CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.

摘要: Mutations in the CDH1 gene are linked both to diffuse gastric cancer and invasive lobular carcinoma (ILC). A high mutation rate is found families fulfilling diagnostic criteria for hereditary cancer. Aim of this study was clarify whether or not there a significant contribution mutations breast-/ovarian (HBOC). Ninety-seven unrelated probands HBOC (96 affected, 1 unaffected) but tested negative pathogenic BRCA1/2 were screened by denaturing performance liquid chromatography (DHPLC) subsequent Sanger sequencing suspicious positive DHPLC results. In total, we two potentially alterations, c.1774G > A, pAla592Thr, c.2512 A > G, p.Ser838Gly, classified as variants unknown significance according ClinVar. addition, detected number known polymorphisms (n = 62), some them more frequent patients with (55%) than those ductal (27%). Although none studied carried clearly mutation, could be considered potential breast gene, esp. ILC worth including it NGS (next generation sequencing) panel.