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Artículos de revistas sobre el tema "Les Mutations"

Autor: Grafiati

Publicado: 14 de diciembre de 2024

Última modificación: 31 de julio de 2025

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1

Hyodo, Toshiki, Nobuyuki Kuribayashi, Chonji Fukumoto, et al. "Abstract 4649: Proposal of the concept of “p53 mutational spectrum”: Its clinical implication in oral squamous cell carcinoma." Cancer Research 85, no. 8_Supplement_1 (2025): 4649. https://doi.org/10.1158/1538-7445.am2025-4649.

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Abstract The p53 gene is the most frequently mutated gene in malignant tumors. We found that p53 abnormalities were observed in most cases of oral squamous cell carcinoma (OSCC). Therefore, it is necessary to search for type of the functional abnormality (complete loss of function, partial loss of function, or gain of oncogenic function) of the p53 gene rather than the presence or absence of gene mutation. Here we would like to propose the concept “p53 mutational spectrum”. In this study we performed whole-exome sequencing of p53 using clinical specimens from OSCC and attempted to clarify the

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Tarlock, Katherine, Todd M. Cooper, Todd A. Alonzo, et al. "Mutational Concordance from Diagnosis and Relapse in Pediatric Acute Myeloid Leukemia: A Report from the Children's Oncology Group." Blood 128, no. 22 (2016): 2846. http://dx.doi.org/10.1182/blood.v128.22.2846.2846.

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Abstract The range of genomic drivers of leukemogenesis and clonal nature of the disease illustrate the heterogeneity of the mutational spectrum in AML. Genomic interrogation of the evolution of AML has begun to highlight the scope of somatic changes that occur between diagnosis and relapse. A total of 1,214 patients were treated on the Children's Oncology Group trials AAML03P1 and AAML0531, of which 398 had relapse after initial remission. Of this cohort, 201 patients had matching diagnostic and relapse specimens for molecular profiling for the most common somatic mutations in pediatric AML (

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GARCÍA-DORADO, A., C. LÓPEZ-FANJUL, and A. CABALLERO. "Properties of spontaneous mutations affecting quantitative traits." Genetical Research 74, no. 3 (1999): 341–50. http://dx.doi.org/10.1017/s0016672399004206.

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Recent mutation accumulation results from invertebrate species suggest that mild deleterious mutation is far less frequent than previously thought, implying smaller expressed mutational loads. Although the rate (λ) and effect (s) of very slight deleterious mutation remain unknown, most mutational fitness decline would come from moderately deleterious mutation (s ≈ 0·2, λ ≈ 0·03), and this situation would not qualitatively change in harsh environments. Estimates of the average coefficient of dominance (h¯) of non-severe deleterious mutations are controversial. The typical value of h¯ = 0·4 can

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Watters, M. K., and D. R. Stadler. "Spontaneous mutation during the sexual cycle of Neurospora crassa." Genetics 139, no. 1 (1995): 137–45. http://dx.doi.org/10.1093/genetics/139.1.137.

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Abstract The DNA sequences of 42 spontaneous mutations of the mtr gene in Neurospora crassa have been determined. The mutants were selected among sexual spores to represent mutations arising in the sexual cycle. Three sexual-cycle-specific mutational classes are described: hotspot mutants, spontaneous repeat-induced point mutation (RIPs) and mutations occurring during a mutagenic phase of the sexual cycle. Together, these three sexual-cycle-specific mutational classes account for 50% of the mutations in the sexual-cycle mutational spectrum. One third of all mutations occurred at one of two mut

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Pawlik, Timothy M., Darrell R. Borger, Yuhree Kim, et al. "Genomic profiling of intrahepatic cholangiocarcinoma: Refining prognostic determinants and identifying therapeutic targets." Journal of Clinical Oncology 32, no. 3_suppl (2014): 210. http://dx.doi.org/10.1200/jco.2014.32.3_suppl.210.

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210 Background: The molecular alterations that drive tumorigenesis in intrahepatic cholangiocarcinoma (ICC) remain poorly defined. We sought to define the incidence and prognostic significance of mutations associated with ICC among patients undergoing surgical resection. Methods: 138 patients who underwent resection at 6 centers in the United States and Europe were included in the cohort. Mutational profiling was performed using nucleic acids that were extracted from resected ICC tumor specimens; mutations were identified using a multiplexed mutational profiling platform. The frequency of muta

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6

Kang, S., S. S. Seo, H. J. Chang, C. W. Yoo, S. Y. Park, and S. M. Dong. "Mutual exclusiveness between PIK3CA and KRAS mutations in endometrial carcinoma." International Journal of Gynecologic Cancer 18, no. 6 (2008): 1339–43. http://dx.doi.org/10.1111/j.1525-1438.2007.01172.x.

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In endometrial carcinomas (ECs), previous report suggested that PIK3CA mutations do not coexist with KRAS mutations, but the significant mutual exclusiveness has not been demonstrated. In this study, we examined the mutation frequency of PIK3CA in EC and its mutual exclusiveness with KRAS mutation. We performed mutational analysis of PIK3CA through a polymerase chain reaction single-strand conformation polymorphism assay in 44 cases of endometrial cancer and analyzed the correlation with loss of PTEN, KRAS mutation, and RASSF1A hypermethylation. Somatic mutations of PIK3CA were detected in 14

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7

Chao, Mwe, Kathrin Thomay, Gudrun Goehring, et al. "Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms." Klinische Pädiatrie 229, no. 06 (2017): 329–34. http://dx.doi.org/10.1055/s-0043-117046.

