Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family.
作者： F. Roviello , G. Corso , C. Pedrazzani , D. Marrelli , G. De Falco
DOI: 10.1016/J.EJSO.2006.10.028
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摘要: Abstract Aims Germline mutation of the E-cadherin gene ( CDH1 ) accounts for Hereditary Diffuse Gastric Cancer (HDGC) syndrome. Fourteen pedigrees with that fulfilled International Linkage Consortium (IGCLC) criteria were selected and screened germline mutations. Methods The entire coding region all intron–exon boundaries analyzed by direct sequencing in 14 families fulfilling IGCLC criteria. immunohistochemical expression was evaluated on tumour as well normal formalin-fixed paraffin embedded tissues. Results A novel missense found. It a single C→T substitution exon 8, resulting transition CCG→CTG (C1118T; Pro373Leu) demonstrated proband her brother. At analysis, staining intensity reduced considered weakly positive (15%). Conclusions first an Italian family is herein reported. present has never been described so far.
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Francesco Graziano, Anna Maria Ruzzo, Italo Bearzi, Enrica Testa, Vittorio Lai, Mauro Magnani, Screening E-cadherin germline mutations in Italian patients with familial diffuse gastric cancer: an analysis in the District of Urbino, Region Marche, Central Italy. Tumori. ,vol. 89, pp. 255- 258 ,(2003) , 10.1177/030089160308900304
Yao-Chi Liu, Treatment of nonalcoholic fatty liver disease World Journal of Gastroenterology. ,vol. 12, pp. 2161- 2167 ,(2006) , 10.3748/WJG.V12.I14.2161
G. Berx, A. M. Cleton-Jansen, F. Nollet, W. J. de Leeuw, M. van de Vijver, C. Cornelisse, F. van Roy, E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. The EMBO Journal. ,vol. 14, pp. 6107- 6115 ,(1995) , 10.1002/J.1460-2075.1995.TB00301.X
Parry Guilford, Justin Hopkins, James Harraway, Maybelle McLeod, Ngahiraka McLeod, Pauline Harawira, Huriana Taite, Robin Scoular, Andrew Miller, Anthony E. Reeve, E-cadherin germline mutations in familial gastric cancer Nature. ,vol. 392, pp. 402- 405 ,(1998) , 10.1038/32918
Geert Berx, Karl-Friedrich Becker, Heinz Höfler, Frans van Roy, Mutations of the human E‐cadherin (CDH1) gene Human Mutation. ,vol. 12, pp. 226- 237 ,(1998) , 10.1002/(SICI)1098-1004(1998)12:4<226::AID-HUMU2>3.0.CO;2-D
M Takeichi, Cadherin cell adhesion receptors as a morphogenetic regulator Science. ,vol. 251, pp. 1451- 1455 ,(1991) , 10.1126/SCIENCE.2006419
M TAKEICHI, Cadherins in cancer: implications for invasion and metastasis. Current Opinion in Cell Biology. ,vol. 5, pp. 806- 811 ,(1993) , 10.1016/0955-0674(93)90029-P
Fátima Carneiro, Carla Oliveira, Joyce de Bruin, Sérgio Nabais, Marjolijn Ligtenberg, Cátia Moutinho, Fokko M Nagengast, Raquel Seruca, Han van Krieken, Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour Oncogene. ,vol. 23, pp. 2236- 2240 ,(2004) , 10.1038/SJ.ONC.1207335
Gianpaolo Suriano, David Mulholland, Olivier de Wever, Paulo Ferreira, Ana Rita Mateus, Eric Bruyneel, Colleen C Nelson, Marc M Mareel, Jun Yokota, David Huntsman, Raquel Seruca, The intracellular E-cadherin germline mutation V832 M lacks the ability to mediate cell-cell adhesion and to suppress invasion. Oncogene. ,vol. 22, pp. 5716- 5719 ,(2003) , 10.1038/SJ.ONC.1206672
J.C. Rodriguez-Sanjuan, A. Fontalba, M. Mayorga, M.C. Bordin, S.J. Hyland, S. Trugeda, R.A. Garcia, M. Gomez-Fleitas, F. Fernandez, C. Caldas, J.L. Fernandez-Luna, A novel mutation in the E-cadherin gene in the first family with hereditary diffuse gastric cancer reported in Spain. Ejso. ,vol. 32, pp. 1110- 1113 ,(2006) , 10.1016/J.EJSO.2006.06.006