Supplementary Material for: Mutations of the CHEK2 gene in patients with cancer and their presence in the Latin American population

Published: 23 May 2024| Version 1 | DOI: 10.17632/4hmvnj323g.1


The complete list of mutations in CHEK2 reported in the cBioPortal before applying filters (Dataset 1). The complete list of mutations in CHEK2 reported in ICGC, before applying filters (Dataset 2). 132 mutations for the CHEK2 gene were reported in ExAC browser in Latino population before filters (Dataset 3). Variants reported in CHEK2 that have been associated with cancer according to data in the GWAS catalog (Dataset 4). Number of individuals per cancer study and ethnicity in the TCGA cohort. Only studies in which at least one mutation in CHEK2 was found were included (Dataset 5)


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Mutations in CHEK2 were identified in The Exome Aggregation Consortium (ExaC, RRID:SCR_004068, browser, the Cancer Genome Atlas (TCGA, RRID:SCR_003193) data sets extracted from the cBioPortal for Cancer Genomics (RRID:SCR_014555,, and The International Cancer Genome Consortium (ICGC) ( From the GWAS catalog (RRID:SCR_012745, a list of SNPs mapped to CHEK2 and associated with a disease was also downloaded. Data obtained from cell line studies was not included.


Universidad Cooperativa De Colombia - Pasto


Bioinformatics, Gene Mutation, DNA Mutation, Cancer Biomarker


Universidad Cooperativa de ​Colo​mb​ia