1.
Am J Med Genet A
; 182(7): 1780-1784, 2020 07.
Artículo
en Inglés
| MEDLINE
| ID: mdl-32302040
RESUMEN
We report the first case of diffuse gastric cancer in an individual with familial blepharocheilodontic syndrome (BCD) due to a germline CDH1 likely pathogenic variant. To date, other BCD affected relatives are nonpenetrant for diffuse gastric cancer posing challenges to counseling regarding gastric and breast cancer surveillance, and preventative total gastrectomy.