56. Whole-exome sequencing identifies somatic mutations penile squamous cell carcinoma

Aly Abdelkareem

Kelly Duarte

Kelly is a Ph.D. candidate in the Laboratory of Molecular Biology in Uro-Oncology at the University of São Paulo, Brazil. She graduated from the Federal University of Pará in 2017 in Biological Sciences. Before her Ph.D., Kelly completed a master’s degree in science from the University of São Paulo directed towards the standardization of cancer genetic panels, and she is a bioinformatics specialist applied to medical genomics from Hospital Israelita Albert Einstein. Kelly is interested in utilizing next-generation sequencing and bioinformatic analysis to understand the genomic landscape of urological cancer. Her current research involves bioinformatics analysis to explore data from computational genomics targeted for penile cancer.


Kelly Duarte, Kelly Gomes Duarte, Renato Mendes Rossi de Lucca, Claudia Tarcila Gomes Sares, Wilson Araújo da Silva Junior, Rodolfo Borges dos Reis

University of São Paulo, Ribeirão Preto, São Paulo, Brazil

Penile Cancer is a rare neoplasm in developed countries. Brazil is one of the countries with the highest disease incidence in Latin America. Understanding the molecular profile of the disease is essential for developing therapies and a better prognosis. In the literature, only a few studies have evaluated driver genes in the development of penile cancer through Whole-Exome Sequencing. Thus, the objective of the work is to make study the exome of Penile Squamous Cell Carcinoma (PSCC) and see what pathogenic mutations may be involved in the carcinogenesis process. Whole-exome sequencing was performed for tumor tissue DNA of 12 patients diagnosed with PSCC from 2011 to 2017 from the Clinical Hospital of the Ribeirão Preto Medical School, São Paulo, Brazil. Somatic SNVs and Indels were detected using the Genome Analysis Toolkit (GATK) Mutect2, and annotated with SnpEff e SnpSift. As a result, we found a very heterogeneous sample. Reported top-ranked mutations somatic after pathogenicity filters are PIK3CA, TP53, TMEM237, HPD, HRAS, FBN1, TTN, PKHD1, and BRCA1. We also found the presence of TP53 and BRCA1 genes important for cell mutation repair in patients with a worse prognosis. To explore the investigation of PSCC mutational profiling we will evaluate gene expression data from the Gene Expression Omnibus and Sequence Read Archive. These findings corroborate mutations identified in the literature and identified new potential drives genes. This study contributed to a genetic landscape for PSCC and may provide helpful information for further investigations.