Association of Inherited Copy Number Variation in and Pseudogenes with Oropharynx Cancer Risk and Outcome.

Inherited copy number variations (CNVs) can provide valuable information for cancer susceptibility and prognosis. However, their association with oropharynx squamous cell carcinoma (OPSCC) is still poorly studied. Using microarrays analysis, we identified three inherited CNVs associated with OPSCC risk, of which one was validated in 152 OPSCC patients and 155 controls and related to pseudogene-microRNA-mRNA interaction. Individuals with three or more copies of and pseudogenes (8p11.22 chromosome region) were under 6.49-fold increased risk of OPSCC. shared a highly homologous sequence with the 3'-UTR, predicted to be a binding site for miR-122b-5p. Individuals carrying more than three copies of and presented higher expression levels. Moreover, patients with total deletion or one copy of pseudogenes and with higher expression of miR-122b-5p presented worse prognoses. Our data suggest, for the first time, that and pseudogene-inherited CNV could modulate OPSCC occurrence and prognosis, possibly through the interaction of pseudogene transcript, miR-122b-5p, and .