Mutations of the CHEK2 gene in patients with cancer and their

Checkpoint Kinase 2) encodes CHK2, a Background: CHEK2 serine/threonine kinase involved in maintaining the G1/S and G2/M checkpoints and repair of double-strand DNA breaks via homologous recombination. Functions of CHK2 include the prevention of damaged cells from going through the cell cycle or proliferating and the maintenance of chromosomal stability. mutations have been reported in a variety of CHEK2 cancers including glioblastoma, ovarian, prostate, colorectal, gastric, thyroid, and lung cancer in studies performed mainly in White populations. The most studied mutation in is c.1100delC, which was associated with CHEK2 increased risk of breast cancer. The objective of this study was to compile mutations in identified in cancer genomics studies in different CHEK2 populations and especially in Latin American individuals. A revision of cancer genomics data repositories and a profound Methods: literature review of Latin American studies was performed. Mutations with predicted high impact in were reported in Results: CHEK2 studies from Australia, Japan, United States, among other countries. The TCGA cancer types with most mutations in were breast, colorectal, and CHEK2 non-small cell lung cancer. The most common mutation found was E321* in three patients with uterine cancer. In Latin American individuals nine mutations were found in melanoma, lymphoma, and head and neck cohorts from TCGA and ICGC. Latin American studies have been restricted to breast and colorectal cancer and only two mutations out of four that have been interrogated in this population were identified, namely c.1100delC and c.349A>G. This study presents a compilation of mutations in with Conclusions: CHEK2 high impact in different cancer types in White, Hispanic and other populations. We also show the necessity of screening mutations in Latin American CHEK2 in cancer types different than breast and colorectal. 1 2