Special Issue "Genetics, Genomics, and Precision Medicine in Colorectal Cancer"

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Pharmacogenetics".

Deadline for manuscript submissions: 20 October 2023 | Viewed by 3894

Special Issue Editors

Department of Health Sciences, University of Florence, Florence, Italy
Interests: gastrointestinal cancers; tumor drug resistance; biomarkers; pharmacogenetics; pharmacogenomics; translational studies
Special Issues, Collections and Topics in MDPI journals
Department of Neurosciences, Imaging and Clinical Sciences, "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy
Interests: tumor drug resistance; pharmacological strategies to overcome drug resistance; biomarkers; pharmacogenetics; pharmacogenomics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Colorectal cancer (CRC) is one of the most common and lethal cancers worldwide, resulting both from germline pathogenic genetic variants and sequential acquisition and accumulation of somatic genomic alterations. These factors lead to the initiation of carcinomas from benign precursor lesions in the mucosa of the colon and rectum, as well as to progression and metastasis. Evidence demonstrates that analysis of these molecular determinants represents a valuable tool for a proper diagnosis and prognosis of CRC. Additionally, pharmacogenetics and pharmacogenomics are growing fields of research that link gene alterations to both toxic and therapeutic drug effects. Pharmacogenetics and pharmacogenomics affect the choice of therapeutic strategies, directing the selection of specific drugs and their dosing for CRC patients. The role of genetic and genomic determinants as diagnostic, prognostic, and therapeutic biomarkers, as well as targets of drug treatment, is robustly increasing year after year. These omic sciences, along with others, such as epigenomics, hold the promise of realizing precision medicine in the next future, moving further stratified care in clinical practice for this model disease. Approval in past years of anti-EGFR monoclonal antibodies, immune checkpoint inhibitors, and protein kinase inhibitors of oncogenic mutations, such as BRAFV600E, has improved the overall survival of CRC patients that, however, remains limited, especially in the metastatic setting. Thus, more advanced knowledge is needed to improve current clinical results. The aim of this Special Issue is to collect original research articles and reviews on genetics and genomics that might offer relevant insights in the prediction of CRC diagnosis, prognosis, and therapeutic outcome, leading to improvement of precision medicine in CRC.

Prof. Dr. Enrico Mini
Dr. Stefania Nobili
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • colorectal cancer
  • genetics
  • genomics
  • pharmacogenetics
  • pharmacogenomics
  • drug targets
  • predictive biomarkers
  • diagnosis
  • prognosis
  • drug toxicity
  • drug efficacy
  • precision medicine

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:


Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis, Prognosis and Therapy
J. Pers. Med. 2022, 12(3), 396; https://doi.org/10.3390/jpm12030396 - 04 Mar 2022
Cited by 4 | Viewed by 3439
Colorectal cancer (CRC) is the third most commonly diagnosed malignancy and has the second highest mortality rate globally. Thanks to the advent of next-generation sequencing technologies, several novel candidate genes have been proposed for CRC susceptibility. Germline biallelic mutations in one or more [...] Read more.
Colorectal cancer (CRC) is the third most commonly diagnosed malignancy and has the second highest mortality rate globally. Thanks to the advent of next-generation sequencing technologies, several novel candidate genes have been proposed for CRC susceptibility. Germline biallelic mutations in one or more of the 22 currently recognized Fanconi anemia (FA) genes have been associated with Fanconi anemia disease, while germline monoallelic mutations, somatic mutations, or the promoter hypermethylation of some FANC genes increases the risk of cancer development, including CRC. The FA pathway is a substantial part of the DNA damage response system that participates in the repair of DNA inter-strand crosslinks through homologous recombination (HR) and protects genome stability via replication fork stabilization, respectively. Recent studies revealed associations between FA gene/protein tumor expression levels (i.e., FANC genes) and CRC progression and drug resistance. Moreover, the FA pathway represents a potential target in the CRC treatment. In fact, FANC gene characteristics may contribute to chemosensitize tumor cells to DNA crosslinking agents such as oxaliplatin and cisplatin besides exploiting the synthetic lethal approach for selective targeting of tumor cells. Hence, this review summarizes the current knowledge on the function of the FA pathway in DNA repair and genomic integrity with a focus on the FANC genes as potential predisposition factors to CRC. We then introduce recent literature that highlights the importance of FANC genes in CRC as promising prognostic and predictive biomarkers for disease management and treatment. Finally, we represent a brief overview of the current knowledge around the FANC genes as synthetic lethal therapeutic targets for precision cancer medicine. Full article
(This article belongs to the Special Issue Genetics, Genomics, and Precision Medicine in Colorectal Cancer)
Show Figures

Graphical abstract

Back to TopTop