Hereditary diffuse gastric cancer and E-cadherin: Description of the first germline mutation in an Italian family

F. Roviello, G. Corso, C. Pedrazzani, D. Marrelli, G. De Falco, A. Berardi, L. Garosi, G. Suriano, C. Vindigni, A. De Stefano, L. Leoncini, R. Seruca, E. Pinto

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)448-451
Number of pages4
JournalEuropean Journal of Surgical Oncology
Volume33
Issue number4
DOIs
Publication statusPublished - May 2007

Fingerprint

Germ-Line Mutation
Cadherins
Stomach Neoplasms
Missense Mutation
Exons
Pedigree
Paraffin
Introns
Formaldehyde
Genes
Staining and Labeling
Neoplasms

Keywords

  • CDH1
  • Diffuse gastric cancer
  • E-cadherin
  • Hereditary

ASJC Scopus subject areas

  • Oncology
  • Surgery

Cite this

Hereditary diffuse gastric cancer and E-cadherin : Description of the first germline mutation in an Italian family. / Roviello, F.; Corso, G.; Pedrazzani, C.; Marrelli, D.; De Falco, G.; Berardi, A.; Garosi, L.; Suriano, G.; Vindigni, C.; De Stefano, A.; Leoncini, L.; Seruca, R.; Pinto, E.

In: European Journal of Surgical Oncology, Vol. 33, No. 4, 05.2007, p. 448-451.

Research output: Contribution to journalArticle

Roviello, F, Corso, G, Pedrazzani, C, Marrelli, D, De Falco, G, Berardi, A, Garosi, L, Suriano, G, Vindigni, C, De Stefano, A, Leoncini, L, Seruca, R & Pinto, E 2007, 'Hereditary diffuse gastric cancer and E-cadherin: Description of the first germline mutation in an Italian family', European Journal of Surgical Oncology, vol. 33, no. 4, pp. 448-451. https://doi.org/10.1016/j.ejso.2006.10.028
Roviello, F. ; Corso, G. ; Pedrazzani, C. ; Marrelli, D. ; De Falco, G. ; Berardi, A. ; Garosi, L. ; Suriano, G. ; Vindigni, C. ; De Stefano, A. ; Leoncini, L. ; Seruca, R. ; Pinto, E. / Hereditary diffuse gastric cancer and E-cadherin : Description of the first germline mutation in an Italian family. In: European Journal of Surgical Oncology. 2007 ; Vol. 33, No. 4. pp. 448-451.
@article{01c275b66dfd4b7ba501f2d79348486b,
title = "Hereditary diffuse gastric cancer and E-cadherin: Description of the first germline mutation in an Italian family",
abstract = "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.",
keywords = "CDH1, Diffuse gastric cancer, E-cadherin, Hereditary",
author = "F. Roviello and G. Corso and C. Pedrazzani and D. Marrelli and {De Falco}, G. and A. Berardi and L. Garosi and G. Suriano and C. Vindigni and {De Stefano}, A. and L. Leoncini and R. Seruca and E. Pinto",
year = "2007",
month = "5",
doi = "10.1016/j.ejso.2006.10.028",
language = "English",
volume = "33",
pages = "448--451",
journal = "European Journal of Surgical Oncology",
issn = "0748-7983",
publisher = "W.B. Saunders Ltd",
number = "4",

}

TY - JOUR

T1 - Hereditary diffuse gastric cancer and E-cadherin

T2 - Description of the first germline mutation in an Italian family

AU - Roviello, F.

AU - Corso, G.

AU - Pedrazzani, C.

AU - Marrelli, D.

AU - De Falco, G.

AU - Berardi, A.

AU - Garosi, L.

AU - Suriano, G.

AU - Vindigni, C.

AU - De Stefano, A.

AU - Leoncini, L.

AU - Seruca, R.

AU - Pinto, E.

PY - 2007/5

Y1 - 2007/5

N2 - 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.

AB - 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.

KW - CDH1

KW - Diffuse gastric cancer

KW - E-cadherin

KW - Hereditary

UR - http://www.scopus.com/inward/record.url?scp=34247162631&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34247162631&partnerID=8YFLogxK

U2 - 10.1016/j.ejso.2006.10.028

DO - 10.1016/j.ejso.2006.10.028

M3 - Article

C2 - 17126523

AN - SCOPUS:34247162631

VL - 33

SP - 448

EP - 451

JO - European Journal of Surgical Oncology

JF - European Journal of Surgical Oncology

SN - 0748-7983

IS - 4

ER -