Publicación:

Mutations of the CHEK2 gene in patients with cancer and their presence in the Latin American population

Resumen

CHEK2 (Checkpoint Kinase 2) encodes CHK2, a 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. CHEK2 mutations have been reported in a variety of cancers including glioblastoma, ovarian, prostate, colorectal, gastric, thyroid, and lung cancer in studies performed mainly in White populations. The most studied mutation in CHEK2 is c.1100delC, which was associated with increased risk of breast cancer. The objective of this study was to compile mutations in CHEK2 identified in cancer genomics studies in different populations and especially in Latin American individuals