Predictive “omic” biomarkers of drug response: Colorectal cancer as a model

Mini, Enrico; Landini, Ida; Paolo, Antonello Di; Ravegnini, Gloria; Saponara, Simona; Frosini, Maria; Lapucci, Andrea; Nobili, Stefania

doi:10.1016/b978-0-323-90190-1.00002-0

Cited by 3 publications

(3 citation statements)

References 256 publications

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“…Thus, the evaluation of MMR/MSI has become part of the standard diagnostic and therapeutic course in CRC. Therefore, the major oncological international societies recommend the use of immune checkpoint inhibitors in the treatment of metastatic CRC either as first-line treatment or as subsequent therapy after the front-line treatment [ 3 , 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis, Prognosis and Therapy

Parsa

Nobili

Karimpour

et al. 2022

JPM

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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.

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Section: Introductionmentioning

confidence: 99%

Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis, Prognosis and Therapy

Parsa

Nobili

Karimpour

et al. 2022

JPM

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“…In detail, patients with stage I and low-risk stage II are candidates for surgery alone while pharmacological therapy plus surgery is the treatment strategy for patients with high-risk stage II, stage III, and stage IV (oligometastatic disease). However, despite the curative treatments, almost 30% of early stage CRC patients will develop a recurrence of the disease [ 7 ].…”

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confidence: 99%

Clinical Updates for Gastrointestinal Malignancies

Laface,

Memeo

2023

JPM

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“…This occurrence stimulates the search for biomarkers able to predict colorectal cancer prognosis in order to plan preventative pharmacological strategies for patients at high risk of disease progression as well as biomarkers predictive of drug response, in order to avoid the administration of inactive drugs to resistant patients. Immunoscore is a further example of tumor biomarker able to predict disease prognosis in early-stage colorectal cancer [ 19 ]. Instead, tumor mutational burden is not yet a recommended biomarker for the prediction of pembrolizumab efficacy in colorectal cancer due to the limited data available in this patient population [ 17 ].…”

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confidence: 99%