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AbstractIndividuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next-generation sequencing myeloid neoplasia gene panel to determine the mutational spectrum of FA-related MDS/AML. Ten of 16 patients showed missense, nonsense, insertion or duplication mutations in 13 genes. In contrast to findings in MDS in the general population, mutations in genes involved in RNA splicing were rarely affected. Mutations in

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8

Ellis, Nathan A. "Mutation-causing mutations." Nature 381, no. 6578 (1996): 110–11. http://dx.doi.org/10.1038/381110a0.

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Pálinkás, Hajnalka Laura, Lőrinc Pongor, Máté Balajti, et al. "Primary Founder Mutations in the PRKDC Gene Increase Tumor Mutation Load in Colorectal Cancer." International Journal of Molecular Sciences 23, no. 2 (2022): 633. http://dx.doi.org/10.3390/ijms23020633.

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The clonal composition of a malignant tumor strongly depends on cellular dynamics influenced by the asynchronized loss of DNA repair mechanisms. Here, our aim was to identify founder mutations leading to subsequent boosts in mutation load. The overall mutation burden in 591 colorectal cancer tumors was analyzed, including the mutation status of DNA-repair genes. The number of mutations was first determined across all patients and the proportion of genes having mutation in each percentile was ranked. Early mutations in DNA repair genes preceding a mutational expansion were designated as founder

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10

Ahn, TaeJin, and Taesung Park. "Pathway-Driven Discovery of Rare Mutational Impact on Cancer." BioMed Research International 2014 (2014): 1–10. http://dx.doi.org/10.1155/2014/171892.

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Identifying driver mutation is important in understanding disease mechanism and future application of custom tailored therapeutic decision. Functional analysis of mutational impact usually focuses on the gene expression level of the mutated gene itself. However, complex regulatory network may cause differential gene expression among functional neighbors of the mutated gene. We suggest a new approach for discovering rare mutations that have real impact in the context of pathway; the philosophy of our method is iteratively combining rare mutations until no more mutations can be added under the c

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11

Hughes, Timothy, Giuseppe Saglio, Giovanni Martinelli, et al. "Responses and Disease Progression in CML-CP Patients Treated with Nilotinib after Imatinib Failure Appear To Be Affected by the BCR-ABL Mutation Status and Types." Blood 110, no. 11 (2007): 320. http://dx.doi.org/10.1182/blood.v110.11.320.320.

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Abstract Nilotinib is a rationally designed 2nd-generation bcr-abl inhibitor. It is ∼30-fold more potent than imatinib against wild-type bcr-abl and active against 32/33 imatinib-resistant bcr-abl mutants in preclinical models. In an open-label phase II study of nilotinib in imatinib-resistant or -intolerant CML-CP patients (pts), we assessed the occurrence of mutations and the efficacy stratified by BCR-ABL mutational status. Prior to therapy, 35 mutations affecting 28 amino acids in the BCR-ABL kinase domain were identified by direct sequencing in 39% (106/270) of the pts analyzed. The incid

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Sane, Mrudula, Shazia Parveen, and Deepa Agashe. "Mutation bias alters the distribution of fitness effects of mutations." PLOS Biology 23, no. 7 (2025): e3003282. https://doi.org/10.1371/journal.pbio.3003282.

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Mutation bias is an important factor determining the diversity of genetic variants available for selection. As adaptation proceeds and some beneficial mutations are fixed, new beneficial mutations become rare, limiting further adaptation. The depletion of beneficial mutations is especially stark within the mutational class favored by the existing mutation bias. Recent theoretical work predicts that this problem may be alleviated by a change in the direction of mutation bias (i.e., a bias reversal). If populations sample previously underexplored types of mutations, the distribution of fitness e

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13

Bose, Chirantan, Karishma Todi, Ashish Joshi, et al. "Abstract LB287: Mutational profile of ‘therapy-naïve’ non small cell lung cancers (NSCLC) in western Indian population reveals an alarming preponderance of ‘resistance-causing’ genomic alterations necessitating deeper questioning of prevalent ‘standard-or-care’ approaches." Cancer Research 85, no. 8_Supplement_2 (2025): LB287. https://doi.org/10.1158/1538-7445.am2025-lb287.

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Abstract Most private cancer hospitals in India have moving population of patients who may not pursue treatment-lifecycles at the same institution and may migrate from one centre to another for logistic reasons. From a retrospective dataset of 2 years, we identified a subset of 242 treatment-naïve patients of NSCLC who presented at our centre and continued medical oncology care at our hospital/s till present day or till death. Of these therapy-naïve patients, a remarkable 58% (140) revealed the presence of ‘therapeutically resistant’ mutational patterns at baseline, wherein, approved first-lin

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14

Robinson, Philip S., Tim H. H. Coorens, Claire Palles, et al. "Increased somatic mutation burdens in normal human cells due to defective DNA polymerases." Nature Genetics 53, no. 10 (2021): 1434–42. http://dx.doi.org/10.1038/s41588-021-00930-y.

