Oral Cavity Squamous Cell Carcinoma
Associated Genetic Biomarkers
NCI Definition: A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status. 
Oral cavity squamous cell carcinomas most frequently harbor alterations in TP53, CDKN2A, NOTCH1, PIK3CA, and KMT2D .
TP53 Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, CDKN2A Mutation, and PIK3CA Mutation are the most common alterations in oral cavity squamous cell carcinoma .
Significant Genes in Oral Cavity Squamous Cell Carcinoma
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.