AIMS: Germline mutation of the E-cadherin gene (CDH1) accounts for the Hereditary Diffuse Gastric Cancer (HDGC) syndrome. Fourteen pedigrees with Diffuse Gastric Cancer that fulfilled the International Gastric Cancer Linkage Consortium (IGCLC) criteria were selected and screened for CDH1 germline mutations. METHODS: The entire coding region of the CDH1 gene and all intron-exon boundaries were analyzed by direct sequencing in the 14 families fulfilling the IGCLC criteria. E-cadherin immunohistochemical expression was evaluated on tumour as well as normal formalin-fixed paraffin embedded tissues. RESULTS: A novel germline missense mutation was found. It was a single C-->T substitution in exon 8, resulting in a transition of CCG-->CTG (C1118T; Pro373Leu) demonstrated in the proband and her brother. At immunohistochemical analysis, the staining intensity was reduced and considered weakly positive (15%). CONCLUSIONS: The first CDH1 germline mutation of an Italian family is herein reported. The present missense mutation has never been described so far.
AIMS: Germline mutation of the E-cadherin gene (CDH1) accounts for the Hereditary Diffuse Gastric Cancer (HDGC) syndrome. Fourteen pedigrees with Diffuse Gastric Cancer that fulfilled the International Gastric Cancer Linkage Consortium (IGCLC) criteria were selected and screened for CDH1 germline mutations. METHODS: The entire coding region of the CDH1 gene and all intron-exon boundaries were analyzed by direct sequencing in the 14 families fulfilling the IGCLC criteria. E-cadherin immunohistochemical expression was evaluated on tumour as well as normal formalin-fixed paraffin embedded tissues. RESULTS: A novel germline missense mutation was found. It was a single C-->T substitution in exon 8, resulting in a transition of CCG-->CTG (C1118T; Pro373Leu) demonstrated in the proband and her brother. At immunohistochemical analysis, the staining intensity was reduced and considered weakly positive (15%). CONCLUSIONS: The first CDH1 germline mutation of an Italian family is herein reported. The present missense mutation has never been described so far.
Authors: Koji Shindo; Jun Yu; Masaya Suenaga; Shahriar Fesharakizadeh; Christy Cho; Anne Macgregor-Das; Abdulrehman Siddiqui; P Dane Witmer; Koji Tamura; Tae Jun Song; Jose Alejandro Navarro Almario; Aaron Brant; Michael Borges; Madeline Ford; Thomas Barkley; Jin He; Matthew J Weiss; Christopher L Wolfgang; Nicholas J Roberts; Ralph H Hruban; Alison P Klein; Michael Goggins Journal: J Clin Oncol Date: 2017-08-02 Impact factor: 44.544
Authors: Anneke Kievit; Federico Tessadori; Hannie Douben; Ingrid Jordens; Madelon Maurice; Jeannette Hoogeboom; Raoul Hennekam; Sheela Nampoothiri; Hülya Kayserili; Marco Castori; Margo Whiteford; Connie Motter; Catherine Melver; Michael Cunningham; Anne Hing; Nancy M Kokitsu-Nakata; Siulan Vendramini-Pittoli; Antonio Richieri-Costa; Annette F Baas; Corstiaan C Breugem; Karen Duran; Maarten Massink; Patrick W B Derksen; Wilfred F J van IJcken; Leontine van Unen; Fernando Santos-Simarro; Pablo Lapunzina; Vera L Gil-da Silva Lopes; Elaine Lustosa-Mendes; Max Krall; Anne Slavotinek; Victor Martinez-Glez; Jeroen Bakkers; Koen L I van Gassen; Annelies de Klein; Marie-José H van den Boogaard; Gijs van Haaften Journal: Eur J Hum Genet Date: 2018-01-18 Impact factor: 4.246