scholarly journals Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer

Cancer ◽  
2011 ◽  
Vol 117 (14) ◽  
pp. 3112-3117 ◽  
Author(s):  
Ze Ming Xie ◽  
Lai Sheng Li ◽  
Claire Laquet ◽  
Frédérique Penault-Llorca ◽  
Nancy Uhrhammer ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Breast Carcinoma ◽  
Germline Mutations ◽  
Diffuse Gastric Cancer ◽  
Lobular Breast Carcinoma ◽  
E Cadherin

72: Germline mutation of the E-cadherin gene in a family with inherited invasive lobular breast carcinoma but no diffuse gastric cancer

2010 ◽  
Vol 97 (1) ◽  
pp. S62
Author(s):  
Xie Ze Ming ◽  
Sheng Li Lai ◽  
Penault-Llorca Frédérique ◽  
Nancy Uhrhammer ◽  
Yves-Jean Bignon
Keyword(s):  
Gastric Cancer ◽  
Breast Carcinoma ◽  
Germline Mutation ◽  
Diffuse Gastric Cancer ◽  
Lobular Breast Carcinoma ◽  
E Cadherin

Screening E-Cadherin Germline Mutations in Italian Patients with Familial Diffuse Gastric Cancer: An Analysis in the District of Urbino, Region Marche, Central Italy

2003 ◽  
Vol 89 (3) ◽  
pp. 255-258 ◽  
Author(s):  
Francesco Graziano ◽  
Anna Maria Ruzzo ◽  
Italo Bearzi ◽  
Enrica Testa ◽  
Vittorio Lai ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Cancer Susceptibility ◽  
Central Italy ◽  
Germline Mutations ◽  
Pedigree Analysis ◽  
Hereditary Diffuse Gastric Cancer ◽  
Diffuse Gastric Cancer ◽  
Cancer Syndrome ◽  
Standard Polymerase Chain Reaction ◽  
E Cadherin

Aims & Background Hereditary diffuse gastric cancer is a recently defined cancer syndrome caused by inactivating, heterozygous germline mutations in the E-cadherin gene (CDH1). To date, 16 truncating germline CDH1 mutations have been described in hereditary diffuse gastric cancer families in different ethnic groups, but so far, no investigation has been addressed to Italian patients. In the District of Urbino, Region Marche, Central Italy, gastric cancer is the most common tumor in men and it is the second in women after breast cancer. In this area, we investigated CDH1 mutations in patients who fulfilled the hereditary diffuse gastric cancer criteria. Material and Methods Consecutive patients with diffuse gastric cancer were considered eligible for the study. After pedigree analysis, patients who met the International Gastric Cancer Linkage Consortium criteria were studied for CDH1 mutations. After blood samples collection and DNA extraction, standard polymerase chain reaction and sequencing techniques were used for CDH1 analysis. Results In a study population of 98 patients with diffuse gastric cancer, 11 patients (11%) showed familial clustering and 3 of them met the International Gastric Cancer Linkage Consortium criteria for hereditary diffuse gastric cancer. None of the 3 patients showed inactivating germline mutation in CDH1. Conclusions According to recent studies, the frequency of CDH1 inactivating germline mutations in patients who fulfil the hereditary diffuse gastric cancer criteria may be lower than that reported in early investigations. The results of the present study in a population of Italian patients seem to confirm these data. It is likely that unidentified mutations in CDH1 or other involved genes contribute to diffuse gastric cancer susceptibility.

E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer

1999 ◽  
Vol 14 (3) ◽  
pp. 249-255 ◽  
Author(s):  
Parry J. Guilford ◽  
Justin B.W. Hopkins ◽  
William M. Grady ◽  
Sanford D. Markowitz ◽  
Joseph Willis ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Germline Mutations ◽  
Diffuse Gastric Cancer ◽  
Cancer Syndrome ◽  
Inherited Cancer ◽  
Inherited Cancer Syndrome ◽  
E Cadherin

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred

2002 ◽  
Vol 19 (5) ◽  
pp. 510-517 ◽  
Author(s):  
Carla Oliveira ◽  
Maria Cristina Bordin ◽  
Nicola Grehan ◽  
David Huntsman ◽  
Gianpaolo Suriano ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Germline Mutations ◽  
Hereditary Diffuse Gastric Cancer ◽  
Diffuse Gastric Cancer ◽  
E Cadherin

scholarly journals Clinical spectrum and pleiotropic nature of CDH1 germline mutations

