French experts report on MUTYH-associated polyposis (MAP)
Bruno Buecher1, Catherine Bonaïti, Marie-Pierre Buisine
1Department of Genetics, Institut Curie, 26, rue d'Ulm, 75248, Paris Cédex 5, France. bruno.buecher@curie.net
Familial Cancer
|April 28, 2012
Summary
MUTYH-associated polyposis (MAP) is a genetic condition distinct from familial adenomatous polyposis (FAP). This study provides recommendations for diagnosing MAP and managing patients with MUTYH gene mutations.
Area of Science:
- Genetics
- Oncology
- Gastroenterology
Background:
- Adenomatous polyposis encompasses familial adenomatous polyposis (FAP) linked to APC mutations (autosomal dominant).
- MUTYH-associated polyposis (MAP), linked to biallelic MUTYH mutations, follows autosomal recessive inheritance.
- Clinical differentiation between FAP and MAP can be challenging due to overlapping phenotypes.
Purpose of the Study:
- To review current knowledge on MUTYH-associated polyposis (MAP).
- To establish recommendations for molecular analysis and clinical management of MAP.
- To assess colorectal cancer risk in relatives with monoallelic MUTYH mutations.
Main Methods:
- Literature review on MUTYH-associated polyposis.
- Analysis of data from French molecular genetics laboratories performing MUTYH testing.
- Consensus opinions from expert geneticists and gastroenterologists.
Main Results:
- Phenotypic overlap complicates differential diagnosis between MAP and FAP.
- Recommendations for genetic testing indications and interpretation strategies were developed.
- Colorectal cancer risk in monoallelic MUTYH mutation carriers was evaluated.
Conclusions:
- Standardized molecular and clinical management guidelines for MAP are needed.
- Accurate diagnosis of MAP is crucial for appropriate patient management and genetic counseling.
- Further research on cancer risk in monoallelic carriers is warranted.
Related Concept Videos
01:20Mismatch Repair
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
01:36Mismatch Repair
Overview
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:42Microtubule Associated Proteins (MAPs)
Microtubule function and architecture are regulated by an array of specialized proteins called microtubule-associated proteins or MAPs. These proteins are widespread across different organisms and have conserved protein motifs, like the multi-TOG domain for tubulin binding found in the CLASP family of MAPs. Some MAPs are lineage-specific based on their conserved domains. Their functions depend upon the cytoskeletal architecture and cell type they are located within. In-plant cells, a specific...