Clinical Research Directory

Phenotypes Associated With Constitutional EGFR Pathogenic Variants

A small proportion of lung cancers are hereditary, i.e. caused by a constitutional pathogenic variant (PV). EGFR " Epidermal Growth Factor Receptor " is a major cancer predisposing gene, mainly via the T790M variant. The study aims to collect French national data on EGFR pathogenic variant carriers (affected and unaffected), in order to better characterise the associated phenotypes. A retrospective, multicenter cohort study will be carried out. The study aims to include 20 to 25 patients identified as EGFR pathogenic variant carriers between 2018 and 2024. Data will be gathered from either paper or electronic patient files from the Oncogenetics clinics or laboratory. Eligible patients will be informed and given a possibility to opt out. Of note, all previously signed a consent form for genetic testing. Each participating centre will be responsible for transcribing the pseudonymised data from its patients' medical records into a secure Excel file unique to each centre. The anonymized data obtained from the patient files will be electronically stored in a secure document accessible only to the principal investigator and a maximum of two close collaborators involved in the study. Data will be sent by participating centres to investigators from the Medical Genetics Department at APHP Sorbonne via the secure national RENATER platform for analysis. A Simple description of the cohort, e.g. mean/median age, proportion and type of somatic changes, prevalence of smoking will be done.