Gastrointestinal Cancer Syndromes
What are gastrointestinal cancer syndromes?
Cancer is often a seemingly random event or related to lifestyle choices like tobacco use. Sometimes a type of cancer can affect multiple family members across multiple generations, seemingly less random or associated with a lifestyle choice. When these cancers affect the gastrointestinal tract, they are called gastrointestinal cancer syndromes.
These syndromes often lead to cancers that are earlier than expected, and often the cancer can be advanced at diagnosis due to the lack of screening at younger ages. There are also cancers outside the gastrointestinal tract that are associated with these syndromes. Suspicion is raised when there are multiple family members with cancers in organs like the pancreas, esophagus, stomach, small intestine and colon. Other common non-gastrointestinal cancer include urinary tract and female reproductive organs. The two most common are Lynch syndrome and Familial Adenomatous Polyposis (FAP) syndrome.
Lynch (hereditary nonpolyposis colorectal cancer- HNPCC) syndrome
Lynch syndrome is the most common inherited colon cancer syndrome. It is associated with a high risk of colon and endometrial cancer. Other Lynch syndrome cancers include stomach, small bowel, pancreas, biliary, ovarian, kidney, bladder and some forms of skin cancer. Diagnosis of this syndrome is based on testing an identified tumor or genetic testing a suspected person who has a strong family history of Lynch syndrome-associated cancers. Detection of the gene mutations in one family should lead to testing other family members for the same mutation. Clinical suspicion for this condition should be aroused when there are multiple family members with Lynch syndrome-associated cancers, across multiple generations and including at least one family member with a cancer before age 50.
Some physicians may mention a “3-2-1” rule in regard to Lynch syndrome: 3 family members, at least 2 generations and one cancer occurring before age 50. Surveillance protocols are instituted once the diagnosis is made with colonoscopy, upper endoscopy, ultrasounds, urinalysis and lab testing. Compared with the general population, surveillance exams and testing are done much more frequently.
Familial adenomatous polyposis (FAP)
Familial adenomatous polyposis is a disorder that leads to the formation of many — sometimes hundreds — of precancerous polyps in the colon. There is a high risk of colon cancer, and once this is diagnosed, complete removal of the colon may be recommended. There is also an increased risk of stomach and duodenum (first part of the small bowel) cancers, as polyps can be found in both areas. Surveillance regimens in these patients include frequent colonoscopy and upper endoscopy examinations.
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