Solutions
Online Inquiry

Please note that we are not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Inquiry

Familial Adenomatous Polyposis (FAP)

Familial adenomatous polyposis (FAP) is an autosomal dominant genetic syndrome, also known as adenomatous polyposis coli, which is caused by mutations in the tumor suppressor gene adenomatous polyposis coli (APC) leading to the development of colorectal cancer. Developing new therapeutics methods based on the pathogenesis of FAP is the key to improving the cure rate of FAP. Our company has rich experience and absolute advantages in providing drugs and molecular therapies for FAP.

Introduction to FAP

Familial adenomatous polyposis (FAP) is a rare colorectal cancer syndrome with an incidence of about 1/8300. If untreated, it is likely to develop into colorectal cancer (CRC), which is characterized by hundreds to thousands of densely growing polypoid adenomas in the gastrointestinal tract. Individuals are often accompanied by other complications, such as congenital retinal pigment epithelial hyperplasia, thyroid cancer, bone tumors, and so on.

Pathogenesis of FAP

The pathogenesis of this disease is due to a mutation in the APC gene located on chromosome 5q21, which leads to transcription factors β-catenin interacting with DNA binding proteins, thereby promoting uncontrolled cell proliferation. In addition, other mechanisms such as changes in gut microbiota composition or immune environment, and interactions between estrogen and other signaling pathways can all lead to cancer occurrence (Fig.1).

The complex interplay between several factors contributing to cancer onset in FAP individuals. Fig.1 The complex interplay between several factors contributing to cancer onset in FAP individuals. (Ditonno, Ilaria, et al., 2023)

Diagnostics Development of FAP

The diagnosis of FAP mainly includes colonoscopy and genetic testing. When the number of adenomas in the colon or rectum reaches 100 or more, FAP is suspected. Genetic testing is used to determine whether there is a P/LP variant in the APC gene. Specifically, different site mutations in the APC gene lead to different tumor phenotypes (Fig.2). At present, emerging technologies use fluorescently labeled antibodies as cancer-specific molecular probes to improve the efficiency of tumor diagnosis.

TLoci of mutations in the APC gene and genotype-phenotype associations.Fig.2 Loci of mutations in the APC gene and genotype-phenotype associations. (Kyriakidis, Filippos, et al., 2023)

Therapy of FAP

Small Molecule Drugs Therapy

APC mutation in colon adenoma causes abnormal expression of cyclooxygenase (COX). Single or combined use of COX inhibitors (such as celecoxib, sulindac, etc.), and inhibition of related signaling pathway molecules (such as mTOR pathway) can be used as an effective regimen for FAP therapeutics.

Gene Therapy

Gene therapy for FAP mainly focuses on the blockage of related signaling pathways. For example, knockout of deubiquitinating enzyme USP7 significantly reduced the expression of Wnt target genes and inhibited the development of CRC in APC mutant mice.

Our Services

As a cutting-edge explorer in the field of life technology, our company continues to be driven by innovation and technology, committed to promoting the development of FAP diagnosis and therapeutics technology. Our technical expertise lies in specific diagnosis, target screening, small molecule drug development, and the application of gene therapy methods.

Platforms of FAP Therapy Development

Animal Models of FAP

The animal models have been valuable tools for researchers in understanding the molecular mechanisms underlying FAP, testing potential therapies, and developing strategies for prevention and treatment of the disease. Our company of experts is dedicated to providing you with high-quality animal models and comprehensive support services to help you achieve your research goals.

Chemical-induced Models
C57BL/6J (B6) were treated with N-Ethyl-N-Nitrosourea (ENU) and then crossed to AKR mice to generate progeny harboring ENU-induced germline mutations, which developed the first mouse model of FAP in a forward genetic screen.
Optional Models ENU
Genetically Engineered Models
There are several animal models for FAP, mainly mice models that have been developed to study the disease, in which a mutation in the Apc gene results in the development of large intestine polyps. The main difference is the location of the Apc truncation mutation in the model of FAP.
Optional Models ApcMin/+, Apc1638N, Apc1322T, Apc1638T
Optional Species Mice, Pigs, Drosophila, Zebrafish, Others

We provide a full range of services for your needs to help you in the study of FAP diagnosis and therapeutics. Our services include FAP disease model construction, drug safety evaluation, therapeutic effect, and molecular mechanism exploration. Each link has undergone sufficient theoretical research and careful design to effectively promote the research progress of FAP.

If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

References

  • Kyriakidis F., et al. "Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis." The application of clinical genetics 16 (2023): 139-153.
  • Kemp Bohan P. M., et al. "Chemoprevention in familial adenomatous polyposis: past, present and future." Familial cancer 20.1 (2021): 23-33.
  • Ditonno I., et al. "Molecular Pathways of Carcinogenesis in Familial Adenomatous Polyposis." International journal of molecular sciences 24.6 (2023): 5687.
  • Novellasdemunt L., et al. "USP7 inactivation suppresses APC-mutant intestinal hyperproliferation and tumor development." Stem cell reports 18.2 (2023): 570-584.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

Related Services

Copyright © Protheragen. All rights reserves.