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Presymptomatic identification of CDH1 germline mutation in a healthy korean individual with family history of gastric cancer.

Choi HJ, Ki CS, Suh SP, Kim JW - Ann Lab Med (2014)

Bottom Line: Screening for the GC-causing CDH1 mutation may provide valuable information for genetic counseling, testing, and risk-reduction management for the as-yet unaffected family members.Eventually, c.1018A>G in CDH1, a known disease-causing mutation, was found.To our knowledge, this is the first Korean case of presymptomatic detection of CDH1 mutation, and it highlights the importance of genetic screening for individuals with a family history of GC, especially in high-risk geographical areas.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hospital, Gwanju, Korea.

ABSTRACT
Gastric cancer (GC) is one of the most common cancers with high morbidity and mortality. Familial GC is seen in 10% of cases, and approximately 3% of familial GC cases arise owing to hereditary diffuse gastric cancer (HDGC). CDH1, which encodes the protein E-cadherin, is the only gene whose mutations are associated with HDGC. Screening for the familial GC-predisposing gene has been neglected in high-risk countries such as Korea, China, and Japan, where all the cases have been attributed to Helicobacter pylori or other carcinogens. Screening for the GC-causing CDH1 mutation may provide valuable information for genetic counseling, testing, and risk-reduction management for the as-yet unaffected family members. An asymptomatic 44-yr-old Korean male visited our genetic clinic for consultation owing to his family history of GC. Eventually, c.1018A>G in CDH1, a known disease-causing mutation, was found. As of the publication time, the individual is alive without the evidence of GC, and is on surveillance. To our knowledge, this is the first Korean case of presymptomatic detection of CDH1 mutation, and it highlights the importance of genetic screening for individuals with a family history of GC, especially in high-risk geographical areas.

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Related in: MedlinePlus

Sequence analysis of CDH1. Direct sequencing showed that he and his older brother he were heterozygous for a c.1018A>G mutation in exon 8, leading to the amino acid substitution from threonine to alanine.
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Figure 2: Sequence analysis of CDH1. Direct sequencing showed that he and his older brother he were heterozygous for a c.1018A>G mutation in exon 8, leading to the amino acid substitution from threonine to alanine.

Mentions: The sequencing revealed that he had a known heterozygous mutation in codon 340 of CDH1, resulting in an amino acid change from threonine to alanine (c.1018A>G, p.Thr340Ala) (Fig. 2). Although he showed no specific symptoms such as nausea or dyspepsia, he was recommended intensive endoscopic surveillance and genetic counseling, considering the CDH1 mutation. For the esophagogastroduodenoscopy (EGD) findings, any macroscopically significant lesion suggesting DGC was not observed in the individual's stomach. In addition, chronic active H. pylori gastritis was found. An endoscopic biopsy was performed by randomly selecting two sites, including lower and higher parts on the greater curvature of the stomach, but the results showed no abnormal pathological findings.


Presymptomatic identification of CDH1 germline mutation in a healthy korean individual with family history of gastric cancer.

Choi HJ, Ki CS, Suh SP, Kim JW - Ann Lab Med (2014)

Sequence analysis of CDH1. Direct sequencing showed that he and his older brother he were heterozygous for a c.1018A>G mutation in exon 8, leading to the amino acid substitution from threonine to alanine.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4151009&req=5

Figure 2: Sequence analysis of CDH1. Direct sequencing showed that he and his older brother he were heterozygous for a c.1018A>G mutation in exon 8, leading to the amino acid substitution from threonine to alanine.
Mentions: The sequencing revealed that he had a known heterozygous mutation in codon 340 of CDH1, resulting in an amino acid change from threonine to alanine (c.1018A>G, p.Thr340Ala) (Fig. 2). Although he showed no specific symptoms such as nausea or dyspepsia, he was recommended intensive endoscopic surveillance and genetic counseling, considering the CDH1 mutation. For the esophagogastroduodenoscopy (EGD) findings, any macroscopically significant lesion suggesting DGC was not observed in the individual's stomach. In addition, chronic active H. pylori gastritis was found. An endoscopic biopsy was performed by randomly selecting two sites, including lower and higher parts on the greater curvature of the stomach, but the results showed no abnormal pathological findings.

Bottom Line: Screening for the GC-causing CDH1 mutation may provide valuable information for genetic counseling, testing, and risk-reduction management for the as-yet unaffected family members.Eventually, c.1018A>G in CDH1, a known disease-causing mutation, was found.To our knowledge, this is the first Korean case of presymptomatic detection of CDH1 mutation, and it highlights the importance of genetic screening for individuals with a family history of GC, especially in high-risk geographical areas.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hospital, Gwanju, Korea.

ABSTRACT
Gastric cancer (GC) is one of the most common cancers with high morbidity and mortality. Familial GC is seen in 10% of cases, and approximately 3% of familial GC cases arise owing to hereditary diffuse gastric cancer (HDGC). CDH1, which encodes the protein E-cadherin, is the only gene whose mutations are associated with HDGC. Screening for the familial GC-predisposing gene has been neglected in high-risk countries such as Korea, China, and Japan, where all the cases have been attributed to Helicobacter pylori or other carcinogens. Screening for the GC-causing CDH1 mutation may provide valuable information for genetic counseling, testing, and risk-reduction management for the as-yet unaffected family members. An asymptomatic 44-yr-old Korean male visited our genetic clinic for consultation owing to his family history of GC. Eventually, c.1018A>G in CDH1, a known disease-causing mutation, was found. As of the publication time, the individual is alive without the evidence of GC, and is on surveillance. To our knowledge, this is the first Korean case of presymptomatic detection of CDH1 mutation, and it highlights the importance of genetic screening for individuals with a family history of GC, especially in high-risk geographical areas.

Show MeSH
Related in: MedlinePlus