ID
45985
Descripción
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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Versiones (1)
- 6/4/24 6/4/24 - Madita Rudolph
Titular de derechos de autor
Nicholas O. Davidson, MD, Washington University, St. Louis, MO, USA
Subido en
6 de abril de 2024
DOI
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Licencia
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.
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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])