Work

A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency

Year: 2017

Type: article

Abstract: 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.

Source: ACG Case Reports Journal

DOI: 10.14309/crj.2017.34

Authors: William Rengifo-Cam, Kory Jasperson, Ignacio Garrido-Laguna, Howard Colman, Courtney Scaife, Wade Samowitz, Jewel N. Samadder

Institutions: Jupiter Medical Center, The University of Texas Southwestern Medical Center, Huntsman Cancer Institute, University of Utah

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W2593593202

FWCI: 0.43

Cites: 9

Cited by: 4

Related to: 10