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

Project Data

Resource name Description