Abstract
Diagnosis of hereditary colorectal cancer syndromes requires clinical suspicion and
knowledge of such syndromes. Lynch syndrome is the most common cause of hereditary
colorectal cancer. Other less common causes include familial adenomatous polyposis
(FAP), Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome, and others. There
have been a growing number of clinical and molecular tools used to screen and test
at risk individuals. Screening tools include diagnostic clinical criteria, family
history, genetic prediction models, and tumor testing. Patients who are high risk
based on screening should be referred for genetic testing.
Keywords
Lynch syndrome - familial adenomatous polyposis - Peutz-Jeghers syndrome
