Advances in Precision Medicine Approaches for Colorectal Cancer: From Molecular Profiling to Targeted Therapies

ACS Pharmacology & Translational Science, Journal Year: 2024, Volume and Issue: 7(4), P. 967 - 990

Published: March 19, 2024

Precision medicine is transforming colorectal cancer treatment through the integration of advanced technologies and biomarkers, enhancing personalized effective disease management. Identification key driver mutations molecular profiling have deepened our comprehension genetic alterations in cancer, facilitating targeted therapy immunotherapy selection. Biomarkers such as microsatellite instability (MSI) DNA mismatch repair deficiency (dMMR) guide decisions, opening avenues for immunotherapy. Emerging liquid biopsies, artificial intelligence, machine learning promise to revolutionize early detection, monitoring, selection precision medicine. Despite these advancements, ethical regulatory challenges, including equitable access data privacy, emphasize importance responsible implementation. The dynamic nature with its tumor heterogeneity clonal evolution, underscores necessity adaptive strategies. future lies potential enhance patient care, clinical outcomes, understanding this intricate disease, marked by ongoing evolution field. current reviews focus on providing in-depth knowledge various diverse approaches utilized against at both biochemical levels.

Language: Английский

---

Prognostic Biomarkers of Cell Proliferation in Colorectal Cancer (CRC): From Immunohistochemistry to Molecular Biology Techniques

Cancers, Journal Year: 2023, Volume and Issue: 15(18), P. 4570 - 4570

Published: Sept. 15, 2023

Colorectal cancer (CRC) is one of the most common and severe malignancies worldwide. Recent advances in diagnostic methods allow for more accurate identification detection several molecular biomarkers associated with this cancer. Nonetheless, non-invasive effective prognostic predictive testing CRC patients remains challenging. Classical genetic markers comprise mutations genes (e.g., APC, KRAS/BRAF, TGF-β, TP53). Furthermore, CIN MSI serve as chromosomal markers, while epigenetic include CIMP many other candidates such SERP, p14, p16, LINE-1, RASSF1A. The number proliferation-related long non-coding RNAs SNHG1, SNHG6, MALAT-1, CRNDE) microRNAs miR-20a, miR-21, miR-143, miR-145, miR-181a/b) that could potential has also steadily increased recent years. Among immunohistochemical (IHC) proliferative value regarding patients’ overall survival (OS) or disease-free (DFS) been confirmed thymidylate synthase (TS), cyclin B1, D1, proliferating cell nuclear antigen (PCNA), Ki-67. In cases, overexpression these tissues was related to worse OS DFS. However, slowly cells should be considered therapy (especially radiotherapy) they represent a reservoir from which are recruited replenish rapidly population response cell-damaging factors. Considering above, aim article review assessed using various including IHC selected biology techniques qRT-PCR, situ hybridization, RNA/DNA sequencing, next-generation sequencing) CRC.

Language: Английский

---

Comparative analysis of gut microbiota in children with obstructive sleep apnea: assessing the efficacy of 16S rRNA gene sequencing in metabolic function prediction based on weight status

Frontiers in Endocrinology, Journal Year: 2024, Volume and Issue: 15

Published: June 14, 2024

Background Analyzing bacterial microbiomes consistently using next-generation sequencing (NGS) is challenging due to the diversity of synthetic platforms for 16S rRNA genes and their analytical pipelines. This study compares efficacy full-length (V1–V9 hypervariable regions) partial-length (V3–V4 from human gut microbiomes, with a focus on childhood obesity. Methods In this observational comparative study, we explored differences between these two methods in taxonomic categorization weight status prediction among twelve children obstructive sleep apnea. Results The NGS method by Pacbio ® identified 118 genera 248 species V1–V9 regions, all 0% unclassified rate. contrast, Illumina detected 142 (with 39% rate) 6 99% V3–V4 regions. These approaches showed marked microbiome composition functional predictions. distinguished obese non-obese Firmicutes / Bacteroidetes ratio, known obesity marker ( p = 0.046), whereas was less conclusive 0.075). Additionally, out 73 metabolic pathways through sequencing, 35 (48%) were associated level 1 metabolism, compared 28 61 (46%) method. also highlighted complex associations body mass index z-score, three Bacteroides ovatus , Bifidobacterium pseudocatenulatum Streptococcus parasanguinis ATCC 15912), 17 pathways. Both techniques revealed relationships microbiota OSA-related parameters, offering more comprehensive insights into than technique. Conclusion findings highlight disparities NGS-based assessments, emphasizing value amplicon sequence variant analysis clinical research. They underscore importance considering methodological future meta-analyses.

Language: Английский

---

Advances in Molecular Mechanisms and Therapeutic Strategies in Colorectal Cancer: A New Era of Precision Medicine

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(1), P. 346 - 346

Published: Jan. 2, 2025

Colorectal cancer (CRC) is one of the leading causes cancer-related morbidity and mortality worldwide [...]

