A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach

Research output: Contribution to journalArticle

Abstract

Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. We identified a new truncating germline mutation (p.Asp538Thrfs*19) in exon 11 of the CDH1 gene in a 41-year-old male with a diffuse gastric cancer. Although he had no parental history of gastric cancer, the co-segregation study in the family detected the same mutation in his healthy 31-year-old brother. The mutation affects one of the extracellular repeat (CAD repeats) domains which is essential for the homophilic binding specificity that directs "E-cadherin" to bind with itself each others. In this case, immunohistochemical analysis showed no expression of E-cadherin in the tumor sample and was a useful prescreening tool to genetic testing. This finding was associated with a poor response to trastuzumab-based treatment.

Original languageEnglish
Pages (from-to)254-259
Number of pages6
JournalCancer Biology and Therapy
Volume19
Issue number4
DOIs
Publication statusPublished - Apr 3 2018

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Signet Ring Cell Carcinoma
Cadherins
Stomach Neoplasms
Stomach
Germ-Line Mutation
Mutation
Genes
Genetic Testing
Siblings
Exons
Neoplasms
Proteins
Therapeutics

Cite this

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title = "A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach",
abstract = "Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. We identified a new truncating germline mutation (p.Asp538Thrfs*19) in exon 11 of the CDH1 gene in a 41-year-old male with a diffuse gastric cancer. Although he had no parental history of gastric cancer, the co-segregation study in the family detected the same mutation in his healthy 31-year-old brother. The mutation affects one of the extracellular repeat (CAD repeats) domains which is essential for the homophilic binding specificity that directs {"}E-cadherin{"} to bind with itself each others. In this case, immunohistochemical analysis showed no expression of E-cadherin in the tumor sample and was a useful prescreening tool to genetic testing. This finding was associated with a poor response to trastuzumab-based treatment.",
author = "Laura Caggiari and Gianmaria Miolo and Vincenzo Canzonieri and {De Zorzi}, Mariangela and Lara Alessandrini and Giuseppe Corona and Renato Cannizzaro and Santeufemia, {Davide Adriano} and Antonio Cossu and Angela Buonadonna and {De Re}, Valli",
year = "2018",
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language = "English",
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TY - JOUR

T1 - A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach

AU - Caggiari, Laura

AU - Miolo, Gianmaria

AU - Canzonieri, Vincenzo

AU - De Zorzi, Mariangela

AU - Alessandrini, Lara

AU - Corona, Giuseppe

AU - Cannizzaro, Renato

AU - Santeufemia, Davide Adriano

AU - Cossu, Antonio

AU - Buonadonna, Angela

AU - De Re, Valli

PY - 2018/4/3

Y1 - 2018/4/3

N2 - Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. We identified a new truncating germline mutation (p.Asp538Thrfs*19) in exon 11 of the CDH1 gene in a 41-year-old male with a diffuse gastric cancer. Although he had no parental history of gastric cancer, the co-segregation study in the family detected the same mutation in his healthy 31-year-old brother. The mutation affects one of the extracellular repeat (CAD repeats) domains which is essential for the homophilic binding specificity that directs "E-cadherin" to bind with itself each others. In this case, immunohistochemical analysis showed no expression of E-cadherin in the tumor sample and was a useful prescreening tool to genetic testing. This finding was associated with a poor response to trastuzumab-based treatment.

AB - Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. We identified a new truncating germline mutation (p.Asp538Thrfs*19) in exon 11 of the CDH1 gene in a 41-year-old male with a diffuse gastric cancer. Although he had no parental history of gastric cancer, the co-segregation study in the family detected the same mutation in his healthy 31-year-old brother. The mutation affects one of the extracellular repeat (CAD repeats) domains which is essential for the homophilic binding specificity that directs "E-cadherin" to bind with itself each others. In this case, immunohistochemical analysis showed no expression of E-cadherin in the tumor sample and was a useful prescreening tool to genetic testing. This finding was associated with a poor response to trastuzumab-based treatment.

U2 - 10.1080/15384047.2017.1394540

DO - 10.1080/15384047.2017.1394540

M3 - Article

C2 - 29131691

VL - 19

SP - 254

EP - 259

JO - Cancer Biology and Therapy

JF - Cancer Biology and Therapy

SN - 1538-4047

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