Work

Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation

Year: 2007

Type: article

Abstract: We describe the case of a patient with transcobalamin II deficiency, hypogammaglobulinemia, absent corpus callosum, and mental retardation who presented at an early age with colorectal cancer and multifocal anaplastic astrocytoma. He was found to have a possible germline mutation of the PMS2 gene, as evidenced by absent protein expression in both normal and tumor tissues. His parents were found to be carriers of a nonsense mutation of the PMS2 gene.

Source: Neuro-Oncology

DOI: 10.1215/15228517-2007-037

Authors: Sridharan Gururangan, Wendy Frankel, Russell Broaddus, Mark Clendenning, Leigha Senter, Marie McDonald, James Eastwood, David Reardon, James Vredenburgh, Jennifer Quinn, Henry S. Friedman

Institutions: The University of Texas MD Anderson Cancer Center, Duke University, Duke Medical Center, The Ohio State University

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: green

OpenAlex ID: W1971646868

FWCI: 0.414

Cites: 15

Cited by: 25

Related to: 10