Hereditary diffuse gastric cancer

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Hereditary diffuse gastric cancer
Total gastrectomy with Roux-en-Y.png
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Stomach pain, nausea, vomiting, weight loss, anemia
Complications Metastasis, malnutrition, anemia
Onset Typically in adulthood
Duration Chronic
Types N/A
Causes Genetic mutation in the CDH1 gene
Risks Family history of the condition, genetic predisposition
Diagnosis Genetic testing, endoscopy, biopsy
Differential diagnosis Sporadic gastric cancer, Peptic ulcer disease, Gastroesophageal reflux disease
Prevention Prophylactic gastrectomy, regular endoscopic surveillance
Treatment Surgery, chemotherapy, radiation therapy
Medication Chemotherapy drugs
Prognosis Variable, depends on stage at diagnosis
Frequency Rare
Deaths High mortality if untreated


Hereditary Diffuse Gastric Cancer (HDGC) is a form of stomach cancer that is passed down through families. This condition is characterized by the development of diffuse-type gastric cancer at a young age.

Causes

HDGC is caused by mutations in the CDH1 gene. This gene provides instructions for making a protein that helps cells stick together and is essential for the normal structure and function of tissues and organs. Mutations in the CDH1 gene disrupt this function, leading to the formation of cancerous tumors.

Symptoms

The most common symptom of HDGC is abdominal pain. Other symptoms may include nausea, vomiting, loss of appetite, and weight loss. In some cases, individuals with HDGC may not show any symptoms until the disease is advanced.

Diagnosis

Diagnosis of HDGC typically involves a combination of genetic testing, endoscopy, and biopsy. Genetic testing can identify mutations in the CDH1 gene, while endoscopy and biopsy can confirm the presence of cancerous cells in the stomach.

Treatment

Treatment for HDGC often involves surgery to remove the stomach (gastrectomy). Other treatments may include chemotherapy, radiation therapy, and targeted therapies.

Prognosis

The prognosis for individuals with HDGC varies. Early detection and treatment can improve the prognosis, but the overall survival rate is low due to the aggressive nature of this type of cancer.

See Also

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Contributors: Prab R. Tumpati, MD