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Showing 10 out of a total of 75 results for community: Atlas of Genetics and Cytogenetics in Oncology and Haematology - 2017. (0.01 seconds)
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(ARMGHM - Atlas Génétique des Cancers, 2017)Kallikreins (KLKs) represent the largest cluster of serine peptidases, which is composed of 15 members (KLK1-15). The human kallikrein-related peptidase 9 gene (KLK9), like the rest of the KLK genes, encodes for a trypsin-like serine peptidase. Serine peptidases are a group of protein-cleaving enzymes that contain a serine residue in their active site. Kallikreins constitute a subfamily of serine peptidases that cleave kininogen and release vasoactive peptides (kinins). The human KLK9 gene is located at 19q13.41 and consists of 5 exons and 4 intervening introns. Although KLK9 expression has been detected in various normal human tissues, differences in mRNA and protein expression levels have been observed. Like other KLKs, KLK9 is found differentially expressed in multiple human malignancies. Clinical studies regarding the KLK9 expression analysis in breast cancer tissues have demonstrated that KLK9 mRNA expression possesses significant prognostic ability and therefore could be a strong, independent marker of favorable prognosis in patients with breast cancer. In addition, the prognostic potential of the KLK9 mRNA expression levels in ovarian cancer has been clarified, since patients with KLK9-positive tumors demonstrate significantly longer progression-free and overall survival in comparison with KLK9-negative patients. Finally, KLK9 could serve as a prognostic biomarker for patients diagnosed with high-grade astrocytoma, as its expression level is associated with decreased survival of patients. Although the precise localization and structure of the KLK9 gene has now been fully characterized, its functional roles and connections to human diseases are still incompletely understood and merit further investigation....
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(ARMGHM - Atlas Génétique des Cancers, 2017)Although T-cell/histiocyte rich large B-cell lymphoma (THRLBCL) is an aggressive diffuse large B-cell lymphoma (DLBCL), its morphology can resemble nodular lymphocyte predominant Hodgkin lymphoma (NLPHL). These two entities are closely related: both diseases contain neoplastic cells with similar morphologic and immunophenotypic features but differ with respect to their architecture and the nature of the reactive background. Due to the overlapping features between THRLBCL and NLPHL, it is sometimes impossible to distinguish these two entities; thus, ""grey zone"" lymphoma is used to define some of those cases. Because of the morphologic and immunophenotypic similarities between THRLBCL and NLPHL, it is possible that these two entities may represent different stages of the same disease. A possible biological relation of THRLBCL with NLPHL has been suggested. Overlapping recurrent genetic abnormalities (gain of 4q and loss of 19p) might be the genetic link between THRLBCL and NLPHL....
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(ARMGHM - Atlas Génétique des Cancers, 2017)Kallikreins (KLKs) constitute a family of 15 homologous secreted serine proteases (KLK1-15), which participate in numerous physiological procedures. All KLKs are encoded by the largest contiguous cluster of protease genes in the human genome (19q13.3-13.4). In specific, the human KLK13 gene spans a region of 8905 nucleotides, comprises 5 exons and 4 intervening introns and produces a single mRNA transcript that encodes KLK13 precursor protein. Like the rest of the KLK genes, KLK13 gene encodes for a trypsin-like serine peptidase, the functions of which are still unclear. KLK13 expression has been detected in a variety of human tissues and is found to be associated with several types of cancer. Evidence has showed that KLK13 can be an independent biomarker of favorable prognosis in breast cancer patients and may potentially be able to identify patients likely to benefit from hormonal treatment. In addition, major prognostic abilities of KLK13 have been confirmed in nonsmall cell lung cancer as well as gastric cancer, as patients with KLK13 overexpression demonstrated significantly longer overall (OS) and disease-free survival (DFS) accordingly. Although the precise localization and structure of the KLK13 gene has now been fully identified, its functional roles and implication mechanisms to human malignancies are still not conveniently understood and merit further investigation....
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(ARMGHM - Atlas Génétique des Cancers, 2017)Forty five cases carrying the t(2;11)(p21;q23) have been reported in the literature, mostly in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Some of these cases involve rearrangements of the the MLL gene (also known as KMT2A), on 11q23, which confers a more aggressive behavior in myeloid neoplasms. Several individual case reports, as well as series such as 19 cases reported by Bousquet et al., 2008 and 7 cases by Dvorak et al., 2014, describe myeloid neoplasms carrying the t(2;11)(p21;q23) without an MLL gene rearrangement, with possible prognostic implications. The authors of this paper describe two additional cases from their institution....
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(ARMGHM - Atlas Génétique des Cancers, 2017)Review on t(1;12)(p36;p13) translocations, with data on clinics, and the genes involved....
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(ARMGHM - Atlas Génétique des Cancers, 2017)This CARD addresses the following questions: 1) how should in situ follicular neoplasia be defined and diagnosed? and 2) how should people/patients with in situ follicular neoplasia be managed?...
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(ARMGHM - Atlas Génétique des Cancers, 2017)Review on t(1;7)(p36;p12) translocations, with data on clinics, and the genes involved....
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(ARMGHM - Atlas Génétique des Cancers, 2017)Review on t(7;12)(q36;p13), with data on clinics, and the genes involved....
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(ARMGHM - Atlas Génétique des Cancers, 2017)Review on t(1;3)(p36;q21) PSMD2/PRDM16 ???...
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(ARMGHM - Atlas Génétique des Cancers, 2017)Fanconi anemia (FA) is a rare human recessive syndrome featuring bone marrow failure, myelodysplasia, and predisposition to cancer as well as chromosome fragility and hypersensitivity to DNA interstrands crosslinking agents. FA was described in 1927 by the Swiss pediatrician Giuseppe Fanconi, which reported a first family with three affected sibling presenting developmental defects and anemia. FA cells are hypersensitive, at both cellular and chromosomal levels, to the exposure to DNA interstrands crosslinking agents, like mitomycin C, diepoxybutane, cis-platinum or photoactivated psoralen. The chromosomal response to DNA interstrands crosslinks (ICLs)-inducing agents is so typical that the observation of both the induced frequency of chromosome aberrations and their type, i.e. tri- and quadri-radials, is considered the best diagnostic criteria for FA. Indeed, looking simply at the clinical hallmarks of the patients, it is difficult to distinguish FA patients from several other bone marrow failure syndromes. Alternatively, since the FA cells need more time to pass through both G2 and S phases than normal cell, the analysis by flow cytometry of the over accumulation of the FA cells in G2 following exposure to ICL-inducing agents could be a useful approach for diagnosis. More recently, molecular and biochemical approaches looking at gene mutations, proteins expression and/or post-translational modifications are used to validate cytogenetics conclusions. To date 19 different genes (FANC) have been associated to FA. The FANC proteins constitute a pathway which essential function is to deal with replication stress assuring the transmission of a stable genome from one cell to the daughters and acting both during replication, to cope with stalled replication forks, but also in G2 and M phases, to resolve un-replicated or not fully replicated regions before telophase. For review: Duxin and Walter, 2015; Bogliolo and Surralles, 2015; Walden and Deans, 2014; Soulier 2011; Lobitz and Velleuer, 2006....