Project

genomics and transcriptomics of lung adenocarcinoma survival

Complex interactions between genetic variants and lung tissue transcription in the outcome of lung adenocarcinoma
Application Areas
Research Areas
Research Lines
Staff
WEBSITE

ITB Principal Investigator

Name

Complex interactions between genetic variants and lung tissue transcription in the outcome of lung adenocarcinoma

Acronym

genomics and transcriptomics of lung adenocarcinoma survival

Location

Segrate

Start Date

2018

End Date

2022

Funder

AIRC (to Dr. Dragani in Fondazione IRCCS Istituto Nazionale dei Tumori)

Partners

Fondazione IRCCS Istituto Nazionale dei Tumori, Milan (Italy); Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan (Italy); IRCCS Multimedica, Ospedale San Giuseppe, Milan (Italy); Thoraxklinik, University Hospital Heidelberg, Heidelberg (Germany)

This project addresses the prognostic variability in lung adenocarcinoma patients, which persists even at the same pathological stage and is not explained by tumor features. We hypothesize that host genetics influences cancer progression by modulating gene expression in surrounding healthy lung tissue. The goal is to identify germline polymorphisms and transcriptional signatures associated with stage and survival through the largest GWAS-eQTL study ever performed on this cancer type (~1,300 patients). Over 2 million SNPs and 540,000 transcripts will be analyzed, integrating genomic and transcriptomic data with statistical models and machine learning. Expected outcomes include easily measurable blood-based prognostic biomarkers and insights into regulatory mechanisms, with potential therapeutic implications and support for personalized follow-up.
  • Carapezza G, Minardi SP, Noci S, Pintarelli G, Zanutto S, Incarbone M, Tosi D, Dragani TA, Colombo F, Pierotti MA, Gariboldi M. Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes. Genes,Chromosome&Cancer,2025. https://doi.org/10.1002/gcc.70040Digital Object Identifier (DOI)
  • Minnai F, Noci S, Esposito M, Schneider MA, Kobinger S, Eichhorn M, Winter H, Hoffmann H, Kriegsmann M, Incarbone MA, Mattioni G, Tosi D, Muley T, Dragani TA, Colombo F. Germline Polymorphisms Associated with Overall Survival in Lung Adenocarcinoma: Genome-Wide Analysis. Cancers, 2024 https://doi.org/10.3390/cancers16193264.
  • Dragani TA, Muley T, Schneider MA, Kobinger S, Eichhorn M, Winter H, Hoffmann H, Kriegsmann M, Noci S, Incarbone M, Tosi D, Franzi S, Colombo F. Lung Adenocarcinoma Diagnosed at a Younger Age Is Associated with Advanced Stage, Female Sex, and Ever-Smoker Status, in Patients Treated with Lung Resection. Cancers, 2023 https://doi.org/10.3390/cancers15082395.
  • Minnai F, Noci S, Chierici M, Cotroneo CE, Bartolini B, Incarbone M, Tosi D, Mattioni G, Jurman G, Dragani TA, Colombo F. Genetic predisposition to lung adenocarcinoma outcome is a feature already present in patients’ noninvolved lung tissue. Cancer Science, 2022 https://doi.org/10.1111/cas.15591.