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The Human Cancer Situation
Published in Samuel C. Morris, Cancer Risk Assessment, 2020
The effects of a genetically induced disease depend not only on the original mutation, but on the interaction among the resulting offspring, the other members of the population, and the environment at large. The same will be seen to be true in the case of somatic mutations.
Noonan Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Besides the above-mentioned genes, several other genes (e.g., SOS2, RASA2, RRAS, SYNGAP1, A2ML1, LZTR1, MYST4, SPRY1, MAP3K8) have been recently implicated in the development of Noonan syndrome. It should be noted that while germline mutations in these genes are responsible for Noonan syndrome and its phenotypic variants, somatic nucleotide variants in PTPN11, KRAS, NRAS, BRAF, or MAP2K1 are sometimes detected in sporadic tumors (including leukemia and solid tumors) that tend to occur as single tumors without any other findings of Noonan syndrome. In the latter cases, predisposition to these tumors is not heritable. Furthermore, these somatic mutations appear to be more strongly activating than germline counterparts, as activating oncogenic mutations are not tolerated in the germline or in early development.
Radiation-Induced Cancer
Published in K. H. Chadwick, Understanding Radiation Biology, 2019
The important role of somatic mutations in stem cells in the development of cancer is no longer in doubt (Stratton et al. 2009; Cancer Genome Atlas Research Network 2017a,b; Scarpa et al. 2017) and the multi-stage nature of cancer has long been discussed ((Armitage and Doll 1954; Burch 1960). Recent studies of childhood cancers (Grobner et al. 2018; Ma et al. 2018; Bandopadhayay and Meyerson 2018) have indicated the role of germ-line mutations. It appears, therefore, that cancer arises as an accumulation of somatic mutations.
Triple-negative breast cancer: promising prognostic biomarkers currently in development
Published in Expert Review of Anticancer Therapy, 2021
Jasmine Sukumar, Kelly Gast, Dionisia Quiroga, Maryam Lustberg, Nicole Williams
Given the heterogeneity of TNBC, it is very unlikely that there can be a single approach to the management of these tumors, and evaluating the heterogeneity of TNBC is of particular importance to identify patients who may benefit from targeted therapy. One way to evaluate and define this heterogeneity is to identify somatic mutations by sequencing tumor DNA. Next-generation sequencing (NGS) is a commonly used method to sequence a panel of oncogenes and evaluate for actionable mutations. NGS may have implications for patient classification, prognosis, treatment, and evaluation of drug resistance. NGS can be performed on tumor tissue or ctDNA from blood samples. Studies have shown high concordance rates between mutations detected in solid tumor tissue biopsies and those detected in ctDNA [122]. There are several different NGS platforms commercially available including FoundationOne, MSK-IMPACT, Guadant360, and Caris Molecular Intelligence Tumor Profiling. These NGS tests vary in both the specific genes tested as well as the overall number of genes. A recent study found that the use of next-generation sequencing in metastatic BC patients frequently identified potential treatment options [123]. A recent study on patient perspectives of genomic testing in patients with metastatic BC found patients had limited genomic knowledge and highlights the importance of patient education as the use of these tests becomes more prevalent [124].
Regulatory perspectives on next-generation sequencing and complementary diagnostics in Japan
Published in Expert Review of Molecular Diagnostics, 2020
Rumiko Shimazawa, Masayuki Ikeda
The number of somatic mutations in cancers differs among cell types and their tumor types. Likewise, the roles played in tumorigenesis differ among driver mutations. Cancer cell heterogeneity is recognized not only between, but also within a tumor. Furthermore, both epigenetic and micro-environmental factors also affect the heterogeneity [65–67]. As we better understand the process of somatic mutation in cancer and move away from the one biomarker/one drug scenario, we must also ensure that diagnostic tools be applied to test for multiple biomarkers, thus reflecting the heterogeneity and complexity of the specific cancer. In such circumstances, NGS can help to confirm a diagnosis and evaluate prognostic predictions in patients with mainly solid tumors for whom no standard treatment has been established.
Mutational landscape of immune surveillance genes in diffuse large B-cell lymphoma
Published in Expert Review of Hematology, 2020
Marijana Nesic, Tarec Christoffer El-Galaly, Martin Bøgsted, Inge Søkilde Pedersen, Karen Dybkær
Finally, among the studies included in this review, recurrently mutated genes related to immune surveillance and specific mutations in these genes are highly overlapping. The mapped somatic mutations are located in the coding sequence mostly in conserved regions of the gene with nonsense or missense mutations implying gene inactivation and loss of protein/protein function. This overlap supports using custom or commercial panel sequencing of candidate genes and mutations for impaired immune surveillance. Further research on these somatic mutations using methods with higher sensitivity, and on a larger cohort of patients, can contribute to shifting toward more patient-tailored treatments. However, although these mutations are predicted to be highly damaging, the diagnostic and prognostic relevance of these mutations requires further evaluation in clinical trials.