Genomic amplification of chromosome 20q13.33 is the early biomarker for the development of sporadic colorectal carcinoma - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue BMC Medical Genomics Année : 2020

Genomic amplification of chromosome 20q13.33 is the early biomarker for the development of sporadic colorectal carcinoma

Vo-Minh-Hoang Bui
  • Fonction : Auteur
Clément Mettling
Jonathan Jou
  • Fonction : Auteur
H Sunny Sun
  • Fonction : Auteur correspondant
  • PersonId : 1086232

Connectez-vous pour contacter l'auteur

Résumé

Background: Colorectal carcinoma (CRC) is the third most common cancer in the world and also the third leading cause of cancer-related mortality in Taiwan. CRC tumorigenesis is a multistep process, starting from mutations causing loss of function of tumor suppressor genes, canonically demonstrated in adenomatous polyposis coli pathogenesis. Although many genes or chromosomal alterations have been shown to be involved in this process, there are still unrecognized molecular events within CRC tumorigenesis. Elucidating these mechanisms may help improve the management and treatment. Methods: In this study, we aimed to identify copy number alteration of the smallest chromosomal regions that is significantly associated with sporadic CRC tumorigenesis using high-resolution array-based Comparative Genomic Hybridization (aCGH) and quantitative Polymerase chain reaction (qPCR). In addition, microsatellite instability assay and sequencing-based mutation assay were performed to illustrate the initiation event of CRC tumorigenesis. Results: A total of 571 CRC patients were recruited and 377 paired CRC tissues from sporadic CRC cases were used to define the smallest regions with chromosome copy number changes. In addition, 198 colorectal polyps from 160 patients were also used to study the role of 20q13.33 gain in CRC tumorigenesis. We found that gain in 20q13.33 is the main chromosomal abnormalities in this patient population and counts 50.9 and 62.8% in CRC and colon polyps, respectively. Furthermore, APC and KRAS gene mutations were profiled simultaneously and co-analyzed with microsatellite instability and 20q13.33 gain in CRC patients. Our study showed that the frequency of 20q13.33 copy number gain was highest among all reported CRC mutations.
Fichier principal
Vignette du fichier
Bui2020_Article_GenomicAmplificationOfChromoso.pdf (3.11 Mo) Télécharger le fichier
Origine : Publication financée par une institution

Dates et versions

hal-03078496 , version 1 (16-12-2020)

Identifiants

Citer

Vo-Minh-Hoang Bui, Clément Mettling, Jonathan Jou, H Sunny Sun. Genomic amplification of chromosome 20q13.33 is the early biomarker for the development of sporadic colorectal carcinoma. BMC Medical Genomics, 2020, 13, ⟨10.1186/s12920-020-00776-z⟩. ⟨hal-03078496⟩
25 Consultations
24 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More