Littérature scientifique sur le sujet « Mutation de consensus »
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Articles de revues sur le sujet "Mutation de consensus"
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Graña, D., T. Gardella et M. M. Susskind. « The effects of mutations in the ant promoter of phage P22 depend on context. » Genetics 120, no 2 (1 octobre 1988) : 319–27. http://dx.doi.org/10.1093/genetics/120.2.319.
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Abstract Recombination was used to construct 22 two- or three-way combinations of down- and up-mutations in Pant, a strong, near-consensus promoter of phage P22. The relative strengths of these promoters in vivo were assayed by fusing them to an ant/lacZ gene fusion and measuring beta-galactosidase levels produced by lysogens carrying the fusions on single-copy prophages. The results of these assays show that the magnitude of the effect of a promoter mutation can vary considerably when its context is changed by the presence of another mutation. In addition, as Pant approaches conformity with the consensus promoter sequence, the up-mutations decrease promoter strength, even though the same mutations increase promoter strength in the presence of a down-mutation. These context effects imply that individual consensus base pairs cannot be considered to contribute to promoter strength independently.
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Parikh, Purvish M., J. Wadhwa, S. Minhas, A. Gupta, S. Mittal, S. Ranjan, P. Mehta et al. « Practical consensus recommendation on when to do BRCA testing ». South Asian Journal of Cancer 07, no 02 (avril 2018) : 106. http://dx.doi.org/10.4103/sajc.sajc_112_18.
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Abstract BRCA-mutation associated breast cancer and to future cancer risks and sensitivity to systemic therapies. Now that rapid genetic testing for BRCA1 and BRCA2 mutations is available, BRCA mutation status can be considered when making treatment and prevention decisions for BRCA testing, BRCA mutation carriers with breast cancer. Expert group used data from published literature, practical experience, and opinion of a large group of academic oncologists, to arrive at practical consensus recommendations for use by the community oncologists.
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Dong, Baijun, Bin Yang, Yonghong Li, Wei Chen, Jing Li, Zhenzhou Xu, Kaijie Wu et al. « Insights into Chinese prostate cancer germline gene mutation profile : HOXB13 G84E mutation is unsuitable for genetic testing. » Journal of Clinical Oncology 38, no 15_suppl (20 mai 2020) : e17515-e17515. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e17515.
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e17515 Background: Philadelphia Prostate Cancer Consensus Conference 2017 developed an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA. However, the consensus was mainly based on data from Caucasian populations. Genetic differences in the PC molecular landscape between Asian and Caucasian men have been established. Whether Caucasian-based genetic information can be used to guide clinical practice in Chinese population needs further evidence. Methods: 1123 patients with confirmed prostate cancer admitted from March 2018 to August 2019 from 18 Chinese centers were included in this retrospective study. We sequenced the association of 50 gene with prostate cancer risk, clinical treatment implications and predisposition, focusing on DNA repair gene and genetic susceptibility genes pathogenic mutations in Philadelphia Prostate Cancer Consensus Conference. Only protein-truncating alterations (nonsense/stop-gains, frameshift insertions and deletions, and donor and acceptor splice-site mutations) were coded as pathogenic or likely pathogenic protein-truncating alterations. Results: Among all cases, DNA repair gene pathogenic mutations were found in 133 men (11.84%), including BRCA2 (62 [5.5%]), ATM (15 [1.3%]), PALB2 (11 [0.97%]), GEN1 (7 [0.62%]), BRCA1 (6 [0.53%]), MLH3 (4 [0.35%]), MUTYH (4 [0.35%]), PMS1 (4 [0.35%]), RAD50 (4 [0.35%]), ATR (3 [0.27%]), CHEK2 (3 [0.27%]), FANCD2 (3 [0.27%]) etc. Similar germline DRG mutation frequencies were observed between our cohort and Caucasian men. Noticeably, G84E mutation in HOXB13, a rare but recurrent missense mutation associated with a significantly increased risk of hereditary prostate cancer was not found in our cohort of patients. Furthermore, the frequency of HSD3B1 (1245C) allele in the Chinese patients is much lower than that in the Caucasian populations (11.7% vs 63%). Conclusions: Our study retrospectively analyzed germline mutation profile of prostate cancer in Chinese population. The frequency of HSD3B1 (1245C) allele varies across ethnic populations in spite of the similar DNA repair gene mutations rates. Considering the gene list should be tested based on clinical/familial scenarios from the Philadelphia Prostate Cancer Consensus Conference, a prevalence of certain mutations, G84E mutation in HOXB13 was unnecessary for genetic testing in Chinese population.
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Bergeron, Julie, Jose-Mario Capo-Chichi, Hubert Tsui, Etienne Mahe, Philip Berardi, Mark D. Minden, Joseph M. Brandwein et Andre C. Schuh. « The Clinical Utility of FLT3 Mutation Testing in Acute Leukemia : A Canadian Consensus ». Current Oncology 30, no 12 (12 décembre 2023) : 10410–36. http://dx.doi.org/10.3390/curroncol30120759.
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FMS-like tyrosine kinase 3 (FLT3) mutations are detected in approximately 20–30% of patients with acute myeloid leukemia (AML), with the presence of a FLT3 internal tandem duplication (FLT3-ITD) mutation being associated with an inferior outcome. Assessment of FLT3 mutational status is now essential to define optimal upfront treatment in both newly diagnosed and relapsed AML, to support post-induction allogeneic hematopoietic stem cell transplantation (alloSCT) decision-making, and to evaluate treatment response via measurable (minimal) residual disease (MRD) evaluation. In view of its importance in AML diagnosis and management, the Canadian Leukemia Study Group/Groupe canadien d’étude sur la leucémie (CLSG/GCEL) undertook the development of a consensus statement on the clinical utility of FLT3 mutation testing, as members reported considerable inter-center variability across Canada with respect to testing availability and timing of use, methodology, and interpretation. The CLSG/GCEL panel identified key clinical and hematopathological questions, including: (1) which patients should be tested for FLT3 mutations, and when?; (2) which is the preferred method for FLT3 mutation testing?; (3) what is the clinical relevance of FLT3-ITD size, insertion site, and number of distinct FLT3-ITDs?; (4) is there a role for FLT3 analysis in MRD assessment?; (5) what is the clinical relevance of the FLT3-ITD allelic burden?; and (6) how should results of FLT3 mutation testing be reported? The panel followed an evidence-based approach, taken together with Canadian clinical and laboratory experience and expertise, to create a consensus document to facilitate a more uniform approach to AML diagnosis and treatment across Canada.