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AbstractMutation accumulation in somatic cells contributes to cancer development and is proposed as a cause of aging. DNA polymerases Pol ε and Pol δ replicate DNA during cell division. However, in some cancers, defective proofreading due to acquired POLE/POLD1 exonuclease domain mutations causes markedly elevated somatic mutation burdens with distinctive mutational signatures. Germline POLE/POLD1 mutations cause familial cancer predisposition. Here, we sequenced normal tissue and tumor DNA from individuals with germline POLE/POLD1 mutations. Increased mutation burdens with characteristic muta

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Machado, Heather E., Nina Friesgaard Øbro, Emily Mitchell, et al. "Life History of Normal Human Lymphocytes Revealed By Somatic Mutations." Blood 134, Supplement_1 (2019): 1045. http://dx.doi.org/10.1182/blood-2019-128188.

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Introduction: Mature blood cells harbor a mixture of mutations inherited from ancestral hematopoietic stem cells (HSCs) and mutations accumulated after maturation. The landscape of these somatic mutations in normal blood is poorly mapped, with questions as simple as "how many mutations does a memory T cell accumulate throughout life?" remaining unanswered. This gap in our knowledge is particularly relevant for hematopoietic malignancy- while we know that lymphomas derive from lymphocytes of particular stages of differentiation, we do not know if the patterns we see are reflected in their norma

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16

Ahn, Jae-Sook, Hyeoung-Joon Kim, Yeo-Kyeoung Kim, et al. "An Adverse Prognostic Effect of Homozygous TET2 Mutational Status on the Relapse Risk of Acute Myeloid Leukemia Patients of Normal Karyotype." Blood 124, no. 21 (2014): 1052. http://dx.doi.org/10.1182/blood.v124.21.1052.1052.

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Abstract Purpose Ten-eleven-translocation oncogene family member 2 (TET2) mutations play leukemogenic roles in patients with acute myeloid leukemia (AML). However, the prognostic significance of such mutations in normal-karyotype (NK) AML patients remains controversial, especially that of homozygous TET2 mutations. n the present study, we attempted 1) to evaluate the prevalence of TET2 mutations in NK-AML patients; 2) to clarify the prognostic role played by TET2 mutation, especially homozygous mutation, in NK-AML patients; and, 3) to analyze associations among TET2 mutations and other mutatio

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17

Kustova, D. V., E. V. Motyko, A. N. Kirienko, et al. "Retrospective analysis of own long-term experience in studying the BCR::ABL kinase domain mutational status in patients with chronic myeloid leukemia." Oncohematology 19, no. 3 (2024): 45–60. http://dx.doi.org/10.17650/1818-8346-2024-19-3-45-60.

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Background. Most patients with chronic myeloid leukemia (CML) treated with tyrosine kinase inhibitors achieve durable optimal responses. Loss of the achieved molecular response is observed in 15–30 % of patients. Mutations in the BCR::ABL kinase domain are one of the most common mechanisms for the development of resistance to tyrosine kinase inhibitors.Aim. To conduct a retrospective analysis of the BCR::ABL kinase domain mutational profile in patients with CML observed at the Russian Research Institute of Hematology and Transfusiology from 2012 to 2023. To assess the impact of mutations type

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Wayne, Marta L., and Trudy F. C. Mackay. "Quantitative Genetics of Ovariole Number in Drosophila melanogaster. II. Mutational Variation and Genotype-Environment Interaction." Genetics 148, no. 1 (1998): 201–10. http://dx.doi.org/10.1093/genetics/148.1.201.

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Abstract The rare alleles model of mutation-selection balance (MSB) hypothesis for the maintenance of genetic variation was evaluated for two quantitative traits, ovariole number and body size. Mutational variances (VM) for these traits, estimated from mutation accumulation lines, were 4.75 and 1.97 × 10−4 times the environmental variance (VE), respectively. The mutation accumulation lines were studied in three environments to test for genotype × environment interaction (GEI) of new mutations; significant mutational GEI was found for both traits. Mutations for ovariole number have a quadratic

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Golding, G. Brian, Patricia J. Gearhart, and Barry W. Glickman. "Patterns of Somatic Mutations in Immunoglobulin Variable Genes." Genetics 115, no. 1 (1987): 169–76. http://dx.doi.org/10.1093/genetics/115.1.169.

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ABSTRACT The mechanism responsible for somatic mutation in the variable genes of antibodies is unknown and may differ from previously described mechanisms that produce mutation in DNA. We have analyzed 421 somatic mutations from the rearranged immunoglobulin variable genes of mice to determine (1) if the nucleotide substitutions differ from those generated during meiosis and (2) if the presence of nearby direct and inverted repeated sequences could template mutations around the variable gene. The results reveal a difference in the pattern of substitutions obtained from somatic mutations vs. me

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20

Jeffers, Michael, Christian Kappeler, Iris Kuss, et al. "Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial." Gastric Cancer 25, no. 3 (2022): 598–608. http://dx.doi.org/10.1007/s10120-021-01274-6.

