The Polemic Diagnostic Role of TP53 Mutations in Liquid Biopsies from Breast, Colon and Lung Cancers
GENYO Centre for Genomics and Oncological Research, formed by Pfizer, the University of Granada and the Andalusian Regional Government, PTS Granada, Liquid Biopsy and Cancer Interception Group, Av. de la Ilustración, 114, 18016 Granada, Spain
Universidad Internacional de la Rioja, Avenida de la Paz, 137, 26006 Logroño, Spain
Departamento de Medicina, Facultad de Medicina, Universidad de Granada, 18016 Granada, Spain
Servicio de Cirugía General y del Aparato Digestivo, Hospital Clínico San Cecilio, 18016 Granada, Spain
Department of Thoracic Surgery, Virgen de las Nieves University Hospital, Av. de las Fuerzas Armadas, 2, 18014 Granada, Spain
Bio-Health Research Institute (Instituto de Investigación Biosanitaria ibs. GRANADA), Complejo Hospitalario Universitario Granada (CHUG), University of Granada, 18012 Granada, Spain
Laboratory of Genetic Identification, Department of Legal Medicine, University of Granada, Av. de la Investigación, 11, 18071 Granada, Spain
Department of Pathological Anatomy, Faculty of Medicine, Campus de Ciencias de la Salud, University of Granada, 18016 Granada, Spain
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Received: 6 October 2020
Revised: 2 November 2020
Accepted: 10 November 2020
Published: 12 November 2020
Most solid tumors share mutations in TP53 that is thus considered one of the main cancer driver genes. Mutations in TP53 occur very early during tumor development, so their identification helps in diagnosing cancer. Furthermore, knowing in advance the TP53 mutation status might help guiding targeted treatments against this gene. However, this analysis is mainly performed in tissue samples, that is, solid biopsies, being an invasive technique. Contrarily, liquid biopsies, consisting of the analysis of blood samples, are non-invasive, can be performed repeatedly, helping in monitoring the patient evolution, and might be useful in early stages when the tumor is not yet detected by other technologies. Here, we review the main studies conducted on two types of liquid biopsies: circulating tumor cells and cell-free DNA. We discuss the main findings regarding TP53 mutation analysis, the clinical utility of this information and some controversies arising from the study of liquid biopsies compared to tissue samples, and we finish by suggesting future directions within this field.