Prostate cancer (PC) is one of the most common cancers worldwide. The observed variability in progression and responses to the same treatment between patients underlie the genetic heterogeneity of the disease. Nowadays, screening and follow-up biomarkers in PC are still having a deep lack of information, which makes difficult the cancer diagnosis, prognosis and the selection of the most suitable therapies. This is making that currently unnecessary biopsies, over-treatments and hormonoresistances have high rates of prevalence among patients. New biomarkers are urgently needed and in this sense genomic biomarkers could be the most suitable tools. These genetic markers will be helpful for improving the precision of prognostic and the predictive current tools which are employed in the clinical practice. A recent literature search up was conducted, including clinical trials and pre-clinical basic research studies. Keywords included germline variants, prostate cancer, biomarkers, androgen deprivation therapy, screening and liquid biopsy; among others. We have reviewed how germline variants, CNVs and repetitive regions are relevant to prostate carcinogenesis, treatment and progression. Moreover, we have also considered novel biomarkers for PC prognosis based on differentially expressed genes. Finally, we have included new strategies in recent markers of liquid biopsy or updated technologies for minimal samples analysis. The improvement of genetic markers use and their application to the clinical practice, will enhance the variability of simple, non-invasive, tools such as liquid biopsy and germline variants, these will reduce the number of PC needle biopsies and current over-treatments that are usual in the management of this cancer.
Mutation research. 2017 Nov 29 [Epub]
J M Cozar, I Robles-Fernandez, L J Martinez-Gonzalez, M Pascual-Geler, Alba Rodriguez-Martinez, M J Serrano, J A Lorente, M J Alvarez-Cubero
Urology Department, University Hospital Virgen de las Nieves, Av. de las Fuerzas Armadas 2, 18014 Granada, Spain. Electronic address: ., GENYO, Centre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government, Av. de la Ilustración 114, 18016 Granada, Spain. Electronic address: ., GENYO, Centre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government, Av. de la Ilustración 114, 18016 Granada, Spain. Electronic address: ., Urology Department, University Hospital Virgen de las Nieves, Av. de las Fuerzas Armadas 2, 18014 Granada, Spain. Electronic address: ., GENYO, Centre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government, Av. de la Ilustración 114, 18016 Granada, Spain; Laboratory of Genetic Identification, University of Granada - Dept. of Legal Medicine - Faculty of Medicine, University of Granada, Av. de la Investigación 11, 18016 Granada, Spain. Electronic address: ., GENYO, Centre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government, Av. de la Ilustración 114, 18016 Granada, Spain; Bio-Health Research Institute (Instituto de Investigación Biosanitaria IBS, GRANADA), Complejo Hospitalario Universitario Granada (CHUG), University of Granada, Department of Medical Oncology, Granada, Spain. Electronic address: ., GENYO, Centre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government, Av. de la Ilustración 114, 18016 Granada, Spain; Laboratory of Genetic Identification, University of Granada - Dept. of Legal Medicine - Faculty of Medicine, University of Granada, Av. de la Investigación 11, 18016 Granada, Spain. Electronic address: ., GENYO, Centre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government, Av. de la Ilustración 114, 18016 Granada, Spain; University of Granada. Dept. of Biochemistry & Molecular Biology III - Faculty of Medicine - PTS, 18016 Granada, Spain. Electronic address: .