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Abstract Background In the phase 3 GRID trial, regorafenib improved progression-free survival (PFS) independent of KIT mutations in exons 9 and 11. In this retrospective, exploratory analysis of the GRID trial, we investigated whether a more comprehensive KIT mutation analysis could identify mutations that impact treatment outcome with regorafenib and a regorafenib-induced mutation pattern. Methods Archived tumor samples, collected at any time prior to enrollment in GRID, were analyzed by Sanger sequencing (n = 102) and next-generation sequencing (FoundationONE; n = 47). Plasma samples collect

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Shang, Yanhong, Hao Zhang, Aiming Zang, et al. "Abstract 5754: The molecular characteristics of EGFR co-mutations in lung adenocarcinoma." Cancer Research 82, no. 12_Supplement (2022): 5754. http://dx.doi.org/10.1158/1538-7445.am2022-5754.

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Abstract Background: With the development of sensitive next-generation sequencing (NGS) techniques that go beyond the genotyping of specific mutations, detection rates for uncommon mutations have risen clinically. Given this rise in mutation identification, discoveries regarding isolation or coexistent mutations with the EGFR mutation (termed a “complex” mutation) are in “uncharted territory” in terms of their biological impacts on oncogenic pathways and their sensitivity or resistance, to EGFR TKIs. Methods: Targeted NGS for 450 genes was performed in OrigiMed (Shanghai, China), a College of

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Xu, Fan, Qingshan Li, Wenxin LI, et al. "Molecular characteristics of ERBB2-activating mutations in Chinese patients with NSCLC." Journal of Clinical Oncology 40, no. 16_suppl (2022): 8546. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.8546.

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8546 Background: Activating mutations in the ERBB2 gene were shown to play an oncogenic role similar to that of ERBB2 amplification. Thus, ERBB2 mutations have emerged as therapeutic targets in non-small cell lung cancers (NSCLC). However, Activating ERBB2 mutations have not been described in detail like other driver gene mutations, such as epidermal growth factor receptor (EGFR)-activating mutations. Methods: In this study, we retrospectively analyzed activating ERBB2 mutations using next-generation sequencing(NGS). From May 2019 to January 2022, 21745 patients who were diagnosed with NSCLC w

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Wang, Yan, Fei Ran, Jin Lin, Jing Zhang, and Dan Ma. "Genetic and Clinical Characteristics of Patients with Philadelphia-Negative Myeloproliferative Neoplasm Carrying Concurrent Mutations in JAK2V617F, CALR, and MPL." Technology in Cancer Research & Treatment 22 (January 2023): 153303382311540. http://dx.doi.org/10.1177/15330338231154092.

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Simultaneous mutations in Janus kinase 2 ( JAK2), calreticulin , and myeloproliferative leukemia (MPL) genes are generally not considered for characterizing Philadelphia-negative myeloproliferative neoplasms (MPNs), leading to misdiagnosis. Sanger sequencing and quantitative polymerase chain reaction were used to detect gene mutations in patients with MPN. We retrospectively screened the data of patients with double mutations in our center and from the PubMed database. Two patients tested positive for both JAK2V617F and CALR mutations (2/352 0.57%) in our center, while data of 35 patients from

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Kapoor, Ritika R., Sarah E. Flanagan, Piers Fulton, et al. "Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations." European Journal of Endocrinology 161, no. 5 (2009): 731–35. http://dx.doi.org/10.1530/eje-09-0615.

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BackgroundActivating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome. Patients present with HA and leucine-sensitive hypoglycaemia. GDH is regulated by another intra-mitochondrial enzyme sirtuin 4 (SIRT4). Sirt4 knockout mice demonstrate activation of GDH with increased amino acid-stimulated insulin secretion.ObjectivesTo study the genotype–phenotype correlations in patients with GLUD1 mutations. To report the phenotype and functional analysis of a novel mutation (P436L) in th

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Borowczyk, Martyna, Ewelina Szczepanek-Parulska, Szymon Dębicki, et al. "High incidence of FLT3 mutations in follicular thyroid cancer: potential therapeutic target in patients with advanced disease stage." Therapeutic Advances in Medical Oncology 12 (January 2020): 175883592090753. http://dx.doi.org/10.1177/1758835920907534.

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Background: Conventional treatments for follicular thyroid cancer (FTC) can be ineffective, leading to poor prognosis. The aim of this study was to identify mutations associated with FTC that would serve as novel molecular markers of the disease and its outcome and could potentially identify new therapeutic targets. Methods: FLT3 mutations were first detected in a 29-year-old White female diagnosed with metastasized, treatment-refractory FTC. Analyses of FLT3 mutational status through next-generation sequencing of formalin-fixed, paraffin-embedded FTC specimens were subsequently performed in 3

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Moltara, Maja Ebert, Srdjan Novakovic, Marko Boc, et al. "Prevalence of BRAF, NRAS and c-KIT mutations in Slovenian patients with advanced melanoma." Radiology and Oncology 52, no. 3 (2018): 289–95. http://dx.doi.org/10.2478/raon-2018-0017.

