CDH1 on 16q22.1 encodes E-cadherin which functions in intercellular adhesion. E-cadherin is involved in transmitting chemical signals and controlling cell maturation and movement, and acts as a tumor suppressor. A lack of functional E-cadherin impairs cell adhesion and increases the likelihood of invasion and metastasis of tumor cells. More than 100 different pathogenic germline mutations are distributed throughout the CDH1 gene including splice-site sequences and have been found to cause a familial cancer disorder called hereditary diffuse gastric cancer (HDGC). Somatic CDH1 alterations are also found in approximately 30% of all patients with gastric cancers, both diffuse and intestinal types. CDH1 mutation identification in HDGC families is clinically important to assess the risk of gastric and breast cancers in unaffected relatives. Prognostic and therapeutic implications of this alterations remain to be fully elucidated. The 50 gene panel hotspot assay can not distinguish between germline or somatic(acquired) variants. Correlation with other clinical and lab findings, including genetic counseling, may be helpful, if clinically indicated.

CDH1 on 16q22.1 encodes E-cadherin which functions in intercellular adhesion. E-cadherin is involved in transmitting chemical signals and controlling cell maturation and movement, and acts as a tumor suppressor. A lack of functional E-cadherin impairs cell adhesion and increases the likelihood of invasion and metastasis of tumor cells. Invasive lobular breast cancer (ILC) accounts for 10-15% of invasive breast cancers and is characterized by loss of E-cadherin expression due to mutations, loss of heterozygosity and hypermethylation. Germline CDH1 mutations have been found to cause a familial cancer disorder called hereditary diffuse gastric cancer (HDGC). CDH1 mutation identification in HDGC families has important clinical implications for gastric and breast cancers risk assessment in unaffected family members. The estimated risk for invasive lobular carcinoma in females with germline CDH1 mutations is approximately 40% by age 80 years. Prognostic and therapeutic implications of this alteration remain to be fully elucidated. The 50 gene panel hotspot assay cannot distinguish between germline or somatic (acquired) variants. Correlation with other clinical and lab findings, including genetic counseling, may be helpful, if clinically indicated.

This gene is a known cancer gene.

This gene is a known cancer gene.

CDH1 on 16q22.1 encodes E-cadherin which functions in intercellular adhesion. E-cadherin is involved in transmitting chemical signals and controlling cell maturation and movement, and acts as a tumor suppressor. CDH1 is rare in this tumor type and is found in approximately 1% of glioblastomas. The CDH1 A403T variant has not been characterized in the literature and therefore has an unknown effect on protein function and is best classified as a variant of uncertain significance (VUS). The clinical significance of CDH1 in glioblastoma is unknown and its clinicopathologic effect remains to be further elucidated.

CDH1 on 16q22.1 encodes E-cadherin which functions in intercellular adhesion. E-cadherin is involved in transmitting chemical signals and controlling cell maturation and movement, and acts as a tumor suppressor. A lack of functional E-cadherin impairs cell adhesion and increases the likelihood of invasion and metastasis of tumor cells. CDH1 is altered by mutation or deletion in various cancers and loss of E-cadherin has been demonstrated in a variety of sporadic cancer types including breast cancer, gastric cancer, colorectal cancer, and esophageal cancer. Along with point mutations and loss of heterozygosity (LOH), epigenetic silencing by hypermethylation of the CDH1 promoter has been associated with the loss of E-cadherin gene expression during cancer progression. Individuals with a germline CDH1 mutation have an increased risk of developing diffuse gastric cancer and breast cancer. More than 100 different pathogenic germline mutations are distributed throughout the CDH1 gene including splice-site sequences and have been found to cause a familial cancer disorder called hereditary diffuse gastric cancer (HDGC). Somatic CDH1 alterations are also found in approximately 30% of all patients with gastric cancers, both diffuse and intestinal types. Genetic alterations of CDH1 have been identified in 4% of colorectal adenocarcinomas. CDH1 D400V lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org) and mutations in this locus has been reported previously.

CDH1 on 16q22.1 encodes E-cadherin which functions in intercellular adhesion. E-cadherin is involved in transmitting chemical signals and controlling cell maturation and movement, and acts as a tumor suppressor. A lack of functional E-cadherin impairs cell adhesion and increases the likelihood of invasion and metastasis of tumor cells. CDH1 is altered by mutation or deletion in various cancers and loss of E-cadherin has been demonstrated in a variety of sporadic cancer types including breast cancer, gastric cancer, colorectal cancer, and esophageal cancer. Along with point mutations and loss of heterozygosity (LOH), epigenetic silencing by hypermethylation of the CDH1 promoter has been associated with the loss of E-cadherin gene expression during cancer progression. Individuals with a germline CDH1 mutation have an increased risk of developing diffuse gastric cancer and breast cancer. More than 100 different pathogenic germline mutations are distributed throughout the CDH1 gene including splice-site sequences and have been found to cause a familial cancer disorder called hereditary diffuse gastric cancer (HDGC). Somatic CDH1 alterations are also found in approximately 30% of all patients with gastric cancers, both diffuse and intestinal types. Genetic alterations of CDH1 have been identified in 4% of colorectal adenocarcinomas. CDH1 D400V lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D400V has not been characterized in the scientific literature and therefore, its effect on CDH1 protein function is unknown.