers in Oncology, 2023
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M 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
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Kasugai Y et al.
Cancer Science, 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
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
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Li Z et al.
Clinical and Translational Medicine, 2020
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
da Costa E Silva Carvalho S et al.
Bmc Medical Genomics, 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
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
Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility.
Ciceri S et al.
Oncotarget, 2018
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
Use of panel tests in place of single gene tests in the cancer genetics clinic.
Yorczyk A et al.
Clinical Genetics, 2015
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
Roeb W et al.
Human Molecular Genetics, 2012
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
CHEK2 contribution to hereditary breast cancer in non-BRCA families.
Desrichard A et al.
Breast Cancer Research : Bcr, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.
Bell DW et al.
International Journal of Cancer, 2007
Mutation analysis of the checkpoint kinase 2 gene in colorectal cancer cell lines.
Liu WD et al.
Chinese Medical Journal, 2007
Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation.
Sodha N et al.
Cancer Research, 2006
Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype.
van Puijenbroek M et al.
The Journal of Pathology, 2005
Analysis of familial male breast cancer for germline mutations in CHEK2.
Sodha N et al.
Cancer Letters, 2004
CHEK2 variant I157T may be associated with increased breast cancer risk.
Kilpivaara O et al.
International Journal of Cancer, 2004
CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.
Sodha N et al.
British Journal of Cancer, 2002