CDH1 Gene Mutation | Important Points

The CDH1 gene is a tumor suppressor gene that encodes the protein E-cadherin. E-cadherin is responsible for maintaining cell-to-cell adhesion, which is crucial for normal tissue development. Mutations in the CDH1 gene can lead to the loss of E-cadherin function and ultimately result in the development of a range of cancers, most notably hereditary diffuse gastric cancer (HDGC).

What is a CDH1 Gene Mutation?

CDH1 gene mutations are genetic changes that alter the structure or function of the CDH1 gene. There are several types of CDH1 mutations, including missense, nonsense, frameshift, and splice site mutations. These mutations can affect the production or stability of the E-cadherin protein. Depending on the nature and location of the mutation, the effects can vary from no discernible effect to the complete loss of E-cadherin expression.

CDH1 Gene and Hereditary Diffuse Gastric Cancer

Hereditary diffuse gastric cancer (HDGC) is a rare type of cancer that affects the stomach. HDGC is caused by inherited mutations in the CDH1 gene. Individuals with HDGC have an increased risk of developing diffuse-type gastric cancer, which is a type of stomach cancer that grows and spreads rapidly. The risk of developing HDGC is very high for individuals who have a CDH1 mutation; approximately 80 percent of individuals with a CDH1 mutation will develop HDGC in their lifetime.

CDH1 Gene and Other Types of Cancer

In addition to HDGC, mutations in the CDH1 gene have been identified in several other types of cancer, including lobular breast cancer, ovarian cancer, pancreatic cancer, prostate cancer, and colorectal cancer. In these cases, the CDH1 mutation is not inherited but rather occurs spontaneously during the development of the tumor.

Diagnosis and Treatment of CDH1 Gene Mutations

The diagnosis of CDH1 gene mutations is typically made through genetic testing. Genetic testing can be done to determine if an individual has a CDH1 mutation, which can help identify individuals at high risk for developing HDGC. For individuals who have a known CDH1 mutation, regular surveillance and risk-reducing surgery are recommended to reduce the risk of gastric cancer.

Surveillance for individuals with a CDH1 mutation typically involves regular endoscopies and biopsies to monitor for any signs of cancer in the stomach. Risk-reducing surgery may involve the removal of the stomach (total gastrectomy) or a portion of the stomach (subtotal gastrectomy). Risk-reducing surgery is typically only recommended for individuals with a confirmed CDH1 mutation and a strong family history of HDGC.

Risk-reducing surgery can be challenging for individuals, as it involves a significant change to diet and lifestyle. Following surgery, individuals may experience a range of symptoms including nausea, vomiting, diarrhea, dumping syndrome, and nutritional deficiencies. It is important for individuals to work closely with a healthcare team to manage these symptoms and maintain proper nutrition after surgery.

Research and Future Directions

Research into CDH1 gene mutations is ongoing. Scientists are working to better understand the molecular mechanisms that underlie the development of HDGC and other cancers associated with CDH1 mutations. This research may help to identify new therapeutic targets and treatment strategies for these cancers.

In addition, researchers are exploring the potential of gene editing technologies such as CRISPR/Cas9 for correcting CDH1 mutations. Gene editing technologies allow scientists to precisely target and alter specific genes, which could potentially be used to correct CDH1 mutations in individuals with HDGC.

mutyh gene mutation | Important Points


CDH1 gene mutations are genetic changes that can lead to the development of a range of cancers, most notably HDGC. Genetic testing can help identify individuals at high risk for developing HDGC, and regular surveillance and risk-reducing surgery are recommended to reduce the risk of gastric cancer. Research into CDH1 gene mutations is ongoing, and new treatment strategies and potential cures may emerge from this research in the future.

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