Genetics

Our goal at the Gastrointestinal Cancer Prevention and Genetics Program is to prevent cancer or detect the earliest signs of cancer. Our patients benefit from the specialized expertise of our multidisciplinary team, which includes gastroenterologists, geneticists, medical oncologists, gynecologists, surgeons, and genetic counselors.

Our approach begins with an office consultation, in which a patient meets with a gastroenterologist and certified genetic counselor specializing in inherited gastrointestinal cancer syndromes. This genetic risk evaluation is individualized to each patient’s unique personal and family cancer history. We then make recommendations that may include procedures for cancer screening and prevention. Patients are educated about cancer risks and the implications for them and their family members.

Our team provides patients and their referring physicians with individualized cancer screening data and prevention strategies. Counselors interpret genetic testing results and keep patients and providers up to date with new genetic testing options.

We also offer additional procedures and examinations for non-gastrointestinal malignancies (such as breast, thyroid, uterus, and ovaries).

Conditions We Treat

The genetic evaluation related to gastrointestinal cancers is rapidly changing. We provide the most current options available in genetic testing that include but are not limited to the following inherited cancer syndromes:

• Lynch syndrome or Hereditary nonpolyposis colorectal cancer: This condition is the most common inherited colorectal cancer syndrome affecting multiple family members in each generation. It also includes cancers other than colon.
• Familial adenomatous polyposis (FAP) and Attenuated familial adenomatous polyposis or MYH polyposis: This condition usually involves multiple polyps in the colon and often the stomach and small intestine.
• Familial pancreatic cancer: Some families have multiple relatives in several generations affected by pancreatic cancer.
• Hereditary gastric cancer: Some families have multiple relatives in successive generations affected by stomach cancer or polyps, and there is an association with breast cancer.

Other rare conditions for which genetic evaluation and testing are available include:

• Cowden syndrome: Characterized by hamartomatous intestinal polyps and cancers of the breast, uterus, and thyroid. It involves the gene PTEN.
• Peutz-Jeghers syndrome: Characterized by hamartomatous intestinal polyps, freckling of the mouth or lips, gynecological cancers, and cancers of the pancreas
• Juvenile polyposis: Associated with pancreatic cancer and polyps of the stomach, intestine, and colon
• Li-Fraumeni syndrome: Includes multiple cancers, such as sarcomas, colon, breast, adrenals, and the development of cancer in childhood

Our Services

Our team offers specialized expertise in the following areas:

• Personalized cancer risk assessment
• Genetic counseling and testing
• Cancer screening, including endoscopy/colonoscopy, endoscopic ultrasound, endoscopic retrograde cholangiopancreatogram (ERCP), and magnetic resonance imaging (MRI)
• Cancer prevention strategies