CDH1‐related hereditary diffuse gastric cancer syndrome: Clinical variations and implications for counseling

摘要: CDH1 mutation carriers have a strongly increased risk of developing gastric cancer (GC) and lobular breast (LBC). Clinical data GC cases surgical histological prophylactic gastrectomies mastectomies all 10 Dutch families were collected. In vitro functional assays performed to analyze the nature newly found missense c.1748T>G (p.Leu583Arg). Ten different mutations found. Functional gave strong arguments for pathogenic p.Leu583Arg mutation. The pedigrees comprised 36 (mean age 40 years, range 20-72 years) one LBC case. Twenty-nine/37 alive, aged 18-61 underwent gastrectomy. Invasive GC-foci premalignant abnormalities detected in 2 25 patients, respectively. four patients GC/signetring cell (SRC) foci diagnosed at preoperative gastroscopy. Long-standing presence SRCs without progression invasive carcinoma was shown two others. Multifocal LBC/LCIS mastectomy specimens. Clefts lip and/or palate (CL/P) reported seven individuals from three families. onset aggressiveness is highly variable, which has be included counseling on planning gastrectomies. incidence expected increase needs considered. relationship between CL/P further study inform future parents hereditary diffuse (HDGC) adequately.