Project

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#19873 : Profil mutationnel des carcinomes hépatocellulaires péruviens
Topics: Genomics (Illumina)
Origin: IP
Project type: Expertise

Name of Applicant: Pascal Pineau
Date of application: 18-06-2025
Unit: Nuclear Organization and Oncogenesis
Location: 22-3-307
Phone: 0145688824
@ Mail: pascal.pineau@pasteur.fr

Project context and summary:

In Peru, an unusual type of liver cancer affects children, adolescents, and young adults in half of the cases observed. These tumors exhibit a low frequency of genetic mutations (10.0%-25.0% of samples) at commonly altered targets (TP53, TERT, CTNNB1, and AXIN1) associated with hepatocellular carcinoma. We wonder whether unusual targets could be involved in the tumorigenic process. To confirm or refute this hypothesis and to better understand the tumor mechanisms at work in Peru, it is necessary to perform whole-exome sequencing on a significant series of tumor DNA and their non-tumorous counterparts.
This project could help to better understand the origin of early human cancers in general and those affecting understudied populations, such as indigenous Americans in particular.


Related team publications:
Marchio A, Cerapio JP, Early-onset liver cancer in South America associates with low hepatitis B virus DNA burden. Sci Rep. 2018 Aug 13;8(1):12031
Cerapio JP, Marchio A, Global DNA hypermethylation pattern and unique gene expression signature in liver cancer from patients with Indigenous American ancestry. Oncotarget. 2021 Mar 2;12(5):475-492
Service Delivery
Manager: marc.monot@pasteur.fr
Status: Libraries


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