摘要：Mutations in the BRCA1and BRCA2genes confer a high risk of breast cancer (BC), although they account for only a small fraction of BC susceptibility. Rare mutations in genes conferring moderate risk may contribute to BC risk. Previous studies have shown that mutations in the CHEK2 gene, which encodes for an upstream regulator of BRCA1, may cause a moderately increased BC risk. In the current study we investigated the status of three founder mutations in the CHEK2 gene (c.1100delC, R145W and I157T) using direct sequencing in 50 BC and 50 control samples. No mutations were detected. This result is in line with the postulated existence of a c.1100delC frequency gradient from the North to the South in Europe with higher frequencies in the Northern countries.
