title: The G/A nucleotide change at cDNA position 2494 in the E-cadherin gene (CDH1): analysis in Italian patients.
abstract: Current studies are investigating new E-cadherin gene (CDH1) mutations that may be responsible for diffuse gastric cancer susceptibility. Recently, a novel CDH1 germline variant presenting a G/A nucleotide change at cDNA position 2494 has been found in Japanese patients with familial diffuse gastric cancer. The consequent amino acid variation (Val/Met) may alter the binding activity to beta-catenin and the adhesive function of the E-cadherin protein. We have investigated its frequency in Italian cases of sporadic diffuse gastric cancer a well as in healthy controls. Peripheral blood samples were collected from consecutive patients with sporadic, diffuse gastric cancer and from healthy controls in the District of Urbino, Marche Region, Central Italy. After DNA extraction, standard techniques for molecular analyses were used to investigate the 2494 G/A germline nucleotide change in CDH1 cDNA. None of the 48 patients and 48 controls showed the G/A 2494 nucleotide change. Assuming a binomial distribution of the mutation among individuals and the absence of mutations in the 48 patients, the 95% upper bound for the underlying mutation frequency was 7.4%. The novel CDH1 nucleotide change is uncommon in Italian patients with sporadic diffuse gastric cancer. Given these results, further analyses in large population-based studies are not advisable.
authors: G. Fornaini Institute of Biological Chemistry, University of Urbino, Urbino, Italy.
authors: Annamaria
authors: A
authors: Ruzzo
authors: Francesco
authors: F
authors: Graziano
authors: Antonello
authors: A
authors: Costagliola
authors: Federica
authors: F
authors: Arduini
authors: Enrica
authors: E
authors: Testa
authors: Italo
authors: I
authors: Bearzi
authors: Giuliana
authors: G
authors: Cortese
authors: Andrea
authors: A
authors: De Gaetano
authors: Francesca
authors: F
authors: Andreoni
authors: Vittorio
authors: V
authors: Lai
authors: Mauro
authors: M
authors: Magnani
mesh_terms: D000328:Adult; D000368:Aged; D015820:Cadherins / Q000235:genetics*; D004247:DNA / Q000378:metabolism; D018076:DNA, Complementary / Q000235:genetics* / Q000378:metabolism; D015536:Down-Regulation; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D013274:Stomach Neoplasms / Q000235:genetics*
chemical_list: D015820:Cadherins; D018076:DNA, Complementary; D004247:DNA