Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Colon Cancer Pathology of Hereditary Forms

  • Zoran Gatalica
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_6555-2


Approximately 5 % of all colorectal carcinomas are due to a defined single genetic defect causing hereditary disease. Gross and microscopic pathologic examination of the resection or biopsy specimen can help identify an unsuspected case of hereditary colorectal carcinoma due to the characteristic morphologic findings seen in some syndromes. Additional immunohistochemical and molecular studies can then provide a definitive diagnosis. Furthermore, due to the germline nature of mutations in these syndromes, various extracolonic manifestations may be the first sign of the disease, and knowledge of such associations can greatly improve the quality of care for these patients.


Colorectal Cancer in Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)

The most common form of hereditary colorectal carcinoma is Lynch syndrome (synonymhereditary nonpolyposis colorectal cancer, HNPCC) caused by inactivating mutation(s) in genes for DNA mismatch repair (MMR)...


Papillary Thyroid Carcinoma Familial Adenomatous Polyposis Lynch Syndrome Desmoid Tumor Polyposis Syndrome 
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  1. Atard TM, Young RJ (2006) Diagnosis and management of gastrointestinal polyps. Gastroenterol Nurs 29:16–22CrossRefGoogle Scholar
  2. Boland CR (2006) Decoding hereditary colorectal cancer. N Engl J Med 354:2815–2817CrossRefPubMedGoogle Scholar
  3. Burgart LJ (2005) Testing for defective mismatch repair in colorectal carcinoma. A practical guide. Arch Pathol Lab Med 129:1385–1389PubMedGoogle Scholar
  4. Gatalica Z, Torlakovic E (2008) Pathology of the hereditary colorectal carcinoma. Fam Cancer 7:15–26CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Department of PathologyCreighton University School of MedicineOmahaUSA