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Title: The genomic profiling of penile carcinoma : differences and similarities of DNA copy number aberrations according to clinico-pathological variables and validation of candidate driver genes
Author: La-Touche, S.
ISNI:       0000 0004 7971 8401
Awarding Body: Queen Mary University of London
Current Institution: Queen Mary, University of London
Date of Award: 2019
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Penile squamous cell carcinoma is a rare disease, but can have a profound physical and psychological effect on those afflicted. Although rare in developed countries, it presents a significant problem in developing countries. The relatively recent developments in molecular genetics have given us the opportunity to explore various cancers using a variety of different techniques, but in comparison to other squamous cell carcinomas, relatively little is known about the molecular genetics of penile cancer. The aim was to determine the spectrum of gene copy number aberrations in a large series of PSCCs, define the correlation of any genetic aberrations with human papillomavirus, histopathological subtype, and tumour grade, stage and lymph node status, identify potential candidate driver genes and to validate them using fluorescence in situ hybridization and analyse validated potential driver genes, assessing clinicopathological correlation. Several potential candidate driver genes have been identified in this study and the high frequency of PI3CKA gain/amplifications validated with fluorescence in situ hybridisation suggests that patients with basaloid, high grade, high stage PSCCs would benefit from chemotherapeutic agents that manipulate the PI3CK/AKT/mTOR pathway. There remains a general paucity of studies in PSCC compared to other squamous cell carcinomas. However, the library of PSCC genetic data is expanding and our current study lays the foundation for clinical trials involving PI3K/AKT/mTOR chemotherapeutic agents in high-risk PSCC patients.
Supervisor: Not available Sponsor: Orchid (male cancer charity)
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available