No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay

摘要

Dominantly inherited diffuse gastric cancer (HDGC) syndrome caused by germline mutations in the CDH1 gene predisposes patients to the development of diffuse gastric cancer (DGC) and lobular breast cancer (LBG; Guilford et al., 1999; Pharoah et al., 2001). Although mutations in CDH1 play a major role in the development of these types of cancers, about 50% of sporadic DGG and LBC cases are caused by other somatic inactivation mechanisms of the CDH1 gene, or associated proteins (Becker et al., 1994; Berx et al., 1996). Although most somatic mutations in sporadic DGC cause exon 8 and 9 skipping, germ-line mutations span the whole length of the gene and show no major mutational hotspot (Berx et al., 1998; Corso et al., 2012).