Language: Английский

---

Advancements and innovations in liquid biopsy through microfluidic technology for cancer diagnosis

The Analyst, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 1, 2025

Advancements and innovations in microfluidic technologies for cancer diagnosis. The integration of microfluidics with CRISPR gene editing, organ-on-a-chip models, 3D bioprinting, nanotechnology, AI

Language: Английский

---

A highly sensitive electrochemical magneto-genosensing assay for the specific detection of a single nucleotide variation in the KRAS oncogene in human plasma

Biosensors and Bioelectronics X, Journal Year: 2023, Volume and Issue: 15, P. 100404 - 100404

Published: Sept. 9, 2023

Liquid biopsy is a non-invasive and efficient technique for the detection of tumor biomarkers in biological fluids, which currently represents new frontier theranostics precision medicine. Among mutations KRAS oncogene, p.G12D single nucleotide variation gene plays central role early diagnosis therapeutic treatment colorectal cancer. In this context, we developed highly sensitive magneto-genosensing assay based on PNA capture probes immobilized magnetic microbeads. To detect mutation two probe sequences recognizing wild-type DNA were used association with signaling allowing electrochemical using an enzyme conjugate. The conditions optimized 32 full-factorial design, obtaining outstanding specificity, evidenced by remarkably lower (>95%) signal singly-mismatched- compared to that fully-complementary-DNA. Ultra-high sensitivity was achieved 10-fold diluted human plasma reaching limits 818 fM 1.8 pM targets. genosensing tested genomic samples provided IRCCS-Regina Elena National Cancer Institute finally integrated into smart portable multichannel potentiostat capable performing up four simultaneous acquisitions. demonstrated portability, simplicity, high sensitivity, showing good potential as theranostic tool personalized medicine oncology.

Language: Английский

---

In Silico Deciphering of the Potential Impact of Variants of Uncertain Significance in Hereditary Colorectal Cancer Syndromes

Cells, Journal Year: 2024, Volume and Issue: 13(16), P. 1314 - 1314

Published: Aug. 6, 2024

Colorectal cancer (CRC) ranks third in terms of incidence worldwide and is responsible for 8% all deaths globally. Approximately 10% CRC cases are caused by inherited pathogenic mutations driver genes involved pathways that crucial tumorigenesis progression. These hereditary significantly increase the risk initial benign polyps or adenomas developing into cancer. In recent years, rapid accurate sequencing CRC-specific multigene panels next-generation (NGS) technologies has enabled identification several recurrent variants with established functional consequences. parallel, rare genetic not characterized are, therefore, called uncertain significance (VUSs) have also been detected. The classification VUSs a challenging task because each amino acid specific biochemical properties uniquely contributes to structural stability activity proteins. this scenario, ability computationally predict effect VUS crucial. particular, silico prediction methods can provide useful insights assess potential impact support additional clinical evaluation. This approach further benefit from advances artificial intelligence-based technologies. review, we describe main tools be used evaluate examples their application analysis gene syndromes.

Language: Английский

---

Updates in BRAF V600E-Mutated Metastatic Colorectal Cancer

EMJ Oncology, Journal Year: 2024, Volume and Issue: unknown, P. 2 - 12

Published: March 19, 2024

Colorectal cancer (CRC) is the third most common worldwide, and second leading cause of death. Approximately one in five patients with CRC present metastatic disease at diagnosis. The BRAF V600E mutation occurs 8–12% colorectal (mCRC), characterised by an aggressive clinical course poor prognosis. This article based on a webinar discussion March 2024, between two experts gastrointestinal cancers, Chiara Cremolini, University Pisa, Italy; Julien Taieb, Georges Pompidou European Hospital, Université Paris-Cité, France, both whom have wealth experience expertise management CRC. described important recent advances treatment V600E-mutated mCRC, including data presented Society for Medical Oncology (ESMO) Congress October 2023, American Clinical (ASCO) Gastrointestinal (GI) Cancers Symposium January 2024. Cremolini Taieb gave valuable insights into topics such as nature how this impacts choice treatment, patient outcomes, quality life, well importance early testing monitoring. also discussed response outcomes microsatellite unstable (microsatellite instability [MSI]) versus stable (MSS) tumours, key trials mCRC. surgery multidisciplinary prognostic marker resected CRC, real-world studies field were explored. Finally, what future mCRC might look like, which advancements research they would like to see.

Language: Английский

---

Genomic Profiling - A Need for Clinical Decision? -Case Reports.

PubMed, Journal Year: 2024, Volume and Issue: 49(3), P. 467 - 473

Published: Feb. 5, 2024

Cancer is still an important health issue worldwide due to increased incidence and mortality. Personalized medicine the future of cancer treatment. Development in technology improved technical skills DNA/RNA sequencing. NGS solid-tumor samples can describe DNA or RNA analysis by including entire genome detect clinical relevant mutations. Genetic results may be considered having a dynamic impact because heterogenous molecular alterations depending time treatment influence. We conducted retrospective study all tests made last five years for patients from 'Sf. Nectarie' Oncology Center, Craiova, Romania. selected three cases where was performed changed perspective decision. Our aim evaluate importance approach. Although known development during decades, only few benefit advanced personalized treatments. It hard identify gene mutations genetic are not easily available small proportion carries alterations.

Language: Английский

---

Analysis of TP53, APC, KRAS, and MMR Genetic mutations in colorectal cancer: A review article

SANAMED, Journal Year: 2024, Volume and Issue: 00, P. 64 - 64

Published: Jan. 1, 2024

Introduction: Colorectal cancer (CRC) is one of the most common malignancies with significant global health and economic implications. Genetic mutations in genes such as TP53, APC, KRAS, MMR play a crucial role development progression this cancer. This review paper analyzes current knowledge about impact these on colorectal carcinogenesis, using available literature. Objective: To provide comprehensive genetic to consider their diagnosis treatment. Materials Methods: examines peer-reviewed research articles reports sourced from databases PubMed, Google Scholar, other academic sources. The focus was studies investigating mutations, prevalence, pathogenesis CRC. Results: Mutations TP53 gene, present more than 50% CRC cases, are critical for malignant cell transformations. KRAS found lead abnormal signaling contributing unchecked proliferation. APC associated hereditary predisposition CRC, while genes, MLH1 MSH2, key DNA repair linked nonpolyposis Conclusion: A deeper understanding may significantly enhance diagnostic therapeutic strategies, guiding future rapidly evolving field.

Language: Английский

---