CaldasC, CarneiroF, LynchHT. Familial gastric cancer: overview and guidelines for management. J Med Genet.1999; 36: 873–880.
3.
FitzgeraldRC, HardwickR, HuntsmanD, CarneiroF, GuilfordP, BlairV. (on behalf of the International Gastric Cancer Linkage Consortium). Hereditary diffuse gastric cancer: Updated consensus guidelines for clinical management and directions for future research. J Med Genet (in press, 2010).
4.
GuilfordPJ, HopkinsJB, GradyWM. E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat.1999; 14: 249–255.
5.
RichardsFM, McKeeSA, RajparMH. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet.1999; 8: 607–610.
6.
HuntsmanDG, CarneiroF, LewisFR. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med.2001; 344: 1904–1909.
7.
CaldasC, CarneiroF, LynchHT. Familial gastric cancer: overview and guidelines for management. J Med Genet.1999; 36: 873–880.
OliveiraC, SenzJ, KaurahP. Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet.2009; 18: 1545–1555.
10.
OliveiraC, SerucaR, CarneiroF. Hereditary gastric cancer. Best Pract Res Clin Gastroenterol.2009; 23: 147–157.
11.
KaurahP, MacMillanA, BoydN. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA.2007; 297: 2360–2372.
12.
CarneiroF, OliveiraC, SurianoG, SerucaR. Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. J Clin Pathol.2008; 61: 25–30.
13.
SurianoG, OliveiraMJ, HuntsmanD. E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells. Hum Mol Genet.2003; 12: 3007–3016.
14.
GradyWM, WillisJ, GuilfordPJ. Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet.2000; 26: 16–17.
15.
OliveiraC, SousaS, PinheiroH. Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroen-terology.2009; 136: 2137–2148.
16.
BarberM, MurrellA, ItoY. Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer. J Pathol.2008; 216: 295–306.
17.
OliveiraC, de BruinJ, NabaisS. Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in a HDGC tumour. Oncogene, 2004; 23: 2236–2240.
18.
HumarB, FukuzawaR, BlairV. Destabilized adhesion in the gastric proliferative zone and c-Src kinase activation mark the development of early diffuse gastric cancer. Cancer Res.2007; 67: 2480–2489.
19.
OliveiraC, FerreiraP, NabaisS. E-cadherin (CDH1) and TP53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients. Eur J Cancer.2004; 40: 1897–1903.
20.
KellerG, VogelsangH, BeckerI. Germline mutations of the E-cadherin (CDH1) and TP53 genes rather than of RUNX3 and HPP1 contribute to genetic predisposition in German gastric cancer patients. J Med Genet.2004; 41: e89.
21.
ShawD, BlairV, FrampA. Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy?Gut.2005; 54: 461–468.
22.
ChunYS, LindorNM, SmyrkTC. Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?Cancer.2001; 92: 181–187.
23.
CharltonA, BlairV, ShawD, ParryS, GuilfordP, MartinIG. Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut2004; 53: 814–820.
24.
CarneiroF, HuntsmanDG, SmyrkTC. Model of the early development of diffuse gastric cancer in E-cadherin mutation carriers and its implications for patient screening. J Pathol.2004; 203: 681–687.
25.
BarberME, SaveV, CarneiroF. Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. J Pathol.2008; 216: 286–294.
26.
RogersWM, DoboE, NortonJA. Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications. Am J Surg Pathol.2008; 32: 799–809.
27.
NortonJA, HamCM, Van DamJ. CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg.2007; 245: 873–879.
28.
HebbardPC, MacmillanA, HuntsmanD. Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients. Ann Surg Oncol.2009; 16: 1890–1895.