Hereditary Colorectal Cancer Syndromes

  • Emily Huang
  • Michael F. McGeeEmail author


Approximately 30% of colorectal cancer cases are associated with a family history of colorectal polyps or cancer, but only 3–5% of cases are associated with a specifically identifiable inheritable colorectal cancer syndrome. The most commonly identifiable cause of inheritable colorectal cancer is Lynch syndrome, characterized by a specific mutation in one of the deoxyribonucleic acid (DNA) mismatch repair (MMR) or epithelial cellular adhesion molecule (EPCAM) genes. Hereditary nonpolyposis colorectal cancer (HNPCC) refers to a patient or kindred who meets the Amsterdam criteria. Hereditary polyposis syndromes are a group of hereditary disorders characterized by a plethora of polyps throughout the gastrointestinal tract that predispose the patient to cancer. The algorithms presented herein detail contemporary evaluation and management of patients with suspected inheritable colon cancer syndromes or polyposis.


Lynch syndrome Hereditary nonpolyposis colorectal cancer (HNPCC) Colon cancer Colon polyp Rectal cancer Colonoscopy Cancer treatment Surgery 


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of SurgeryUniversity of ChicagoChicagoUSA
  2. 2.Department of SurgeryNorthwestern Memorial HospitalChicagoUSA

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