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Constitutional Mismatch Repair-Deficiency Syndrome

Allred, Rebecca J. MD; Samowitz, Wade MD

Pathology Case Reviews:
doi: 10.1097/PCR.0b013e31828c33a5
Case Reviews

Abstract: Constitutional mismatch repair-deficiency is a rare cause of early onset cancers, including those commonly associated with Lynch syndrome. We report a case of 2 siblings who presented with multiple adenomatous polyps in their 20s and discuss the differential diagnosis and pathogenesis of several hereditary polyposis syndromes.

Author Information

From the Department of Pathology, University of Utah, Salt Lake City, UT.

Reprints: Rebecca J. Allred, MD, Huntsman Cancer Hospital, Attn: Pathology, 1950 Circle of Hope, RM N3105, Salt Lake City, UT 84112. E-mail:

The authors have no funding or conflicts to declare.

© 2013 Lippincott Williams & Wilkins, Inc.