Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

Skin cancer (SC) represent the most common malignancy worldwide. SC is a complex disease influenced by both external environment and inherent genetics [1]. In Tunisia, SC is relatively frequent, sun exposure constitutes the major factor [2] Hereditary genodermatosis with cancer predisposition are suspected, if there is a family history of SC. Among them, chromosomal breakage diseases characterized by defects in DNA repair pathways or by genomic instability that predispose, also, to internal cancer.