School of Medicine Publications and Presentations
Document Type
Article
Publication Date
2-2021
Abstract
Familial adenomatous polyposis (FAP) is an autosomal-dominant condition characterized by the presence of multiple colorectal adenomas, caused by germline variants in the adenomatous polyposis coli (APC) gene. More than 300 germline variants have been characterized. The detection of novel variants is important to understand the mechanisms of pathophysiology. We identified a novel pathogenic germline variant using next-generation sequencing (NGS) in a proband patient. The variant is a complex rearrangement (c.422+1123_532-577 del ins 423-1933_423-1687 inv) that generates a complete deletion of exon 5 of the APC gene. To study the variant in other family members, we designed an endpoint PCR method followed by Sanger sequencing. The variant was identified in the proband patient’s mother, one daughter, her brother, two cousins, a niece, and a second nephew. In patients where the variant was identified, we found atypical clinical symptoms, including mandibular, ovarian, breast, pancreatic, and gastric cancer. Genetic counseling and cancer prevention strategies were provided for the family. According to the American College of Medical Genetics (ACMG) guidelines, this novel variant is considered a PVS1 variant (very strong evidence of pathogenicity), and it can be useful in association with clinical data for early surveillance and suitable treatment. View Full-Text
Recommended Citation
Garza-Rodríguez, María Lourdes; Treviño, Víctor; Pérez-Maya, Antonio Alí; Rodríguez-Gutiérrez, Hazyadee Frecia; González-Escamilla, Moisés; Elizondo-Riojas, Miguel Ángel; and Ramírez-Correa, Genaro A., "Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer" (2021). School of Medicine Publications and Presentations. 496.
https://scholarworks.utrgv.edu/som_pub/496
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Publication Title
Diagnostics
DOI
10.3390/diagnostics11030411
Academic Level
faculty
Mentor/PI Department
Molecular Science
Comments
Copyright 2022 The Authors.