BACKGROUND. Hereditary Diffuse Gastric Cancer syndrome is an inherited genetic predisposition associated with the E-cadherin (CDH1 gene) germline mutation. Firstly described in 1998 in three Maori kindred, to date several CDH1 mutations have been identified. METHODS. Starting from 1998, we collected all E-cadherin mutations reported in literature. We performed a complete review discussing about E-cadherin function, gastric pathology, clinical criteria, prophylactic total gastrectomy, clinical management for asymptomatic mutation carriers and surveillance. RESULTS AND CONCLUSIONS. We identified important clinico-pathologic differences between Maori vs. non-Maori population CDH1 mutation carriers, in particular in age at onset and gastric tumor behaviours. Finally, our data suggested an intensive endoscopic surveillance for asymptomatic E-cadherin germline missense mutation carriers, in which prophylactic gastrectomy could be rather excessive.

Pedrazzani, C., Corso, G., Marrelli, D., & Roviello, F. (2007). E-cadherin and hereditary diffuse gastric cancer. SURGERY, 142(5), 645-657 [10.1016/j.surg.2007.06.006].

E-cadherin and hereditary diffuse gastric cancer.

PEDRAZZANI, CORRADO;CORSO, GIOVANNI;MARRELLI, DANIELE;ROVIELLO, FRANCO
2007

Abstract

BACKGROUND. Hereditary Diffuse Gastric Cancer syndrome is an inherited genetic predisposition associated with the E-cadherin (CDH1 gene) germline mutation. Firstly described in 1998 in three Maori kindred, to date several CDH1 mutations have been identified. METHODS. Starting from 1998, we collected all E-cadherin mutations reported in literature. We performed a complete review discussing about E-cadherin function, gastric pathology, clinical criteria, prophylactic total gastrectomy, clinical management for asymptomatic mutation carriers and surveillance. RESULTS AND CONCLUSIONS. We identified important clinico-pathologic differences between Maori vs. non-Maori population CDH1 mutation carriers, in particular in age at onset and gastric tumor behaviours. Finally, our data suggested an intensive endoscopic surveillance for asymptomatic E-cadherin germline missense mutation carriers, in which prophylactic gastrectomy could be rather excessive.
Pedrazzani, C., Corso, G., Marrelli, D., & Roviello, F. (2007). E-cadherin and hereditary diffuse gastric cancer. SURGERY, 142(5), 645-657 [10.1016/j.surg.2007.06.006].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/24922
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