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Amar, Laurence, Karel Pacak, Olivier Steichen, Scott A. Akker, Simon J. B. Aylwin, Eric Baudin, Alexandre Buffet et al. « International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers ». Nature Reviews Endocrinology 17, no 7 (21 mai 2021) : 435–44. http://dx.doi.org/10.1038/s41574-021-00492-3.
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AbstractApproximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the SDH enzyme. When a pathogenic SDHx mutation is identified in an affected patient, genetic counselling is proposed for first-degree relatives. Optimal initial evaluation and follow-up of people who are asymptomatic but might carry SDHx mutations have not yet been agreed. Thus, we established an international consensus algorithm of clinical, biochemical and imaging screening at diagnosis and during surveillance for both adults and children. An international panel of 29 experts from 12 countries was assembled, and the Delphi method was used to reach a consensus on 41 statements. This Consensus Statement covers a range of topics, including age of first genetic testing, appropriate biochemical and imaging tests for initial tumour screening and follow-up, screening for rare SDHx-related tumours and management of elderly people who have an SDHx mutation. This Consensus Statement focuses on the management of asymptomatic SDHx mutation carriers and provides clinicians with much-needed guidance. The standardization of practice will enable prospective studies in the near future.
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Kipling, D., et S. E. Kearsey. « Reversion of autonomously replicating sequence mutations in Saccharomyces cerevisiae : creation of a eucaryotic replication origin within procaryotic vector DNA ». Molecular and Cellular Biology 10, no 1 (janvier 1990) : 265–72. http://dx.doi.org/10.1128/mcb.10.1.265-272.1990.
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To investigate how a defective replicon might acquire replication competence, we have studied the reversion of autonomously replicating sequence (ARS) mutations. By mutagenesis of a Saccharomyces cerevisiae plasmid lacking a functional origin of replication, we have obtained a series of cis-acting mutations which confer ARS activity on the plasmid. The original plasmid contained an ARS element inactivated by point mutation, but surprisingly only 1 of the 10 independent Ars+ revertants obtained shows a back mutation in this element. In the remainder of the revertants, sequence changes in the M13 vector DNA generate new ARSs. In two cases, a single nucleotide change results in an improved match to the ARS consensus, while six other cases show small duplications of vector sequence creating additional matches to the ARS consensus. These results suggest that changes in replication origin distribution may arise de novo by point mutation rather than by transposition of preexisting origin sequences.
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Kipling, D., et S. E. Kearsey. « Reversion of autonomously replicating sequence mutations in Saccharomyces cerevisiae : creation of a eucaryotic replication origin within procaryotic vector DNA. » Molecular and Cellular Biology 10, no 1 (janvier 1990) : 265–72. http://dx.doi.org/10.1128/mcb.10.1.265.
Texte intégralRésumé :
To investigate how a defective replicon might acquire replication competence, we have studied the reversion of autonomously replicating sequence (ARS) mutations. By mutagenesis of a Saccharomyces cerevisiae plasmid lacking a functional origin of replication, we have obtained a series of cis-acting mutations which confer ARS activity on the plasmid. The original plasmid contained an ARS element inactivated by point mutation, but surprisingly only 1 of the 10 independent Ars+ revertants obtained shows a back mutation in this element. In the remainder of the revertants, sequence changes in the M13 vector DNA generate new ARSs. In two cases, a single nucleotide change results in an improved match to the ARS consensus, while six other cases show small duplications of vector sequence creating additional matches to the ARS consensus. These results suggest that changes in replication origin distribution may arise de novo by point mutation rather than by transposition of preexisting origin sequences.
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Baer, Constance Regina, Niroshan Nadarajah, Claudia Haferlach, Wolfgang Kern et Torsten Haferlach. « The Use of Unique Molecular Identifiers (UMIs) Strongly Improves Sequencing Detection Limits Allowing Earlier Detection of Small TP53 Mutated Clones in Leukemias ». Blood 128, no 22 (2 décembre 2016) : 2027. http://dx.doi.org/10.1182/blood.v128.22.2027.2027.
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Abstract Background: TP53 mutations arise in a broad set of hematologic diseases and are associated with poor prognosis and therapy failure. Even small TP53 mutated clones were demonstrated to be of clinical relevance and therefore their early detection is mandatory. Mutations can occur throughout the entire gene (mainly exons 4-10) and include base exchanges, deletions and insertions. Next generation sequencing (NGS) generally detects mutations, which are present in at least 3% of sequences. The detection of mutations at burdens below 3% is still hampered by polymerase and sequencing errors. Especially true mutations caused by single base exchanges (missense-, nonsense- and splice site mutations) are difficult to distinguish from non-specific background. To overcome this limitation, individual molecules can be tagged by unique molecular identifiers (UMIs). UMIs are small random sequences added to each individual molecule before amplification. Building a consensus sequence out of all amplified products derived from one original DNA template, allows reconstructing the sequence of the initial molecule and thereby eliminates amplification errors in silico. Aim: 1) To evaluate reduction of non-specific background in NGS assays after using UMIs to build consensus sequences. 2) To use consensus sequencing to identify early subclones by backtracking of known TP53 mutations in CLL patients. Methods: We added eight random nucleotides as UMI to all reverse primers (design adapted from Peng, et al. 2015) and performed an initial primer extension step. In a subsequent PCR, regions of interest including UMIs were amplified and adapters were added for MiSeq sequencing (Illumina, San Diego, CA). We performed 119 sequencing assays, and analyzed results with a 1% detection limit. Consensus sequences were built using SeqNext 4.3 (JSI Medical Systems, Kippenheim, Germany). A median number of 6 (range: 2-115) reads/consensus read was obtained. Samples contained 66 previously identified mutations (47 single base exchanges; 14 small deletions; 5 small insertions), of which 29 had a burden of 3% or lower. These had been confirmed to be specific by independently repeated sequencing analysis or known in patients at multiple time points during follow-up. Results: We evaluated background signal at each position before consensus read building. On average 97.5% of bases had low-level non-specific background. At each individual position, 0.01-0.87% of reads deviated from the reference sequence (Figure A). Building consensus reads by combining all sequences derived from one original DNA molecule reduced the number of bases with low-level non-specific signal to an average of 18% (Figure B). We performed 119 sequencing analysis with a 1% detection limit, aiming to identify 66 known mutations and no non-specific deviations from the reference sequence. With both approaches, 63/66 mutations were detected and correlation of mutation burdens was high (R2=0.99; P<0.001, calculated by linear regression). Two mutations (1% and 2%) only reached the detection cutoff without consensus read building and one mutation only after consensus read building. Importantly, without using UMIs for consensus reads, in sum 88 non-specific deviations from the reference sequence (likely artifacts) were detectable with the 1% cutoff, while only two likely artifacts remained after consensus sequences building. Thus, the reduction of sequencing artifacts should allow using a 1% cutoff for mutation detection in future routine settings. Therefore, we conducted a backtracking using 31 of the above identified TP53 mutations detected in 15 CLL patients. Samples covered a median timeframe of 26 (range: 2-68) months. Using the previous 3% cutoff for mutation burden, we identified 8/31 (26%) mutations 2-55 months earlier (median: 4 months). Even more, using the adjusted 1% cutoff with UMIs allowed detecting 18/31 (58%) TP53 mutations earlier (2-55 months; median: 18 months). Conclusion: Including UMIs and building consensus sequences, 1) reduced background signal in silico and 2) allowed improving NGS detection limits. This is crucial for the identification of low burden mutations in TP53 and other genes, where small subclones can rapidly expand and have been shown to require early treatment intervention. Disclosures Baer: MLL Munich Leukemia Laboratory: Employment. Nadarajah:MLL Munich Leukemia Laboratory: Employment. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Kern:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership.
