ID
45985
Descrição
Principal Investigator: Nicholas O. Davidson, MD, Washington University, St. Louis, MO, USA MeSH: Familial Adenomatous Polyposis,Colonic Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000904 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.
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Versões (1)
- 06/04/2024 06/04/2024 - Madita Rudolph
Titular dos direitos
Nicholas O. Davidson, MD, Washington University, St. Louis, MO, USA
Transferido a
6 de abril de 2024
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000904 APC Promoter Deletion in Classic Familial Adenomatous Polyposis
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, subject aliases, and affection status of subject for colonic polyposis.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, and sex.
- The subject sample mapping data table contains a mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes subject IDs, onset age, sex, colonic polyposis, and other tumors.
- This sample attributes table includes sample IDs, body site where sample was collected, analyte type, tumor status, histological type, and name of the center which conducted sequencing.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, subject aliases, and affection status of subject for colonic polyposis.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, and sex.
- The subject sample mapping data table contains a mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes subject IDs, onset age, sex, colonic polyposis, and other tumors.
- This sample attributes table includes sample IDs, body site where sample was collected, analyte type, tumor status, histological type, and name of the center which conducted sequencing.
C0680251 (UMLS CUI [1,2])
C0032580 (UMLS CUI [1,2])
C4522286 (UMLS CUI [1,3])
C0039593 (UMLS CUI [1,4])
C1512693 (UMLS CUI [2,1])
C0021430 (UMLS CUI [2,2])
C0086282 (UMLS CUI [2,3])
C0685938 (UMLS CUI [1,2])
C0205422 (UMLS CUI [1,3])
C0680251 (UMLS CUI [2,1])
C0260515 (UMLS CUI [2,2])
C0019247 (UMLS CUI [2,3])
C1272460 (UMLS CUI [2,4])