A 30‐Year‐Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency. Issue 1 (2017)

• Record Type: Journal Article
• Authors: Rengifo‐Cam, William; Jasperson, Kory; Garrido‐Laguna, Ignacio; Colman, Howard; Scaife, Courtney; Samowitz, Wade; Samadder, Jewel N.
• Is Part Of: ACG Case Reports Journal. Volume 4:Issue 1(2017)
• Publication Date: 2017
• DOI: 10.14309/crj.2017.34
• Languages: English
• ISSNs: 2326-3253

Abstract

ABSTRACT : N/A: Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early‐onset colorectal cancer.