Hereditary Gastrointestinal Cancer Syndromes | Loyola Medicine

Hereditary Gastrointestinal Cancer Syndromes

Overview and Facts about Hereditary Gastrointestinal Cancer Syndromes

Hereditary gastrointestinal cancer syndromes include a number of conditions that affect digestive health, and more specifically, any part of the gastrointestinal tract, which includes the esophagus, stomach, and intestines. These syndromes are characterized by changes to the gastrointestinal tissue caused by genetic mutations.

Certain genes signal cells to grow and divide, and others to stop or slow down; mutations to the genetic code interfere with these signals, causing abnormal cells to grow and form polyps or tumors.

Untreated, these syndromes will typically develop into cancer. However, early detection of hereditary gastrointestinal cancer syndromes allows patients to take a preventative approach to care. The survival rate of hereditary gastrointestinal cancer syndromes depends on recognizing a person’s genetic predisposition to cancer and effectively managing risk.

Signs and Symptoms of Hereditary Gastrointestinal Cancer Syndromes

Symptoms of hereditary gastrointestinal cancer syndromes typically appear only when polyps or tumors affecting the gastrointestinal tract have become cancerous.

Signs and symptoms of hereditary gastrointestinal cancers:

  • Severe abdominal pain
  • A mass or swelling in the abdomen
  • Rectal bleeding
  • Diarrhea
  • Constipation
  • Rectal pain
  • Blood in the stool or vomit​
  • Fatigue from anemia
  • Pain or difficulty swallowing
  • Feeling full after eating a small amount of food
  • Loss of appetite
  • Nausea
  • Weight loss​​

Causes and Risk Factors of Hereditary Gastrointestinal Cancer Syndromes

Hereditary gastrointestinal cancer syndromes are caused by genetic mutations that are traditionally passed down by a parent. In some cases, genetic mutations occur spontaneously and cause abnormal, uncontrolled growth of cells, forming a tumor or mass.

Risk factors of hereditary cancer syndromes:

  • At least two first degree relatives with cancer
  • Early age of onset
  • Multiple or bilateral tumors (noncancerous or cancerous)
  • A pattern of tumors in the same family (colon cancer, endometrial cancer)
  • Presence of polyps

Tests and Diagnosis of Hereditary Gastrointestinal Cancer Syndromes

Genetic testing and tumor studies for hereditary gastrointestinal cancer syndromes help doctors make a differential diagnosis. Examples of gastrointestinal cancer syndromes include familial adenomatous polyposis and Lynch syndrome.

And endoscopic a procedure inserts a camera into the colon, esophagus, or stomach, is to detect tumors or count polyps in making a prognosis. A sample of tissue (biopsy) may be taken during an endoscopic procedure and examined under a microscope to check if the cells are cancerous or noncancerous. Imaging tests, such as CT and MRI scans, are also used to confirm the presence of tumors or polyps.

Treatment and Care for Hereditary Gastrointestinal Cancer Syndromes

If cancer-causing genes are identified, the patient will be referred to genetic counseling. Surveillance and regular screening for patients with hereditary gastrointestinal cancer syndromes is the primary treatment plan for managing high-risk patients.

Surgery is usually performed to prevent the syndromes from becoming cancerous. Laparoscopy, a minimally invasive approach in which surgical instruments are inserted through a tube in the abdomen wall, is used to remove multiple polyps or tumors, or in some cases, a portion of the intestine or colon. Certain drug therapies can interfere with the ability of a cell to grow and divide; this can also be useful to shrink the tumor so it can be laparoscopically removed.