Related Experiment Video
Updated: May 10, 2026
Real-time Imaging of Myeloid Cells Dynamics in ApcMin/+ Intestinal Tumors by Spinning Disk Confocal Microscopy
Published on: October 6, 2014
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case
Natalia Grot1, Marek Kazimierczyk1, Marcin Szuman1
1Polish Academy of Sciences, Institute of Human Genetics, Strzeszyńska 32, Poznań, 60-479, Poland.
Abstract:
Multiple polyposis syndromes include Familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), Juvenile polyposis syndrome (JPS), PTEN hamartoma tumor syndrome (PHTS), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP), Polymerase proofreading-associated polyposis (PPAP), and MBD4-associated polyposis. Common to these syndromes is the presence of polyps in the large intestine and very high risk of developing colorectal cancer (CRC), which can reach up to 100% in the case of FAP. The development of FAP is associated with pathogenic variants of the APC gene. However, pathogenic variants are not always detected in patients with FAP, which poses a significant clinical challenge for both patients and their families, who may be at increased risk for developing the disease. A second strong predisposition to CRC is MAP, characterized by biallelic pathogenic variants in the MUTYH gene, with a phenotype similar to FAP. This mini review focuses on potential approaches to improve the diagnosis of patients in whom pathogenic variants in the APC and MUTYH genes are not detected by routine testing.
Insights
Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) increase colorectal cancer risk. Diagnostic challenges arise when APC or MUTYH gene variants are undetected, necessitating improved diagnostic strategies for these hereditary cancer syndromes.
Area of Science:
- Genetics
- Oncology
- Gastroenterology
Background:
- Multiple polyposis syndromes, including FAP and MAP, are linked to a high risk of colorectal cancer (CRC).
- FAP is primarily caused by APC gene variants, while MAP involves MUTYH gene variants, presenting similar phenotypes.
- Undetected pathogenic variants in APC or MUTYH pose diagnostic challenges for hereditary cancer syndromes.
Purpose of the Study:
- To review diagnostic approaches for polyposis syndromes.
- To address challenges in identifying pathogenic variants in APC and MUTYH genes.
- To explore strategies for improving diagnosis in patients with suspected FAP or MAP without detected gene variants.
Main Methods:
- Literature review of polyposis syndromes.
- Analysis of diagnostic challenges in FAP and MAP.
- Discussion of potential improvements in genetic testing and diagnostics.
Main Results:
- APC and MUTYH gene variants are key in FAP and MAP, respectively.
- A subset of patients with FAP lack detectable APC variants.
- Current diagnostic methods may not identify all causative genetic alterations in polyposis syndromes.
Conclusions:
- Improved diagnostic methods are crucial for patients with FAP and MAP.
- Further research is needed to identify genetic factors beyond APC and MUTYH in polyposis syndromes.
- Enhanced diagnostic strategies will aid in risk assessment and management for affected families.
More Related Videos
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
07:35Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection
Published on: June 8, 2020