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Abstract Background BRAF, NRAS and c-KIT mutations are characteristics of tumour tissues that influence on treatment decisions in metastatic melanoma patients. Mutation frequency and their correlation with histological characteristics in Slovenian population have not been investigated yet. Patients and methods In our retrospective analysis we analysed mutational status of BRAF, NRAS and c-KIT in 230 pathological samples of patients who were intended to be treated with systemic therapy due to metastatic disease at the Institute of Oncology Ljubljana between 2013 and 2016. We collected also hist

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Yeo, Joshua Yi, Darius Wen-Shuo Koh, Ping Yap, Ghin-Ray Goh, and Samuel Ken-En Gan. "Spontaneous Mutations in HIV-1 Gag, Protease, RT p66 in the First Replication Cycle and How They Appear: Insights from an In Vitro Assay on Mutation Rates and Types." International Journal of Molecular Sciences 22, no. 1 (2020): 370. http://dx.doi.org/10.3390/ijms22010370.

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While drug resistant mutations in HIV-1 are largely credited to its error prone HIV-1 RT, the time point in the infection cycle that these mutations can arise and if they appear spontaneously without selection pressures both remained enigmatic. Many HIV-1 RT mutational in vitro studies utilized reporter genes (LacZ) as a template to investigate these questions, thereby not accounting for the possible contribution of viral codon usage. To address this gap, we investigated HIV-1 RT mutation rates and biases on its own Gag, protease, and RT p66 genes in an in vitro selection pressure free system.

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Thomas, Renjan, Gautam Balaram, Hrishi Varayathu, et al. "Molecular epidemiology and clinical characteristics of epidermal growth factor receptor mutations in NSCLC: A single-center experience from India." Journal of Cancer Research and Therapeutics 19, no. 5 (2023): 1398–406. http://dx.doi.org/10.4103/jcrt.jcrt_1986_21.

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ABSTRACT Background: The genetic profiling of non-small cell lung cancer (NSCLC) has contributed to the discovery of actionable targetable mutations, which have significantly improved outcomes in disease with poor prognosis. Molecular epidemiological data of driver mutations in Indian populations have not been extensively elaborated compared to western and eastern Asian NSCLC populations. This study assessed the prevalence and clinical outcomes of EGFR (epidermal growth factor receptor) mutations among the Indian NSCLC cohort in South India. Patients and Methods: Retrospective analysis of 2,00

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Keightley, Peter D., Esther K. Davies, Andrew D. Peters, and Ruth G. Shaw. "Properties of Ethylmethane Sulfonate-Induced Mutations Affecting Life-History Traits in Caenorhabditis elegans and Inferences About Bivariate Distributions of Mutation Effects." Genetics 156, no. 1 (2000): 143–54. http://dx.doi.org/10.1093/genetics/156.1.143.

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Abstract The homozygous effects of ethylmethane sulfonate (EMS)-induced mutations in Caenorhabditis elegans are compared across life-history traits. Mutagenesis has a greater effect on early than late reproductive output, since EMS-induced mutations tend to cause delayed reproduction. Mutagenesis changes the mean and variance of longevity much less than reproductive output traits. Mutations that increase total or early productivity are not detected, but the net effect of mutations is to increase and decrease late productivity to approximately equal extents. Although most mutations decrease lon

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Lee, Ye Ji, Yejin Lee, Youn Jung Kim, Zang Hee Lee, and Jung-Wook Kim. "Novel PAX9 Mutations Causing Isolated Oligodontia." Journal of Personalized Medicine 14, no. 2 (2024): 191. http://dx.doi.org/10.3390/jpm14020191.

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Hypodontia, i.e., missing one or more teeth, is a relatively common human disease; however, oligodontia, i.e., missing six or more teeth, excluding the third molars, is a rare congenital disorder. Many genes have been shown to cause oligodontia in non-syndromic or syndromic conditions. In this study, we identified two novel PAX9 mutations in two non-syndromic oligodontia families. A mutational analysis identified a silent mutation (NM_006194.4: c.771G>A, p.(Gln257=)) in family 1 and a frameshift mutation caused by a single nucleotide duplication (c.637dup, p.(Asp213Glyfs*104)) in family 2.

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Delaugerre, Constance, Mireille Mouroux, Anne Yvon-Groussin, et al. "Prevalence and Conditions of Selection of E44D/A and V118I Human Immunodeficiency Virus Type 1 Reverse Transcriptase Mutations in Clinical Practice." Antimicrobial Agents and Chemotherapy 45, no. 3 (2001): 946–48. http://dx.doi.org/10.1128/aac.45.3.946-948.2001.

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ABSTRACT Recently, it has been shown that a new mutational pattern (the E44D/A and/or V118I mutation) confers moderate phenotypic lamivudine resistance in the absence of the M184V mutation. The E44D/A and/or the V118I mutation does not exist in drug-naive patients, and the prevalence increases with the number of treatment regimens and lamivudine experience. The mutations can preexist in nucleoside-experienced but lamivudine-naive patients. They are always associated with zidovudine resistance-associated mutations, even in the absence of M184V. These mutations are more stable than the M184V sub

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Maxwell, Kara Noelle, Daniel De Sloover, Lyndsey Emery, et al. "The mutational spectrum of breast and ovarian tumors from BRCA1 and BRCA2 mutation carriers." Journal of Clinical Oncology 31, no. 15_suppl (2013): 1510. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.1510.

