Hereditary diffuse gastric cancer: a family diagnosis and treatment.
Hereditary diffuse gastric cancer (HDGC) is a rare cancer representing approximately 2% of all gastric cancers. It is caused by CDHI gene mutations, inherited in an autosomal dominant fashion, that affect the function of E-cadherin. Approximately 38% of HDGC families have a CDHI gene mutation. With an estimated 75% penetrance rate, carriers are at high risk for HDGC. We describe the case of a Caucasian male of German-Russian ancestry, carrying a CDHI gene mutation, who survived for 18 months after being diagnosed with HDGC. The results of genetic testing undergone by his family members are also reported, along with a review of the current literature. Since surveillance methods for HDGC are ineffective and unreliable, total prophylactic gastrectomy is advised for individuals with the gene mutation. Additionally, a diagnosis of HDGC should lead to genetic evaluation of family members followed by preventative measures.
Marshfield Clinic Weston Center, Weston, WI 54476, USA. onitilo.adedayo@marshfieldclinic.org
Adedayo A
AA
Onitilo
Govinda
G
Aryal
Jessica M
JM
Engel
D000230:Adenocarcinoma / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D015703:Antigens, CD; D015820:Cadherins / Q000235:genetics / Q000502:physiology; D005743:Gastrectomy; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D013274:Stomach Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery
D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins