Hereditary gastric cancer.
Gastric cancer is a heterogeneous and highly prevalent disease, being the fourth most common cancer and the second leading cause of cancer associated death worldwide. Most cases are sporadic and familial clustering is observed in about 10% of the cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and a single hereditary syndrome - Hereditary Diffuse Gastric Cancer (HDGC) - has been characterised. Among families that fulfil the clinical criteria for HDGC, about 40% carry CDH1 germline mutations, the genetic cause of the others being unknown. The management options for CDH1 asymptomatic germline carriers are intensive endoscopic surveillance and prophylactic gastrectomy. In this chapter we review the pathophysiology and clinicopathological features of HDGC and discuss issues related with genetic testing and management of family members.
Oliveira
Carla
C
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal. carlaol@ipatimup.pt
Seruca
Raquel
R
Carneiro
Fátima
F
D015703:Antigens, CD; D015820:Cadherins / Q000235:genetics; D055088:Early Detection of Cancer; D005743:Gastrectomy; D005773:Gastroscopy; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D010375:Pedigree; D010641:Phenotype; D015995:Prevalence; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control
D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins