Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer.
Gastric cancer is one of the major causes of cancer-related death worldwide. Familial clustering is observed in about 10% of cases; 1-3% of cases are hereditary. In the latter group, a syndrome which has been well characterised is hereditary diffuse gastric cancer; this is specifically associated with CDH1 (E-cadherin) germline mutations in about 30% of families. In this article, the state of the art of familial gastric cancer regarding the clinical, molecular and pathology features is reviewed, as well as the practical aspects for a correct diagnosis and clinical management.
Carneiro
F
F
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal. fcarneiro@ipatimup.pt
Oliveira
C
C
Suriano
G
G
Seruca
R
R
D015703:Antigens, CD; D015820:Cadherins / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D008403:Mass Screening / Q000379:methods; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology
D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins; D009363:Neoplasm Proteins