Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
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
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
39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST22
Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways.
Pires C et al.
International Journal of Cancer, 2025
CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function.
Pires C et al.
The Journal of Biological Chemistry, 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
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
36905130 (PubMed )
Supplement: MGG3-11-e2141-s004.xlsx › CI_Variants-Manual_Curation_
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
The repertoire of germline variants in patients with early-onset rectal cancer.
Beltrami CM et al.
Cancer Communications (london, England), 2022
35029067 (PubMed )
Supplement: CAC2-42-481-s003.xlsx › Supp._Table_S3
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1
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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