Accession |
PRJCA002322 |
Title |
Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis |
Relevance |
Medical |
Data types |
Whole genome sequencing
Exome
Transcriptome or Gene expression
Raw sequence reads
|
Organisms |
Homo sapiens
|
Description |
Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas at different evolutionary stages in the colon and rectum that will inevitably progress to adenocarcinomas if left untreated. Here, we investigated the genetic alterations and transcriptomic transitions from precancerous adenoma to carcinoma. Whole-exome sequencing, whole-genome sequencing, and single-cell RNA sequencing were performed on matched adjacent normal tissues, multiregional sampled adenomas at different stages and carcinomas from six patients with FAP and one patient with MUTYH-associated polyposis (n=56 exomes, n=56 genomes, and n=8,757 single cells). Genomic alterations (including copy number alterations and somatic mutations), clonal architectures and transcriptome dynamics during adenocarcinoma carcinogenesis were comprehensively investigated. |
Sample scope |
Multiisolate |
Release date |
2020-05-26 |
Publication |
PubMed ID |
Article title |
Journal name |
DOI |
Year |
31744909
|
Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis
|
Gut
|
10.1136/gutjnl-2019-319438
|
2019
|
|
Grants |
Agency |
program |
Grant ID |
Grant title |
Beijing Advanced Innovation Center for Genomics
|
N/A
|
N/A
|
N/A
|
|
Submitter |
Fuchou
Tang (tangfuchou@pku.edu.cn)
|
Organization |
Peking University |
Submission date |
2020-03-03 |