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Yuryev, Anton, et Jeffry L. Corden. « Suppression Analysis Reveals a Functional Difference Between the Serines in Positions Two and Five in the Consensus Sequence of the C-Terminal Domain of Yeast RNA Polymerase II ». Genetics 143, no 2 (1 juin 1996) : 661–71. http://dx.doi.org/10.1093/genetics/143.2.661.
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Abstract The largest subunit of RNA polymerase II contains a repetitive C-terminal domain (CTD) consisting of tandem repeats of the consensus sequence TyrlSer2Pro3Thr4Ser5Pro6Ser7. Substitution of nonphosphe rylatable amino acids at positions two or five of the Saccharomyces cerevisiae CTD is lethal. We developed a selection ssytem for isolating suppressors of this lethal phenotype and cloned a gene, SCA1 (suppressor of CTD alanine), which complements recessive suppressors of lethal multiple-substitution mutations. A partial deletion of SCA1 (sca1Δ::hisG) suppresses alanine or glutamate substitutions at position two of the consensus CTD sequence, and a lethal CTD truncation mutation, but SCA1 deletion does not suppress alanine or glutamate substitutions at position five. SCA1 is identical to SRB9, a suppressor of a cold-sensitive CTD truncation mutation. Strains carrying dominant SRB mutations have the same suppression properties as a sca1Δ::hisG strain. These results reveal a functional difference between positions two and five of the consensus CTD heptapeptide repeat. The ability of SCA1 and SRB mutant alleles to suppress CTD truncation mutations suggest that substitutions at position two, but not at position five, cause a defect in RNA polymerase II function similar to that introduced by CTD truncation.
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Ahn, Eun Hyun, et Seung Hyuk Lee. « Detection of Low-Frequency Mutations and Identification of Heat-Induced Artifactual Mutations Using Duplex Sequencing ». International Journal of Molecular Sciences 20, no 1 (8 janvier 2019) : 199. http://dx.doi.org/10.3390/ijms20010199.
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We present a genome-wide comparative and comprehensive analysis of three different sequencing methods (conventional next generation sequencing (NGS), tag-based single strand sequencing (e.g., SSCS), and Duplex Sequencing for investigating mitochondrial mutations in human breast epithelial cells. Duplex Sequencing produces a single strand consensus sequence (SSCS) and a duplex consensus sequence (DCS) analysis, respectively. Our study validates that although high-frequency mutations are detectable by all the three sequencing methods with the similar accuracy and reproducibility, rare (low-frequency) mutations are not accurately detectable by NGS and SSCS. Even with conservative bioinformatical modification to overcome the high error rate of NGS, the NGS frequency of rare mutations is 7.0 × 10−4. The frequency is reduced to 1.3 × 10−4 with SSCS and is further reduced to 1.0 × 10−5 using DCS. Rare mutation context spectra obtained from NGS significantly vary across independent experiments, and it is not possible to identify a dominant mutation context. In contrast, rare mutation context spectra are consistently similar in all independent DCS experiments. We have systematically identified heat-induced artifactual variants and corrected the artifacts using Duplex Sequencing. Specific sequence contexts were analyzed to examine the effects of neighboring bases on the accumulation of heat-induced artifactual variants. All of these artifacts are stochastically occurring rare mutations. C > A/G > T, a signature of oxidative damage, is the most increased (170-fold) heat-induced artifactual mutation type. Our results strongly support the claim that Duplex Sequencing accurately detects low-frequency mutations and identifies and corrects artifactual mutations introduced by heating during DNA preparation.
Thèses sur le sujet "Mutation de consensus"
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Callahan, Nicholas. « Bioinformatics-Driven Enzyme Engineering : Work On Adenylate Kinase ». The Ohio State University, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=osu1420802270.
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Jamal, Layal. « Structural and functional characterization of the lysosomal amino acid transporter PQLC2 ». Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASL129.
