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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
The ~80% of individuals with classic familial adenomatous polyposis (FAP) have detectable mutations in the coding sequence of the adenomatous polyposis coli (APC) gene. To investigate the 20% of families without detectable causative mutations, we used exome sequencing and second-generation sequencing of the APC locus including non-coding regions. We identified a novel ~11kb deletion 44kb upstream of APC that was present only in affected individuals of three kindreds. SNP analysis showed that this ~11kb deletion was accompanied by silencing of one of the APC alleles in blood-derived RNA of affected individuals.
- Study Design:
- Mendelian
- Study Type:
- Mendelian
- Total number of consented subjects: 8
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
Inclusion Criteria: Individuals with classic familial adenomatous polyposis were tested for known APC mutations with Colaris AP® (Myriad Genetic Laboratories). Those without detectable mutations by Colaris AP® and consenting family members were enrolled.
Exclusion Criteria: Individuals with sporadic gastrointestinal cancer or a family history of cancer not suggestive of hereditary or familial diseases were excluded.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Exome Capture Sequencing Agilent SureSelect 38Mb N/A N/A Exome Capture Sequencing Agilent SureSelect 72Mb N/A N/A - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Familial Adenomatous Polyposis
- Colonic Neoplasms
- Links to Related Genes
- Authorized Data Access Requests
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See research articles citing use of the data from this study
- Study Attribution
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Principal Investigator
- Nicholas O. Davidson, MD. Washington University, St. Louis, MO, USA.
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Funding Source
- 5P30 DK052574. National Institutes of Health, Bethesda, MD, USA.
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Principal Investigator