Abstract
Background Mutations in the APC gene lead to Familial adenomatous polyposis (FAP) and an attenuated form of this condition (AFAP). Mutation detection fails using DNAbased technology in 20% of FAP and 50% of AFAP patients due to testing limitations, inability to determine significance of change, or other responsible genes. A testing protocol in our Hereditary Gastrointestinal Cancer Registry has been developed as a research tool in uncharacterized cases to rule out the obvious APC mutations, using a multi-step approach. This approach offers a significant cost savings which could be applied to clinical genetic testing approaches. Methods
Highlights
Mutations in the APC gene lead to Familial adenomatous polyposis (FAP) and an attenuated form of this condition (AFAP)
CLIA- and research-negative cases were run through an RNA-based assay that encompasses all of the APC intron/exon boundaries, to detect mutations that would not be found through current clinical testing methods
Genetic markers were run on individuals from 154 kindreds, resulting in 1680 potential matches at one or both alleles at each of the 4 genetic markers
Summary
Mutations in the APC gene lead to Familial adenomatous polyposis (FAP) and an attenuated form of this condition (AFAP). Mutation detection fails using DNAbased technology in 20% of FAP and 50% of AFAP patients due to testing limitations, inability to determine significance of change, or other responsible genes. A testing protocol in our Hereditary Gastrointestinal Cancer Registry has been developed as a research tool in uncharacterized cases to rule out the obvious APC mutations, using a multi-step approach. This approach offers a significant cost savings which could be applied to clinical genetic testing approaches
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