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PQLC2, qui signifie protéine conte- nant des répétitions de boucle proline-gluta- mine 2, appartient à une famille de protéines de transport membranaires caractérisées par une topologie membranaire à sept hélices et deux motifs proline-glutamine. PQLC2 est localisé dans la membrane lysosomale des cellules mammifères, et des études utilisant du PQLC2 recombinant exprimé dans des ovocytes de Xe- nopus ont démontré que PQLC2 est un unipor- teur qui transporte spécifiquement des acides aminés cationiques. Cependant, sa structure atomique en 3D n’a pas encore été déterminée. En plus de son rôle de transporteur, PQLC2 est également un récepteur membranaire. Lorsque la cellule est privée d’acides aminés cationiques, PQLC2 recrute à la surface du lysosome un com- plexe de trois protéines (appelé CSW) : les pro- téines GTPas-activatrices C9ORF72 et SMCR8, et WDR41, l'ancrage entre CSW et PQLC2. Le com- plexe CSW est important pour le bon fonction- nement des lysosomes. De plus, des mutations congénitales dans le gène codant pour C9ORF72 sont directement associées à deux maladies neurodégénératives. Des essais de pull-down dans des extraits cellu- laires indiquent que l’interaction d’un court mo- tif peptidique de 10 acides aminés provenant d’une boucle saillante de WDR41 (boucle WDR41-7CD) avec PQLC2 est suffisante pour le recrutement lysosomique de CSW. Afin de ca- ractériser cette interaction ainsi que le rôle fonc- tionnel de PQLC2, nous avons exprimé PQLC2 de mammifère dans la levure Saccharomyces cerevisiae et établi un protocole de purification de PQLC2 basé sur la reconnaissance entre des nanocorps anti-GFP et GFP fusionné à PQLC2. Pour améliorer la stabilité de PQLC2 purifié par détergent, nous avons introduit des mutations spécifiques le long de la séquence de la pro- téine en utilisant une approche de mutagenèse basée sur un consensus. La microscopie électro- nique à contraste négatif de PQLC2 purifié par détergent suggère que ce transporteur s’as- semble sous forme d’homotrimère, comme les autres membres de la même famille de trans- porteurs à boucle PQ. Enfin, par spectroscopie de résonance paramagnétique électronique (RPE), nous avons évalué l’interaction directe entre PQLC2 et un peptide codant la boucle WDR41. Ces expériences ont révélé le rôle de certains résidus de la boucle WDR41 dans l’in- teraction PQLC2/boucle WDR41-7CD, ainsi que l’effet d’un substrat de PQLC2PQLC2, which stands for proline-glu- tamine loop repeat-containing protein 2, be- longs to a family of membrane transport pro- teins characterized by a seven-helix membrane topology and two proline-glutamine motifs. PQLC2 is localized in the lysosomal membrane of mammalian cells, and studies using recombi- nant PQLC2 expressed in Xenopus oocytes have demonstrated that PQLC2 is an uniporter that specifically transports cationic amino acids. However, its 3D atomic structure has not yet been determined. In addition to being a trans- porter, PQLC2 is also a membrane receptor. When the cell is deprived of cationic amino acids, PQLC2 recruits at the lysosome surface a complex of three proteins (called CSW): the GTPase-activating proteins C9ORF72 and SMCR8, and WDR41, the anchor between CSW and PQLC2. The CSW complex is important for normal lysosome function. In addition, congeni- tal mutations in the gene encoding C9ORF72 are directly associated with two neurodegene- rative diseases. Pull-down assays in cell extracts indicate that the interaction of a short 10 amino acid peptide motif from a protruding loop of WDR41 (WDR41-7CD loop) with PQLC2 is sufficient for lysosomal recruitment of CSW. To characterize this interaction as well as the functional role of PQLC2, we expressed mammalian PQLC2 in the yeast Saccharomyces cerevisiae, and established a purification protocol of PQLC2 based on the recognition between anti-GFP nanobodies and GFP fused to PQLC2. To improve the stability of detergent-purified PQLC2, we introduced speci- fic mutations along the protein sequence using a consensus-based mutagenesis approach. Ne- gative-staining electron microscopy of deter- gent-purified PQLC2 suggests that this trans- porter assembles as a homotrimer, like other members of the same PQ-loop family of trans- porters. Finally, by electron paramagnetic re- sonance (EPR) spectroscopy, we assessed the direct interaction between PQLC2 and a peptide encoding the WDR41 loop. These experiments revealed the role of certain WDR41 loop resi- dues in the PQLC2/WDR41-7CD loop interac- tion, as well as the effect of a PQLC2 substrate
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Mok, Chee-Keng, et 莫子京. « Alanine-Scanning Mutations in Consensus Regions of Influenza A Virus Neuraminidase ». Thesis, 2007. http://ndltd.ncl.edu.tw/handle/jr4hg7.
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碩士長庚大學
醫學生物技術研究所
95
Neuraminidase (NA), a surface glycoprotein of Influenza A virus, is an important molecular target in the development of antiviral drugs. Twenty-eight highly conserved amino acid residues in influenza A viral NA protein were identified through in silico analysis based on 2,827 NA sequences deposited in NCBI. Seven out of 28 are located on the site of sialic acid interactions of NA. Positions 151 and 371 have been reported to influence the susceptibility of drugs to Tamiflu or Zanamivir. With an A/WSN/33 (H1N1) as a backbone, alanine substitution was introduced into these 28 positions in NA and reverse genetics were used to evaluate the viability of these mutants. Seven out of 28 mutants were rescued, indicating that the other 21 positions in NA are essential to viral viability. This study was observed the molecular mechanism that contributes to the importance of the amino acid residues. We believe that the results obtained herein this project provide valuable information in anti-influenza viral drug design based on NA as a molecular target.
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Hu, Rei-Hsing, et 胡瑞興. « Mutational effects of the consensus aromatic residues in the mRNA capping domain of Bamboo mosaic virus on GTP methylation and virus accumulation and the establishment of BaMV replication system in Saccharomyces cerevisiae ». Thesis, 2011. http://ndltd.ncl.edu.tw/handle/10072744641647859348.
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博士國立中興大學
生物科技學研究所
99
Bamboo mosaic virus (BaMV), a member of the Potexvirus of the alpaviurslike superfamily, is a positive-strand RNA virus. The genome of BaMV consists of five open reading frames (ORFs), and the ORF 1 encodes a 155-kDa replicase, which could be separated into a capping enzyme domain, a helicase-like domain (HLD), and an RNA-dependent RNA polymerase domain (RdRp) from N to C terminus. The alphavirus-like superfamily has a special pathway for cap formation, by which the capping enzyme will first methylate GTP to generate m7GTP (methyltransferase activity) and transfer the m7GMP moiety from m7GTP to the 5’-diphosphate end of RNA (guanylyltransferase activity). The H68A mutant of BaMV capping enzyme has an increased methyltransferase activity than wildtype, but lose the guanylyltransferase activity; therefore, it represents a better target for the study of methyltransferase. A number of aromatic residues are conserved among the capping enzyme of the alphavirus-like superfamily. In order to understand importance of the consensus residues in substrate affinity (AdoMet and GTP) and GTP methylation, each of the residues was mutated on the basis of H68A. The changes in GTP methylation are correlated with the changes in AdoMet affinity based on the mutation effects of Y126, F144, F161, Y192, Y203, and Y213. In general, most mutants decrease the activity of GTP methylation, and injure the viral accumulation in plant, too. Studying viral replication by using yeast as a host is a convenient way to find out the host factors; therefore, the system was attempted to be set up for studying the replication of BaMV. Plasmid, pHGB, containing the BaMV cDNA downstream the GAP (Glyceraldehyde-3-phosphate dehydrogenase) promoter, was constructed to drive the transcription of the complete genome RNA of BaMV in yeast. Several different yeast strains were transformed with the plasmid, and the coat protein (CP), which is encoded by the ORF 5 of the viral RNA, could be accumulated in these yeasts. Furthermore, deletion of the GDD motif, which is important for RdRp activity dramatically decreased the amount of CP. But the mutation of GKS, which is important residues for HLD, did not affect the accumulation of CP. The results implied that the accumulation of CP was related to the function of RdRp. However, PVX (Potato virus X) and FoMV (Foxtail mosaic virus) which both belong to the Potexvirus genus could not accumulate their CP in this system.