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1510 Background: Individuals who carry one mutated copy of the BRCA1 or BRCA2 genes have elevated lifetime risks of breast and ovarian cancer. A number of studies have investigated the somatic mutational spectra of breast and ovarian tumors; however, BRCA1/2mutated tumors are underrepresented. Methods: Sixty-eight formalin-fixed paraffin embedded samples from BRCA1/2patients have been identified. Massively parallel sequencing using 48 gene capture is in process, whole exome sequencing of tumor and matched germline DNA is planned. Data are analyzed using a custom bioinformatics pipeline. Result

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Gu, Jin, Jianfei Yao, Lele Song, et al. "The mutational landscape of the adjacent paracancerous tissues confirmed the safe margin of 2-5cm in colorectal cancer resection." Journal of Clinical Oncology 38, no. 15_suppl (2020): e16060-e16060. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e16060.

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e16060 Background: Margin of 2-5cm is regarded as the safe margin in surgical resection of colorectal cancer (CRC) by macroscopic pathological examinations. However, whether 2-5cm is safe has never been verified by molecular evidence. Methods: We systematically analyzed the mutational profile of 35 CRC tissues and paired adjacent paracancerous tissues 2-3cm and 5cm adjacent to the cancer margin by whole-exome sequencing. Results: The number of SNV/INDEL mutations in the adjacent 2-3cm and 5cm tissues was much less than that in cancer. The number of common SNV/INDEL mutations between cancer and

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Serapinas, Danielius, Marius Sukys, Agne Bartkeviciute, Diana Barkauskiene, and Daiva Bartkeviciene. "The spectrum of the most common BRCA1/BRCA2 mutations in Lithuanian high risk families." Genetika 49, no. 1 (2017): 43–50. http://dx.doi.org/10.2298/gensr1701043s.

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Breast cancer is the neoplasm with the highest incidence and mortality among women in Lithuania. The aim of the study was to determine the mutational incidence in BRCA1 and BRCA2 genes in high-risk breast and/or ovarian cancer families. After written informed consent, 36 participants from Lithuanian health science university hospital provided a blood sample for genetic analysis. Molecular diagnostics was done for 6 BRCA1and BRCA2 mutations. From 36 tested subjects for BRCA1/BRCA2 mutations. Positive test for BRCA1/BRCA2 mutations test was found in 12 (33%) cases. Most common BRCA1 mutation was

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35

Lee, Peak-Ling, Benedict Yan, Chin-Hin Ng, Kenneth Hon-Kim Ban, Wee-Joo Chng, and Evelyn Siew-Chuan Koay. "Characterization of AML Patients with CEBPA Mutations in a South-East Asian Population." Blood 126, no. 23 (2015): 2574. http://dx.doi.org/10.1182/blood.v126.23.2574.2574.

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Abstract Introduction: CCAAT/enhancer-binding protein alpha (CEBPA) is a known transcription factor that regulates the balance of differentiation and proliferation of myeloid progenitors. The nature of CEBPA mutations and their prognostic impact in acute myeloid leukemia (AML) have been extensively studied in the Western population, but have not been as well studied in other ethnic populations. There is some evidence that the AML mutational spectrum differs among ethnic groups (Yin et al, Leukemia Research, 2015). This study aims to characterize the AML patients with CEBPA mutations in a South

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36

Lee, Ye Ji, Youn Jung Kim, Wonseon Chae, Seon Hee Kim, and Jung-Wook Kim. "EDA Mutations Causing X-Linked Recessive Oligodontia with Variable Expression." Genes 16, no. 1 (2024): 12. https://doi.org/10.3390/genes16010012.

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Background/Objectives: The ectodysplasin A (EDA) gene, a member of the tumor necrosis factor ligand superfamily, is involved in the early epithelial–mesenchymal interaction that regulates ectoderm-derived appendage formation. Numerous studies have shown that mutations in the EDA gene can cause X-linked ectodermal dysplasia (ED) and non-syndromic oligodontia (NSO). Accordingly, this study aimed to identify the causative genetic mutations of the EDA gene. Methods: We investigated EDA gene mutations in two X-linked oligodontia families using candidate gene sequencing and whole-exome sequencing, w

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37

Zeineddine, Fadl, Benjamin Garmezy, Timothy A. Yap, and John Paul Y. C. Shen. "PMC: A more precise classifier of POLE mutations to identify candidates for immune therapy." Journal of Clinical Oncology 39, no. 15_suppl (2021): 3548. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.3548.

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3548 Background: Specific somatic mutations in DNA polymerase epsilon ( POLE) can cause a hypermutant phenotype with tumor mutation burden (TMB) in excess of 100 mutations per megabase. It has been reported that POLE mutant tumors are enriched in response to immune therapy and this association is being tested in multiple active clinical trials. However, most POLE mutations are passenger mutations and have no pathogenic role. Current methods to classify POLE mutations are limited in both accuracy and completeness, which could lead to inappropriate use of immune agents in tumor such as MSS CRC,

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38

Trindade, Sandra, Lilia Perfeito, and Isabel Gordo. "Rate and effects of spontaneous mutations that affect fitness in mutator Escherichia coli." Philosophical Transactions of the Royal Society B: Biological Sciences 365, no. 1544 (2010): 1177–86. http://dx.doi.org/10.1098/rstb.2009.0287.