2019 ◽  
Vol 56 (4) ◽  
pp. 199-208 ◽  
Author(s):  
Joana Figueiredo ◽  
Soraia Melo ◽  
Patrícia Carneiro ◽  
Ana Margarida Moreira ◽  
Maria Sofia Fernandes ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gastric Cancer ◽  
Genetic Alterations ◽  
Tumour Suppressor Gene ◽  
Diffuse Gastric Cancer ◽  
Loss Of Function ◽  
Lobular Breast Cancer ◽  
Cancer Syndrome ◽  
Risk Of Cancer ◽  
E Cadherin

CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is involved in major cellular processes such as embryogenesis and maintenance of tissue architecture, it is no surprise that deleterious effects arise from its loss of function. E-cadherin is recognised as a tumour suppressor gene, and it is well established that CDH1 genetic alterations cause diffuse gastric cancer and lobular breast cancer—the foremost manifestations of the hereditary diffuse gastric cancer syndrome. However, in the last decade, evidence has emerged demonstrating that CDH1 mutations can be associated with lobular breast cancer and/or several congenital abnormalities, without any personal or family history of diffuse gastric cancer. To date, no genotype–phenotype correlations have been observed. Remarkably, there are reports of mutations affecting the same nucleotide but inducing distinct clinical outcomes. In this review, we bring together a comprehensive analysis of CDH1-associated disorders and germline alterations found in each trait, providing important insights into the biological mechanisms underlying E-cadherin’s pleiotropic effects. Ultimately, this knowledge will impact genetic counselling and will be relevant to the assessment of risk of cancer development or congenital malformations in CDH1 mutation carriers.

1066 - Phenotypic Expression of Cdh1 Germline Mutations Unselected for Hereditary Diffuse Gastric Cancer

2018 ◽  
Vol 154 (6) ◽  
pp. S-204
Author(s):  
Nicolette J. Rodriguez ◽  
Patrick Reineke ◽  
Holly LaDuca ◽  
Rosa M. Xicola ◽  
Xavier Llor
Keyword(s):  
Gastric Cancer ◽  
Phenotypic Expression ◽  
Germline Mutations ◽  
Hereditary Diffuse Gastric Cancer ◽  
Diffuse Gastric Cancer

CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome

2021 ◽  
pp. jmedgenet-2021-108226
Author(s):  
Giovanni Corso ◽  
Francesca Magnoni ◽  
Giulia Massari ◽  
Cristina Maria Trovato ◽  
Alessandra Margherita De Scalzi ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Healthy Subjects ◽  
Relevant Literature ◽  
Germline Mutations ◽  
Hereditary Diffuse Gastric Cancer ◽  
Diffuse Gastric Cancer ◽  
Missense Mutations ◽  
Healthy Individuals ◽  
Cancer Syndrome ◽  
The Difference

The objective of this study was to determining the frequency of different sub-types of pathogenic CDH1 germline mutations in healthy and asymptomatic individuals from families with the hereditary diffuse gastric cancer (HDGC) syndrome. Relevant literature dating from 1998 to 2019 was systematically searched for data on CDH1 germline mutations. The collected variants were classified according to their subtype into the following classes: missense, non-sense, splicing, insertions and deletions. The χ2 test was used to estimate if the difference observed between patients with gastric cancer (GC) and unaffected individuals was statistically significant. CDH1 genetic screening data were retrieved for 224 patients with GC and 289 healthy individuals. Among the subjects that had tested CDH1 positive, splicing mutations were found in 30.4% of the healthy individuals and in 15.2% of the patients with GC (p=0.0076). Missense mutations were also found to occur in healthy subjects with higher frequency (22.2%) than in GC-affected individuals (18.3%), but the difference was not significant in this case. In families meeting the clinical criteria for the HDGC syndrome, CDH1 splicing and missense germline mutations have been reported to occur with higher frequency in healthy subjects than in patients with cancer. This preliminary observation suggests that not all pathogenic CDH1 germline mutations confer the same risk of developing GC.

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