Chapitres de livres sur le sujet "Mutation de consensus"
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Sieradzka, Katarzyna, Kinga Leszczorz, Mateusz Garbulowski et Andrzej Polanski. « Consensus Approach for Detection of Cancer Somatic Mutations ». Dans Advances in Intelligent Systems and Computing, 163–71. Cham : Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-67792-7_17.
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Muller, Ulrich. « MSX2 and ALX4 and Craniosynostosis and Defects of Skull Ossification ». Dans Inborn Errors Of Development, 730–34. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0076.
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Abstract Mutations in the homeobox gene MSX2 can result in both craniosynostosis (premature fusion of the calvarial sutures) and its opposite, parietal foramina (PFM) (delayed ossification along the sagittal sutures). The one MSX2 mutation (Pro148His) described in craniosynostosis to date results in a gain of gene function due to increased binding to the consensus MSX binding site and the subsequent overstimulation of MSX2 target genes. Conversely, haploinsufficiency of MSX2 is the cause of PFM. Haploinsufficiency of another homeobox gene, ALX4, can also underlie PFM. No mutation has yet been discovered in this gene in craniosynostosis.
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Lopes, Luis Rocha. « Dilated cardiomyopathy : genetics ». Dans ESC CardioMed, 1467–73. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0355.
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The genetic background of dilated cardiomyopathy is characterized by heterogeneity. Truncating mutations in titin (TTN), responsible for around 20% of cases, have recently been recognized as the most prevalent genetic cause of dilated cardiomyopathy. Other important causal genes are LMNA (coding for the nuclear envelope protein, lamin A/C) and sarcomere protein genes, such as beta-myosin heavy chain (MYH7) and troponin T (TNNT2). Other loci, including genes that code for cytoskeleton, Z-disc, and membrane-associated proteins, are each responsible for a lower percentage of cases. Current consensus recommendations propose genetic testing in the presence of familial forms of the disease or when certain phenotype characteristics, such as conduction disease or a family history of sudden cardiac death, are present. Some causal genes are associated with a worse prognosis. This is most strongly established for LMNA, where the presence of a disease-causing mutation, together with certain clinical risk factors, is an indication for an implantable cardioverter defibrillator.
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Lank, David B. « Synthesis and conclusions ». Dans The Snow Geese Of La Pérouse Bay, 262–72. Oxford University PressOxford, 1995. http://dx.doi.org/10.1093/oso/9780198540649.003.0014.
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Abstract About half a century ago, biologists reached a broad consensus that four fundamental processes could account for evolutionary change within populations. Natural selection, gene flow, genetic drift, and the generation of new variability through mutation were recognized as the major processes moulding the genetic variation of populations. Since that consensus, ecological geneticists and others have tried to determine precisely how these sources of genetic stability and change have interacted to determine the current evolutionary status of populations and might operate in the future to determine the trajectory of particular populations in their environments. The long term goal of these studies has been to generate robust statements about the relative importance or domains of evolutionary processes in nature, and to suggest and test refinements to theoretical population genetics models which predict how evolution should proceed under particular conditions.
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Burling, Robbins. « The Slow Growth of Language in Children ». Dans The Transition to Language, 297–310. Oxford University PressOxford, 2002. http://dx.doi.org/10.1093/oso/9780199250653.003.0014.
Texte intégralRésumé :
Abstract A surprisingly broad consensus has grown among scholars who are interested in the origin of language that the ability to speak was a relatively recent and quite rapid development (e.g. Noble and Davidson 1996: 17). Hardly anyone would now go so far as to credit a single mutation for all syntax, as Bickerton once did (1990, 1998), and even Bickerton has moderated his earlier position (Bickerton 2000, Calvin and Bickerton 2000). Carstairs Mc Carthy has also proposed a scenario that allows for more than a single stage of syntax (1999, 2000). In spite of this, however, full syntax is still widely presumed to have come quite late (40,000 to 150,000 years ago) and, by the standards of most evolutionary change, very quickly. One support for the presumption of suddenness is the difficulty that some linguists have in imagining a partial syntax. Syntax is presumed to be not only incredibly complex, but highly interconnected. No part, it is sometimes believed, could exist without all the rest, and all its extraordinary complexities are seen as following from a few simple principles (e.g. Berwick 1998).
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Arbustini, Eloisa, Valentina Favalli, Alessandro Di Toro, Alessandra Serio et Jagat Narula. « Classification of cardiomyopathies ». Dans ESC CardioMed, 1432–37. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0348_update_001.
Texte intégralRésumé :
For over 50 years, the definition and classification of cardiomyopathies have remained anchored in the concept of ventricular dysfunction and myocardial structural remodelling due to unknown cause. The concept of idiopathic was first challenged in 2006, when the American Heart Association classification subordinated the phenotype to the aetiology. Cardiomyopathies were classified as genetic, acquired, and mixed. In 2008, the European Society of Cardiology proposed a phenotype-driven classification that separated familial (genetic) from non-familial (non-genetic) forms of cardiomyopathy. Both classifications led the way to a precise phenotypic and aetiological description of the disease and moved away from the previously held notion of idiopathic disease. In 2013, the World Heart Federation introduced a descriptive and flexible nosology—the MOGE(S) classification—describing the morpho-functional (M) phenotype of cardiomyopathy, the involvement of additional organs (O), the familial/genetic (G) origin, and the precise description of the (a)etiology including genetic mutation, if applicable (E); reporting of functional status such as American College of Cardiology/American Heart Association stage and New York Heart Association classification (S) was left optional. MOGE(S) is a bridge between the past and the future. It allows description of comprehensive phenotypic data, all genetic and non-genetic causes of cardiomyopathy, and incorporates description of familial clustering in a genetic disease. MOGE(S) is the instrument of precision diagnosis for cardiomyopathies. The addition of the early and unaffected phenotypes to the (M) descriptor outlines the clinical profile of an early affected family member; the examples include non-dilated hypokinetic cardiomyopathy in dilated cardiomyopathy and septal thickness (13–14 mm) in hypertrophic cardiomyopathy classes. Finally, in the recently released scientific statement of the American Heart Association on the classification and diagnosis of cardiomyopathy in children the consensus was to use a classification system based on a hierarchy incorporating the required elements of the MOGE(S) classification.
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Hamblin, Jacob Darwin. « A Thousand Years into One ». Dans The Wretched Atom, 38–60. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780197526903.003.0003.
