Genetic Instability Markers in Cancer

Palmieri, Giuseppe; Casula, Milena; Manca, Antonella; Palomba, Grazia; Sini, Maria Cristina; Doneddu, Valentina; Cossu, Antonio; Colombino, Maria

doi:10.1007/978-1-4939-9773-2_6

Cited by 4 publications

(4 citation statements)

References 36 publications

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“…Although carcinogenesis begins with a genetic mutation, it should be remembered that a single mutation is not enough for a neoplastic transformation ( Figure 3 ). A pivotal factor in carcinogenesis is increasing genetic instability [ 52 , 53 , 54 , 55 ]. By genetic instability, we understand the variability in the severity of disturbances in DNA structure between generations of cells in a given population.…”

Section: Genetic Basis Of Nsclc Heterogeneitymentioning

confidence: 99%

“…Microsatellites are cyclic repeats of several base pairs in the non-coding regions of DNA. By detecting specific MSI phenotypes (depending on the intensity of variance in length and the mutation of microsatellite sections), we can assess the level of dysregulation of the DNA repair processes and, indirectly, the predisposition of cells to neoplastic activation [ 55 ]. Several areas of chromatin were located as markers of MSI severity specific to lung tissue cells (on chromosomes 2, 5, 8, 10, 11, and 17).…”

Section: Genetic Basis Of Nsclc Heterogeneitymentioning

confidence: 99%

See 1 more Smart Citation

Current Landscape of Non-Small Cell Lung Cancer: Epidemiology, Histological Classification, Targeted Therapies, and Immunotherapy

Rodak

Peris‐Díaz

Olbromski

et al. 2021

Cancers

124

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Non-small cell lung cancer (NSCLC) is a subtype of the most frequently diagnosed cancer in the world. Its epidemiology depends not only on tobacco exposition but also air quality. While the global trends in NSCLC incidence have started to decline, we can observe region-dependent differences related to the education and the economic level of the patients. Due to an increasing understanding of NSCLC biology, new diagnostic and therapeutic strategies have been developed, such as the reorganization of histopathological classification or tumor genotyping. Precision medicine is focused on the recognition of a genetic mutation in lung cancer cells called “driver mutation” to provide a variety of specific inhibitors of improperly functioning proteins. A rapidly growing group of approved drugs for targeted therapy in NSCLC currently allows the following mutated proteins to be treated: EGFR family (ERBB-1, ERBB-2), ALK, ROS1, MET, RET, NTRK, and RAF. Nevertheless, one of the most frequent NSCLC molecular sub-types remains without successful treatment: the K-Ras protein. In this review, we discuss the current NSCLC landscape treatment focusing on targeted therapy and immunotherapy, including first- and second-line monotherapies, immune checkpoint inhibitors with chemotherapy treatment, and approved predictive biomarkers.

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Section: Genetic Basis Of Nsclc Heterogeneitymentioning

confidence: 99%

Section: Genetic Basis Of Nsclc Heterogeneitymentioning

confidence: 99%

Current Landscape of Non-Small Cell Lung Cancer: Epidemiology, Histological Classification, Targeted Therapies, and Immunotherapy

Rodak

Peris‐Díaz

Olbromski

et al. 2021

Cancers

124

View full text Add to dashboard Cite

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“…The Idylla™ MSI test is able to detect mutations in seven tumor-specific MSI loci (ACVR2A, BTBD7, DIDO1, MRE11, RYR3, SEC31A, and SULF2), not requiring the analysis of paired normal tissue samples. For more extensive and detailed information about the methodologies aimed at investigating the MSI status, one can refer to the recent report from our group ( 106 , 107 ).…”

Section: Genetic Instabilitymentioning

confidence: 99%

Are Molecular Alterations Linked to Genetic Instability Worth to Be Included as Biomarkers for Directing or Excluding Melanoma Patients to Immunotherapy?

et al. 2021

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The improvement of the immunotherapeutic potential in most human cancers, including melanoma, requires the identification of increasingly detailed molecular features underlying the tumor immune responsiveness and acting as disease-associated biomarkers. In recent past years, the complexity of the immune landscape in cancer tissues is being steadily unveiled with a progressive better understanding of the plethora of actors playing in such a scenario, resulting in histopathology diversification, distinct molecular subtypes, and biological heterogeneity. Actually, it is widely recognized that the intracellular patterns of alterations in driver genes and loci may also concur to interfere with the homeostasis of the tumor microenvironment components, deeply affecting the immune response against the tumor. Among others, the different events linked to genetic instability—aneuploidy/somatic copy number alteration (SCNA) or microsatellite instability (MSI)—may exhibit opposite behaviors in terms of immune exclusion or responsiveness. In this review, we focused on both prevalence and impact of such different types of genetic instability in melanoma in order to evaluate whether their use as biomarkers in an integrated analysis of the molecular profile of such a malignancy may allow defining any potential predictive value for response/resistance to immunotherapy.

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“…When multiple unstable genomic loci are found, the tumour is characterized by high-frequency microsatellite instability (MSI), while those displaying only one unstable genomic locus are referred to as low-frequency MSI. Microsatellite stability is considered when none of the analysed loci exhibits instability [ 9 ]. Microsatellite instability (MSI) is a molecular fingerprint arising because of defective mismatch repair genes (MLH1, MSH2, PMS1, PMS2, MSH6, or MSH3).…”

Section: Introductionmentioning

confidence: 99%

Effect of Carcinomas on Autosomal Trait Screening: A Review Article

Alhatim,

Abdullah,

Abu Bakar

et al. 2023

CIMB

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This review highlights the effect of carcinomas on the results of the examination of autosomal genetic traits for identification and paternity tests when carcinoid tissue is the only source and no other samples are available. In DNA typing or genetic fingerprinting, variable elements are isolated and identified within the base pair sequences that form the DNA. The person’s probable identity can be determined by analysing nucleotide sequences in particular regions of DNA unique to everyone. Genetics plays an increasingly important role in the risk stratification and management of carcinoma patients. The available information from previous studies has indicated that in some incidents, including mass disasters and crimes such as terrorist incidents, biological evidence may not be available at the scene of the accident, except for some unknown human remains found in the form of undefined human tissues. If these tissues have cancerous tumours, it may affect the examination of the genetic traits derived from these samples, thereby resulting in a failure to identify the person. Pathology units, more often, verify the identity of the patients who were diagnosed with cancer in reference to their deceased tumorous relatives. Genetic fingerprinting (GF) is also used in paternity testing when the alleged parent disappeared or died and earlier was diagnosed and treated for cancer.

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Genetic Instability Markers in Cancer

Cited by 4 publications

References 36 publications

Current Landscape of Non-Small Cell Lung Cancer: Epidemiology, Histological Classification, Targeted Therapies, and Immunotherapy

Current Landscape of Non-Small Cell Lung Cancer: Epidemiology, Histological Classification, Targeted Therapies, and Immunotherapy

Are Molecular Alterations Linked to Genetic Instability Worth to Be Included as Biomarkers for Directing or Excluding Melanoma Patients to Immunotherapy?

Effect of Carcinomas on Autosomal Trait Screening: A Review Article

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