The CHEK 2 GENE mutations and the risk of Gastric cancer

Background and aims CHEK2 gene is located on chromosome 22q12.1. and encodes the human analogue of the yeast checkpoint kinases Cds1 and Rad 53. Activation of CHEK2 in response to DNA damage prevents the cell from entering into mitosis. Three founder alleles are present in Poland. Two of these result in a truncated CHEK2 protein IVS2+1G>A in exon 3 and 1100 del C in exon 10, the other, I157T is a missense substitution of an isoleucine for a threonine in exon 3. A single founder allele of the CHEK2 has been associated with predisposition to breast and prostate cancer in North America and Europe. CHK2 alterations are associated with an increased risk of thyroid, prostate, breast, colon and kidney cancer in Polish population. Recently, a large deletion of exons 9 and 10 of CHEK2 was identified in several unrelated patients with breast cancer of Czech or Slovak origin, the del 5395 also confers an increased risk of prostate cancer in Polish men. The CHEK2 is therefore a good candidate for a multisite cancer susceptibility gene. We reasoned, that CHEK2 alterations ought to be investigate in gastric cancer cases, too.