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Eisenhower’s “Atoms for Peace” speech is often seen as the founding story of atomic energy’s peaceful side. In fact, it was not such a dramatic break from the past. The Democrats had begun to use the atom in this way, first with radioisotopes and then with other intriguing ideas, such as irradiating seeds in the hope of generating wondrous mutations. The Democrats hatched the germ of the idea of “Atoms for Peace,” calling for a global atomic Marshall Plan, shortly after President Truman announced in 1949 his decision to pursue development of the hydrogen bomb. The idea of the peaceful atom was deployed rhetorically to mitigate the political consequences of significant escalations in weapons development. Eisenhower’s pledge delivered not a new program but American political consensus about how the atom should be discussed as a matter of state.
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Basso, Cristina, Hugh Calkins et Domenico Corrado. « Arrhythmogenic right ventricular cardiomyopathy ». Dans The ESC Textbook of Heart Failure, sous la direction de Petar M. Seferović, Andrew J. S. Coats, Gerasimos Filippatos, Stefan D. Anker, Johann Bauersachs et Giuseppe Rosano, 100–109. Oxford University PressOxford, 2023. http://dx.doi.org/10.1093/med/9780198891628.003.0010.
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Abstract Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heredo-familial heart muscle disease characterized by progressive myocardial atrophy with fibrofatty replacement. It is a rare disease with an estimated prevalence of 1:2000 to 1:5000. Pathogenic mutations are identified in about 50% of probands, mostly in genes encoding desmosomal proteins. ARVC is a major cause of life-threatening ventricular arrhythmias at risk of sudden death in the young. A less common presentation is heart failure mimicking dilated cardiomyopathy. Risk stratification is a major clinical challenge, and sport disqualification is lifesaving. Antiarrhythmic drugs, catheter ablation, and implantable cardioverter–defibrillator are the therapeutic tools. The diagnostic criteria have been updated to improve diagnostic sensitivity while maintaining specificity. The identification of biventricular and left ventricular variants, through genotype–phenotype studies, including contrast-enhanced cardiac magnetic resonance imaging, supports the use of the broader term ‘arrhythmogenic cardiomyopathy’. The recently proposed international consensus guidelines for diagnosis will be discussed.
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M. Harvey, Evan, Murad Almasri et Hugo R. Martinez. « Genetics of Cardiomyopathy ». Dans Cardiomyopathy - Disease of the Heart Muscle [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.97010.
Texte intégralRésumé :
Cardiomyopathies (CMs) encompass a heterogeneous group of structural and functional (systolic and diastolic) abnormalities of the myocardium and are either confined to the cardiovascular system or are part of a systemic disorder. CMs represent a leading cause of morbidity and mortality and account for a significant percentage of death and cardiac transplantation. The 2006 American Heart Association (AHA) classification grouped CMs into primary (genetic, mixed, or acquired) or secondary (i.e., infiltrative or autoimmune). In 2008, the European Society of Cardiology classification proposed subgrouping CM into familial or genetic and nonfamilial or nongenetic forms. In 2013, the World Heart Federation recommended the MOGES nosology system, which incorporates a morpho-functional phenotype (M), organ(s) involved (O), the genetic inheritance pattern (G), an etiological annotation (E) including genetic defects or underlying disease/substrates, and the functional status (S) of a particular patient based on heart failure symptoms. Rapid advancements in the biology of cardio-genetics have revealed substantial genetic and phenotypic heterogeneity in myocardial disease. Given the variety of disciplines in the scientific and clinical fields, any desired classification may face challenges to obtaining consensus. Nonetheless, the heritable phenotype-based CM classification offers the possibility of a simple, clinically useful diagnostic scheme. In this chapter, we will describe the genetic basis of dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), LV noncompaction cardiomyopathy (LVNC), and restrictive cardiomyopathy (RCM). Although the descriptive morphologies of these types of CM differ, an overlapping phenotype is frequently encountered within the CM types and arrhythmogenic pathology in clinical practice. CMs appear to originate secondary to disruption of “final common pathways.” These disruptions may have purely genetic causes. For example, single gene mutations result in dysfunctional protein synthesis causing downstream dysfunctional protein interactions at the level of the sarcomere and a CM phenotype. The sarcomere is a complex with multiple protein interactions, including thick myofilament proteins, thin myofilament proteins, and myosin-binding proteins. In addition, other proteins are involved in the surrounding architecture of the sarcomere such as the Z-disk and muscle LIM proteins. One or multiple genes can exhibit tissue-specific function, development, and physiologically regulated patterns of expression for each protein. Alternatively, multiple mutations in the same gene (compound heterozygosity) or in different genes (digenic heterozygosity) may lead to a phenotype that may be classic, more severe, or even overlapping with other disease forms.
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Thiene, Gaetano, Kalliopi Pilichou, Stefania Rizzo et Cristina Basso. « Arrhythmogenic cardiomyopathy and sudden death in young athletes : causes, pathophysiology, and clinical features ». Dans The ESC Textbook of Sports Cardiology, sous la direction de Antonio Pelliccia, Hein Heidbuchel, Domenico Corrado, Mats Börjesson et Sanjay Sharma, 184–201. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780198779742.003.0022.
Texte intégralRésumé :
Arrhythmogenic cardiomyopathy (AC) is a rare non-ischaemic cardiomyopathy with a prevalence in of 1:200 to 1:5000. In the 1980s, the disorder was demonstrated to be a major cause of sudden death (SD) in the young and athletes, thus emphasizing the need for early diagnosis for disqualification from sport activity. Pre-participation screening using ECG is effective in detecting ECG abnormalities which raise suspicion of the disease, requiring additional second- and third-level investigations to obtain a definite diagnosis. Cardiac magnetic resonance (CMR), which can detect both morpho-functional and tissue abnormalities, is probably the best tool for assessing doubtful cases. The rarer left ventricular variant (‘non-ischaemic left ventricular scar’) is not detected by ECG at first-level pre-participation screening, which presents a major challenge for SD prevention. Risk stratification consensus criteria recommend use of an implantable cardioverter defibrillator (ICD). Use of pre-participation screening and automated external defibrillators (AEDs), working together should help to prevent SD. Since at least 60% of cases are heredofamilial and usually present desmosome gene mutations, genetic investigation should be carried out in the proband and cascade genetic screening should be offered to first-degree family members for primary prevention. Basic research into the AC pathogenic mechanisms is in progress, and there is clinical and experimental evidence that exercise with right ventricular overload may favour onset and progression of AC, at least in genotype-positive patients. Reduction of sports activity will not only prevent abrupt onset of ventricular arrhythmias with the risk of SD, but may also delay phenotype expression.
Actes de conférences sur le sujet "Mutation de consensus"
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Hamza, Noha M., Daryl L. Essam et Ruhul A. Sarker. « Differential evolution with a constraint consensus mutation for solving optimization problems ». Dans 2014 IEEE Congress on Evolutionary Computation (CEC). IEEE, 2014. http://dx.doi.org/10.1109/cec.2014.6900474.