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Knowledge of the mutational parameters that affect the evolution of organisms is of key importance in understanding the evolution of several characteristics of many natural populations, including recombination and mutation rates. In this study, we estimated the rate and mean effect of spontaneous mutations that affect fitness in a mutator strain of Escherichia coli and review some of the estimation methods associated with mutation accumulation (MA) experiments. We performed an MA experiment where we followed the evolution of 50 independent mutator lines that were subjected to repeated bottlene

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39

Mohammadi, Mahmoud, Evelyne Roets, Roos F. Bleckman, et al. "Impact of Mutation Profile on Outcomes of Neoadjuvant Therapy in GIST." Cancers 17, no. 4 (2025): 634. https://doi.org/10.3390/cancers17040634.

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Background: Neoadjuvant imatinib therapy plays a crucial role in the management of gastrointestinal stromal tumors (GISTs), but its impact across various mutational profiles remains uncertain. Objective: The aim of this study is to describe the clinicopathological features and to assess the response and surgical outcomes of neoadjuvant imatinib in GIST patients exhibiting diverse mutational profiles. Methods: We conducted a retrospective study, extracting data from the Dutch GIST Registry, including patients treated with neoadjuvant imatinib. Response rate was the primary outcome, and secondar

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40

Olafsson, S., R. E. McIntyre, T. Coorens, et al. "DOP50 The landscape of somatic mutations in non-neoplastic IBD-affected colon." Journal of Crohn's and Colitis 14, Supplement_1 (2020): S088—S089. http://dx.doi.org/10.1093/ecco-jcc/jjz203.089.

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Abstract Background Under normal physiological conditions, colonic crypts accrue ~40 somatic mutations for every year of life. That somatic mutations contribute to the development of cancer is well established, but their patterns, burden and functional consequences in diseases other than cancer have not been extensively studied and our understanding of the effects of chronic inflammation on the mutational profile and clonal structure of the colon is limited. Here, we investigated how the recurrent cycles of inflammation, ulceration and regeneration seen in IBD impact the mutational and clonal

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41

Dong, Chao, Hushan Zhang, Weiqing Liu, et al. "Postoperative prognosis in patients with NSCLC with different EGFR mutation sites." Journal of Clinical Oncology 41, no. 16_suppl (2023): e20528-e20528. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e20528.

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e20528 Background: Lung cancer can be divided into small cell lung cancer and non-small cell lung cancer. At the same time, non-small cell lung cancer can be divided into non-small cell lung cancer with different molecular mutations. Among them, the EGFR mutation accounts for about 50% of the patients with non-small cell lung cancer in China, which is a large group of patients. The EGFR mutation has many sites and many forms of mutational subtypes, including common mutations such as L858R, and rare mutations. Although the proportion of rare mutations is small, it is still different from common

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42

Hu, Zishuo Ian, Anna M. Varghese, Jinru Shia, et al. "Clinical characterization of pancreatic ductal adenocarcinomas (PDAC) with mismatch repair (MMR) gene mutations." Journal of Clinical Oncology 35, no. 15_suppl (2017): e15791-e15791. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e15791.

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e15791 Background: Tumors with mismatch repair-deficiency (MMRD) have a high mutational burden and have good responses to immunotherapy (Le, NEJM, 2015). We describe the natural course, clinicopathological, and genomic status of MMRD PDAC patients (pts) at Memorial Sloan Kettering Cancer Center (MSKCC). Methods: MSKCC institutional registry and ICD billing database queried from 2006-2016 for PDAC pts with genetically confirmed mutations in mismatch repair (MMR) genes. Mutation # determined via MSK-IMPACT, a targeted tumor next generation sequencing (NGS) test (Cheng, J Mol Diagn, 2015). Result

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Song, Hao, Yao Huang, and Xiaoqing Jiang. "Mutation spectrum associated with metastasis of advanced cholangiocarcinoma." Journal of International Medical Research 50, no. 6 (2022): 030006052211020. http://dx.doi.org/10.1177/03000605221102080.

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Background The mutations associated with metastasis in advanced-stage cholangiocarcinoma (CCA) have not been investigated. Objective To explore mutations in patients with advanced CCA and independent factors related to metastasis. Methods This retrospective study performed next-generation sequencing of tumor specimens from patients with advanced CCA treated between January 2017 and December 2019. Tumor mutational burden (TMB), microsatellite instability, and programmed cell death ligand (PD-L)1 positivity were determined. Factors independently associated with metastasis were explored via logis

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44

Wille, Sandra, Vera Grossmann, Tamara Alpermann, et al. "Landscape of TET2 Mutations In Acute Myeloid Leukemia (AML): A Next-Generation Sequencing Study Investigating 76 Cases Comprehensively Characterized for Cytogenetics and Other Molecular Markers." Blood 116, no. 21 (2010): 1035. http://dx.doi.org/10.1182/blood.v116.21.1035.1035.

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Abstract Abstract 1035 Mutations of the ten eleven translocation (TET2) gene have been reported to be frequent in hematological malignancies. However, data are preliminary and investigation is challenging and labor-intensive with standard sequencing techniques. Here, we used massively parallel Titanium amplicon next-generation sequencing (NGS) technology (454 Life Sciences, Branford, CT) and investigated 76 patients with acute myeloid leukemia (AML), including 66 de novo AML, 6 s-AML and 4 t-AML cases, respectively, diagnosed between 8/2005 and 5/2010. The median age of the cohort was 64.7 yea

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45

Claes, Kathleen, Eva Machackova, Michel De Vos, Bruce Poppe, Anne De Paepe, and Ludwine Messiaen. "Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G." Disease Markers 15, no. 1-3 (1999): 69–73. http://dx.doi.org/10.1155/1999/241046.

