Associated Papers
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M et al.
American Journal of Human Genetics, 2024
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.s010.xlsx › All_Assays
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
EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.
Li Z et al.
Bmc Pulmonary Medicine, 2022
36123678 (PubMed )
Supplement: 12890_2022_2161_MOESM2_ESM.xlsx › OAK_POPLAR_btmb_variants
Mutation profiles in circulating cell-free DNA predict acquired resistance to olaparib in high-grade serous ovarian carcinoma.
Hu D et al.
Cancer Science, 2022
35661486 (PubMed )
Supplement: CAS-113-2849-s005.xlsx › Sheet1
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
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
Boonen RACM et al.
Cancer Research, 2022
Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.
Mazzotta M et al.
Journal for Immunotherapy of Cancer, 2020
32759236 (PubMed )
Supplement: jitc-2020-000946supp001.xlsx › all_prediction_score_merged
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
32268276 (PubMed )
Supplement: mmc5.xlsx › cfDNA_SNV
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
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