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Da Silva, José Eduardo H., Francisco A. L. Manfrini, Heder S. Bernardino et Helio J. C. Barbosa. « Biased Mutation and Tournament Selection Approaches for Designing Combinational Logic Circuits via Cartesian Genetic Programming ». Dans XV Encontro Nacional de Inteligência Artificial e Computacional. Sociedade Brasileira de Computação - SBC, 2018. http://dx.doi.org/10.5753/eniac.2018.4471.
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Cartesian Genetic Programming (CGP) is often applied to design combinational logic circuits. However, there is no consensus in the literature regarding the more appropriate objective function when it is desired to minimize the number of logic gates of the circuit. Thus, we analyze here two strategies: the minimization of the number of logic gates and the maximization of the number of wire gates. Additionally, a biased mutation strategy for CGP, which were previously presented and tested only to find a feasible solution, are extended in this paper for the subsequent optimization step. Several configurations were proposed and tested varying objective function and selection schemes. Compu- tational experiments are conducted with some benchmark circuits to relatively compare the proposed methods, and the results obtained are better than those found by the other techniques considered here.
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Assunção, Silvaleide Ataides, Vinicius Lemos Nascimento, Bruno Henrique de Aguiar Brito, Carolina Daher de Alencar Neves, Laura Queiroz da Silva, Pedro Vinicyus Novais e. Souza, Fernando Santos de Azevedo et Lanúscia Morais de Santana. « NTRK MUTATION IN ADENOID CYSTIC CARCINOMA : A RARE TYPE OF TRIPLE NEGATIVE ». Dans Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2072.
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Introduction: Breast cancer is one of the neoplasms that most cause death in women. Among these, there are some subtypes of greater biological aggressiveness, such as triple negative and HER overexpressed, which are associated with greater recurrence and mortality. Adenoid cystic carcinoma (ACC), salivary gland type, represents less than 0.1% of primary breast carcinomas and has indolent biological behavior and favorable prognosis compared with nonspecial triplenegative types. Case Report: A 51-year-old woman diagnosed with locally advanced ACC in the right breast, with negative immunohistochemistry for hormone receptors and HER2, underwent quadrantectomy with upfront axillary dissection, followed by adjuvant radiotherapy. After 12 years of diagnosis, she presented significant back pain, with magnetic resonance imaging scan evidencing bone lesion without medullary involvement in D7 and L1 suggestive of the secondary implant. Anatomopathology revealed the same histology as the primary tumor. Re-evaluation of chest tomography showed progression of pulmonary disease, 5 months after diagnosis of the first metastasis, underwent segmentectomy, with descriptive pathology identical to the initial lesion. Due to the oligoprogression and tumor type, somatic genetic research of the lung material was requested, which revealed a mutation in the NTRK gene, patient is still waiting for Larotrectinib in court. Discussion: The tumor has an unusual histological type, rare occurrence, slow progression course, and the absence of lymph node metastasis; the average incidence is around age 60. In this case, a young patient presented an ACC tumor with lung and bone metastasis. Due to the rarity, there is no definitive consensus regarding the ideal treatment, with the literature referring to the choice of mastectomy. Conclusions: Although malignant breast neoplasms and nonspecial subtypes, such as ductal and triple negative, have a poor prognosis, breast carcinoma of this aforementioned type has a favorable prognosis. The search for driver mutations in cancers of special types, together with the advances in genetic medicine, allows satisfactory results with target-specific treatments.
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Zerwes, Felipe Pereira, Ruffo de Freitas Junior, Vilmar Marques de Oliveira, Antonio Luiz Frasson, Francisco Pimentel Cavalcante, Fabio Postiglione Mansani et Andre Mattar. « SYSTEMIC TREATMENT FOR EARLY-STAGE TRIPLE-NEGATIVE BREAST CANCER : A RECOMMENDATION FROM AN EXPERT PANEL OF THE BRAZILIAN SOCIETY OF MASTOLOGY ». Dans Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2060.
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Objective: The aim of this study was to assess the knowledge and attitudes of members of the Brazilian Society of Mastology (SBM) about the systemic treatment of triple-negative breast cancer (TNBC). Methods: All 1,400 SBM members were invited to answer a survey with 44 objective questions. An expert meeting was held in December 2021, with the participation of 27 experts and 3 ad hoc consultants. Panelists responded to the survey before and after the meeting (brainstorm). Responses that reached 70% agreement were considered consensual. Results: There was consensus regarding the indications of neoadjuvant chemotherapy and the addition of platinum in this context, unlike immunotherapy, which was only recommended among experts after brainstorming. The presence of germline BRCA mutations does not interfere with the recommendation of neoadjuvant treatment with immunotherapy (double consensus). In contrast, 70.6% of mastologists consider the status of PD-L1 for the indication of neoadjuvant immunotherapy. Faced with the combination of chemotherapy and neoadjuvant immunotherapy, about 75% of respondents recommend that anthracyclines be used in a dose- -dense regimen (double consensus). After the brainstorm, this agreement was reversed. In adjuvant therapy, controversies remain regarding the maintenance of immunotherapy and the combination of immunotherapy and capecitabine/olaparib in relevant cases. Conclusion: Consensus among experts was reached on more than 70% of the questions, and agreement between panelists and associates was moderate. As verified in the brainstorm, the educational intervention about the systemic treatment of breast cancer influenced the mastologist’s decision-making in 60% of the questions. This theme should be explored, intensively and systematically, in continuing education actions aimed at mastologist professionals.
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Soares, Leonardo Ribeiro, Vilmar Marques de Oliveira, Antonio Luiz Frasson, Francisco Pimentel Cavalcante, Fabio Postiglione Mansani, André Mattar, Felipe Pereira Zerwes et Ruffo Freitas-Junior. « LOCOREGIONAL TREATMENT FOR EARLY-STAGE TRIPLE-NEGATIVE BREAST CANCER : A RECOMMENDATION FROM AN EXPERT PANEL OF THE BRAZILIAN SOCIETY OF MASTOLOGY ». Dans Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2065.
