Nicki Chun

TL;DR: Recurrent CDH1 mutations in families with hereditary diffuse gastric cancer are due to both independent mutational events and common ancestry, and the presence of a founder mutation from Newfoundland is strongly supported.

TL;DR: In this paper, the authors performed a haplotype analysis to determine whether recurring germline CDH1 mutations occurred due to independent mutational events or common ancestry in 28 families diagnosed clinically with hereditary diffuse gastric cancer.

TL;DR: In addition to families with a strong history of early-onset DGC, CDH1 mutation screening should be offered to isolated cases of DGC in individuals ages <35 years and for families with multiple cases of LBC, with any history of D GC or unspecified GI malignancies.

TL;DR: CDH1 mutations in individuals from families with HDGC are associated with gastric cancer in a highly penetrant fashion and are an indication for total gastrectomy in these patients.

TL;DR: F superficial intramucosal signet ring carcinoma, although widespread, is predominantly located in the proximal one third of the stomach in patients with E-cadherin gene mutations, suggesting a possible role for geographically targeted endoscopic surveillance biopsy in patients who elect to delay surgical intervention.