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Since the identification of the BRCA1 and BRCA2 genes, several hundred different germline mutations in both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. As the mutational spectrum of the BRCA1 and BRCA2 genes in the Belgian patient population is largely unknown, we initiated mutation analysis for the complete coding sequence of both genes in Belgian families with multiple breast and/or ovarian cancer patients and in “sporadic” patients with early onset disease. We completed the analysis in 49 families and in 19 “sporadic” female patients with early

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Ohshima, Hidemi, Eiji Kobayashi, Manabu Inaba, et al. "HRAS Mutations in Head and Neck Carcinomas in Japanese Patients: Clinical Significance, Prognosis, and Therapeutic Potential." International Journal of Molecular Sciences 26, no. 7 (2025): 3093. https://doi.org/10.3390/ijms26073093.

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It is well known that a number of head and neck carcinomas are associated with HRAS mutations, and that several cancers with RAS mutations, such as lung cancer, have a poor prognosis. In this study, we evaluated the frequency of HRAS mutations in head and neck carcinomas and characterized the clinical and cell biological features of carcinomas with HRAS mutations. HRAS mutations at codons 12, 13, and 61, mutational hot spots, were evaluated in tissue specimens obtained from 119 Japanese patients treated at our institution. DNA was successfully extracted from 100 specimens, and sequencing was c

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Juriloff, D. M., S. D. Porter, and M. J. Harris. "Three spontaneous mutations at the albino locus in SELH/Bc mice." Genome 37, no. 2 (1994): 190–97. http://dx.doi.org/10.1139/g94-026.

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The SELH/Bc inbred mouse stock has produced an unusually high number of spontaneous mutations, including sph2Bc, nuBc, a recessive lens opacity, and three mutations at the c locus. Classical genetic and molecular genetic studies were done to investigate the origin of the albino locus mutations. Southern blots probed with the mouse tyrosinase cDNA showed that two of the mutations, cBc and c2Bc, are deletions of exons 1, 2 and 3. The third mutation, c3Bc, showed a disruption, either a rearrangement or an insertion, in the region of exon 1. The deletion of the cBc mutation is anticipated to be la

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Lin, Ming-En, Hsin-An Hou, Yuan-Yeh Kuo, et al. "DNMT3A mutations in De Novo Myelodysplastic Syndrome: Distinct Clinico-Biological Features and Prognostic Relevance." Blood 120, no. 21 (2012): 3799. http://dx.doi.org/10.1182/blood.v120.21.3799.3799.

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Abstract Abstract 3799 Background and Purpose Mutations of the DNMT3A gene, which encodes the enzyme DNA methyltransferase 3A, were identified in patients with myeloid malignancies and are associated with poor prognosis in primary AML patients. However, the clinical and prognostic implications of these mutations in myelodysplastic syndrome (MDS) remain to be determined. Methods and Materials A total of 328 de novo MDS patients diagnosed according to French-American-British (FAB) criteria at the National Taiwan University Hospital who had cryopreserved bone marrow cells for study were recruited

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Alohali, Sama, Alexandra E. Payne, Marc Pusztaszeri, et al. "Effect of Having Concurrent Mutations on the Degree of Aggressiveness in Patients with Thyroid Cancer Positive for TERT Promoter Mutations." Cancers 15, no. 2 (2023): 413. http://dx.doi.org/10.3390/cancers15020413.

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This study aimed to examine whether concurrent mutations with a TERT promoter mutation are associated with a greater likelihood of more aggressive disease than a TERT promoter mutation alone. The medical records of 1477 patients who underwent thyroid surgery at two tertiary hospitals between 2017 and 2022 were reviewed. Twenty-four patients had TERT promoter mutations based on molecular profile testing. Clinicodemographic data, mutational profiles, and histopathological features were assessed. Descriptive analysis, Fisher’s exact test, and binary logistic regression were performed. Seven patie

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Swierczek, Sabina, Christine Bellanne-Chantelot, Donghoon Yoon, et al. "TET2 Mutations in Polycythemia Vera (PV) in Some Cases Follow Rather Than Precede JAK2 V617F Mutation, Are Not a Disease-Initiating Event, Affect Mainly Erythropoiesis, and Contribute to Increased Aggressivity of PV Clone." Blood 114, no. 22 (2009): 3913. http://dx.doi.org/10.1182/blood.v114.22.3913.3913.

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Abstract Abstract 3913 Poster Board III-849 The Ten-Eleven Translocation (TET) 2 gene is a tumor suppressor gene. Its mutations of which are frequently found in PV and other myeloid malignancies. The published evidence suggests that a TET2 mutational burden is present in a higher proportion than JAK2V617F in PV stem cells; its mutations typically precede the JAK2V617F mutation, and are preferentially expressed in myeloid cells. We studied 40 PV patients. Two had known TET2 mutation, one with an intronic mutation (3954+2T>A) predicted to cause aberrant splicing, and the other with a deletion

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