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Objective: The aim of this study was to evaluate the knowledge and attitudes of the members of the Brazilian Society of Mastology (SBM) about the locoregional treatment of triple-negative breast cancer (TNBC). Methods: All 1,400 SBM members were invited to answer a survey of 44 objective questions. An expert meeting was held in December 2021, with the participation of 27 experts and 3 ad hoc consultants. Panelists responded to the survey before and after the meeting (brainstorm). Responses that reached 70% agreement were considered consensual. Results: In a patient undergoing conservative surgery after neoadjuvant therapy, with a compromised sentinel lymph node (SLNB), there was a double consensus on the indication of lymphadenectomy (ALND). In patients undergoing upfront surgery, with compromised SLNB, there was a double consensus on the indication of radiotherapy for locoregional control. However, 22% of breast specialists still indicate ALND in patients eligible for the ACOSOG Z0011 study. In women with TNBC who tested negative for pathogenic mutations, 100% of the panelists disagreed with the unrestricted indication of bilateral mastectomy. In women with a positive test, almost 100% of the respondents stated that the possibility of bilateral mastectomy should be considered. The panel reaffirmed the concept of “no ink on tumor” as adequate margins, regardless of initial treatment. Conclusion: Consensus among experts was reached on more than 70% of the questions, and agreement between panelists and associates was moderate. In view of the differences observed in some points already consolidated in the literature, it is suggested that the locoregional treatment of TNBC be explored, in an intense and systematic way, in continuing education actions aimed at the mastologist.
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Lafont, J., J. H. Catherine, M. Lejeune, U. Ordioni, R. Lan et F. Campana. « Manifestations buccales de la sclérose tubéreuse de Bourneville ». Dans 66ème Congrès de la SFCO. Les Ulis, France : EDP Sciences, 2020. http://dx.doi.org/10.1051/sfco/20206603014.
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L’objectif de ce travail est de faire le point sur les manifestations buccales de la sclérose tubéreuse de Bourneville (STB) à travers le cas d’un jeune patient. Un jeune homme de 15 ans était adressée pour la mise en place de minivis orthodontique afin de fermer des espaces d’agénésies de 35 et 45. L’interrogatoire retrouvait une STB dont les manifestations épileptiques étaient traitées par de la lamotrigine 75mg/j et de la carbamazépine LP 200mg/j. L’examen clinique exo-buccal retrouvait des macules hypochromiques sur le membre inférieur droit, des angiofibromes faciaux et une malformation vasculaire jugale gauche. L’examen endo-buccal retrouvait de multiples lésions buccales sur les papilles interdentaires pouvant évoquer des fibromes ou des hamartomes. Une biopsie était réalisée et retrouvait un revêtement malpighien, discrètement hyperplasique et sans atypie cellulaire. Les faisceaux collagènes du conjonctif étaient mêlés à de nombreux fibroblastes aux noyaux réguliers, sans mitose visible. Les cellules inflammatoires, essentiellement mononuclées, étaient dispersées mais tendaient à se regrouper autour de vaisseaux nombreux et hyperplasiques. L’examen concluait à un fibrome. Aucun traitement buccal n’était proposé devant l’absence de symptôme et de demande esthétique. La STB est une maladie génétique autosomique dominante avec une incidence de 1/10 000. Elle est liée à une mutation du gène TSC1 sur le chromosome 9 ou du gène TSC2 sur le chromosome 16 qui perturbe la sécrétion d’une protéine régulant la voie mTOR. C’est une maladie multisystème avec une expression clinique variable. Les principaux symptômes sont l’épilepsie, le retard mental et la présence d’adénomes sébacés, mais la maladie est associée à un polymorphisme clinique rendant le diagnostic difficile. La conférence de consensus de 2012 a ainsi défini des critères diagnostiques majeurs (lésions cutanées, oculaires, cérébrales, cardiaques, pulmonaires, rénales,..) et mineurs dont deux sont bucco-dentaires. Le diagnostic est retenu devant deux critères majeurs ou un critères majeur et deux critères mineurs. Les signes oraux sont la présence de trois ou plus puits d’émail et deux ou plus fibromes gingivaux. Les fibromes gingivaux atteindraient 50 à 70% des patients. La région antérieure maxillaire semble la plus touchée. L’exérèse est indiquée en cas de gêne esthétique ou de saignements associés. Actuellement, les inhibiteurs de mTOR représentent une option thérapeutique proposée dans la prise en charge des patients atteints de STB. La STB est une pathologie rare. La présence de lésions buccales fait partie des critères diagnostiques.
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Wang, Jiashi, Kevin Lai, Madelyn Light, Layla Katiraee, Kristina Giorda, Mirna Jarosz, Yun Bao, Criss Walworth, David Kupec et Caifu Chen. « Abstract 418 : Highly efficient duplex DNA tagging strategy improves accuracy of detecting ultra-low-frequency mutations through consensus read reconstruction ». Dans Proceedings : AACR Annual Meeting 2018 ; April 14-18, 2018 ; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-418.
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Bailey, Matthew H., Liang-Bo Wang, Wen-Wei Liang, Steven Foltz, Guanlan Dong, Michael C. Wendl, Michael McLellan et al. « Abstract 419 : Reproducibility assessment of mutations calls in exome- and whole-genome sequencing using consensus calling from TCGA and ICGC ». Dans Proceedings : AACR Annual Meeting 2018 ; April 14-18, 2018 ; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-419.
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Assis, Amilcar Alves, Mauro Passos, Rodrigo Kouzak, Karoline Evangelista et Natasha Caldas. « BREAST CANCER IN YOUNG PATIENTS : PROGNOSTIC AND PROFILE EPIDEMIOLOGICAL ANALYSIS IN A TERTIARY HOSPITAL ». Dans Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2093.
Texte intégralRésumé :
Breast cancer is the second most prevalent and first in mortality in Brazilian women. Its incidence has increased in recent years in all age groups. According to the Instituto Nacional do Câncer in 2019, 59,700 new cases of breast cancer are expected, with an estimated risk of 56.33 cases per 100 women. The diagnosis of breast cancer is more frequent in women after 50 years of age; it is estimated that only 25% of all cases occur in women below the age of 50 years; however, there was a literature consensus that tumors in this young age group have a worse prognosis, both because they are biologically more aggressive and because of affect women outside the screening age group in Brazil; thus, the rate of locally advanced disease at diagnosis in this age group is considerably higher. It is suggested that early onset breast cancer is related to different etiological factors, histopathological aspects, and clinical outcomes, as compared to postmenopausal breast cancer. Thus, age becomes an important prognostic factor. Since breast cancer is a curable pathology, the type of therapeutic approach also varies, with proposed treatment tends to be more aggressive. With the advent and increasing availability of genetic tests, predisposition of breast cancer has increased the number of indications for prophylactic mastectomies, especially in younger age groups or notably in patients with known pathological mutations in BRCA1 and BRCA2 genes. However, the literature is still controversial regarding its impact on overall survival. Breast cancer diagnosed before the age of 50 years is a behavioral disease, with prognosis and approach very different from that diagnosed in postmenopausal women. Therefore, it is important to know the profile of these patients to provide optimal treatment and achieve the best outcomes.