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Genetics, Genomics, and Precision Medicine in Colorectal Cancer
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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: closed (15 August 2024) | Viewed by 8838

Special Issue Editors

Prof. Dr. Enrico Mini

E-Mail Website
Guest Editor
Department of Health Sciences, Universita degli Studi di Firenze, Florence, Italy
Interests: gastrointestinal cancers; tumor drug resistance; biomarkers; pharmacogenetics; pharmacogenomics; translational studies
Special Issues, Collections and Topics in MDPI journals
Dr. Stefania Nobili

E-Mail Website
Guest Editor
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

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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.

Keywords

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

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Published Papers (3 papers)

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Research

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11 pages, 1514 KiB  
Article
Time to Deliver on Promises: The Role of ERBB2 Alterations as Treatment Options for Colorectal Cancer Patients in the Era of Precision Oncology
by Soeren M. Buchholz, Nelia Nause, Ute König, Johanna Reinecke, Benjamin Steuber, Christoph Ammer-Herrmenau, Kirsten Reuter-Jessen, Hanibal Bohnenberger, Lorenz Biggemann, Friederike Braulke, Albrecht Neesse, Volker Ellenrieder, Philipp Ströbel, Marius Adler and Alexander König
J. Pers. Med. 2023, 13(12), 1701; https://doi.org/10.3390/jpm13121701 - 12 Dec 2023
Cited by 1 | Viewed by 1559
Abstract
Receptor tyrosine kinase erythroblastic oncogene B2 (ERBB2), also known as human epidermal growth factor receptor 2 (HER2), represents an oncogenic driver and has been effectively targeted in breast and gastric cancer. Recently, next-generation sequencing (NGS) discovered ERBB2 as a [...] Read more.
Receptor tyrosine kinase erythroblastic oncogene B2 (ERBB2), also known as human epidermal growth factor receptor 2 (HER2), represents an oncogenic driver and has been effectively targeted in breast and gastric cancer. Recently, next-generation sequencing (NGS) discovered ERBB2 as a promising therapeutic target in metastatic colorectal cancer (mCRC), where it is altered in 3–5% of patients, but no therapies are currently approved for this use. Herein, we present the experience of a single center in diagnosing actionable genetic ERBB2 alterations using NGS and utilizing the latest therapeutic options. Between October 2019 and December 2022, a total of 107 patients with advanced CRC underwent molecular analysis, revealing actionable ERBB2 mutations in two patients and ERBB2 amplifications in two other patients. These findings correlated with immunohistochemical (IHC) staining. Of these four patients, two were treated with trastuzumab-deruxtecan (T-DXd). We present two exemplary cases of patients with actionable ERBB2 alterations to demonstrate the effectiveness of T-DXd in heavily pretreated ERBB2-positive mCRC patients and the need for early molecular profiling. To fully exploit the potential of this promising treatment, earlier molecular profiling and the initiation of targeted therapies are essential. Full article
(This article belongs to the Special Issue Genetics, Genomics, and Precision Medicine in Colorectal Cancer)
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Review

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26 pages, 1705 KiB  
Review
Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis, Prognosis and Therapy
by Fatemeh Ghorbani Parsa, Stefania Nobili, Mina Karimpour, Hamid Asadzadeh Aghdaei, Ehsan Nazemalhosseini-Mojarad and Enrico Mini
J. Pers. Med. 2022, 12(3), 396; https://doi.org/10.3390/jpm12030396 - 4 Mar 2022
Cited by 10 | Viewed by 4887
Abstract
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)
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Other

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8 pages, 1054 KiB  
Case Report
Genomic and Transcriptomic Analysis of a Patient with Early-Onset Colorectal Cancer and Therapy-Induced Focal Nodular Hyperplasia: A Case Report
by Mary O’Reilly, Aleksandar Krstic, Luis F. Iglesias-Martinez, Éanna J. Ryan, Bruce Moran, Des Winter, Kieran Sheahan, Ray McDermott and Walter Kolch
J. Pers. Med. 2024, 14(6), 639; https://doi.org/10.3390/jpm14060639 - 15 Jun 2024
Cited by 1 | Viewed by 1381
Abstract
Early-onset colorectal cancer (EOCRC), defined as colorectal cancer in individuals under 50 years of age, has shown an alarming increase in incidence worldwide. We report a case of a twenty-four-year-old female with a strong family history of colorectal cancer (CRC) but without an [...] Read more.
Early-onset colorectal cancer (EOCRC), defined as colorectal cancer in individuals under 50 years of age, has shown an alarming increase in incidence worldwide. We report a case of a twenty-four-year-old female with a strong family history of colorectal cancer (CRC) but without an identified underlying genetic predisposition syndrome. Two years after primary surgery and adjuvant chemotherapy, the patient developed new liver lesions. Extensive diagnostic imaging was conducted to investigate suspected liver metastases, ultimately leading to a diagnosis of focal nodular hyperplasia. The young age of the patient has prompted comprehensive genomic and transcriptomic profiling in order to identify potential oncogenic drivers and inform further clinical management of the patient. Besides a number of oncogenic mutations identified in the patient’s tumour sample, including KRAS G12D, TP53 R248W and TTN L28470V, we have also identified a homozygous deletion of 24.5 MB on chromosome 8. A multivariate Cox regression analysis of this patient’s mutation profile conferred a favourable prognosis when compared with the TCGA COADREAD database. Notably, the identified deletion on chromosome 8 includes the WRN gene, which could contribute to the patient’s overall positive response to chemotherapy. The complex clinical presentation, including the need for emergency surgery, early age at diagnosis, strong family history, and unexpected findings on surveillance imaging, necessitated a multidisciplinary approach involving medical, radiation, and surgical oncologists, along with psychological support and reproductive medicine specialists. Molecular profiling of the tumour strongly indicates that patients with complex mutational profile and rare genomic rearrangements require a prolonged surveillance and personalised informed interventions. Full article
(This article belongs to the Special Issue Genetics, Genomics, and Precision Medicine in Colorectal Cancer)
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