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Published in 2024 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2023.6287
Abstract: Key Points Question Can rare germline genetic variants be used to discriminate between interval and screen-detected breast cancer? Findings In this genetic association study of 4121 patients with cancer and 5631 healthy controls, protein-truncating variants…
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Keywords:
cancer;
breast cancer;
genetic alterations;
investigation genetic ... See more keywords
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Published in 2020 at "Molecular Oncology"
DOI: 10.1002/1878-0261.12813
Abstract: Metaplastic breast carcinoma (MBC) and uterine carcinosarcoma (UCS) are rare aggressive cancers, characterized by an admixture of adenocarcinoma and areas displaying mesenchymal/sarcomatoid differentiation. We sought to define whether MBCs and UCSs harbor similar patterns of…
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Keywords:
mbcs ucss;
genetic alterations;
metaplastic breast;
alterations affecting ... See more keywords
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Published in 2017 at "Brain and Behavior"
DOI: 10.1002/brb3.718
Abstract: This study evaluates the presence of R132H mutation in isocitrate dehydrogenase (IDH1) gene and the vascular endothelial growth factor (VEGF) +936 C/T polymorphism in brain tumors. The impact of these genetic alterations on overall survival…
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Keywords:
vegf brain;
idh1 vegf;
genetic alterations;
alterations idh1 ... See more keywords
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Published in 2019 at "Genes"
DOI: 10.1002/gcc.22700
Abstract: Accurate diagnosis of sarcomas relies on the integration of clinical, histopathological and molecular features. Our understanding of the latter has increased dramatically in recent years with the application of high‐throughput sequencing. Concomitantly, the role of…
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Keywords:
recurrent genetic;
genetic alterations;
correlates recurrent;
alterations sarcomas ... See more keywords
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Published in 2024 at "Genes"
DOI: 10.1002/gcc.23268
Abstract: Angiosarcomas of the kidney and adrenal gland are rare, highly aggressive vascular neoplasms. Their genomic profile has not been systematically studied to date. We report the clinicopathologic and molecular features of six angiosarcomas centered in…
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Keywords:
recurrent genetic;
genetic alterations;
adrenal gland;
high frequency ... See more keywords
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Published in 2019 at "International Journal of Cancer"
DOI: 10.1002/ijc.32228
Abstract: Genetic alterations are the starting point leading to numerous changes in clinical and pathologic features (phenotypes) of individual cancers; however, their inter‐relationships in gastric cancers (GC) are unclear. We performed massive parallel sequencing of 381…
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Keywords:
gastric carcinoma;
genomics phenomics;
bridging genomics;
genetic alterations ... See more keywords
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Published in 2021 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-1278-1_8
Abstract: In non-small cell lung cancer (NSCLC), mutation detection and fusion gene status are treatment predictive and, hence, key factors in clinical management. Lately, alternate splicing variants of MET have gained focus as NSCLC tumors harboring…
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Keywords:
detection;
nanostring gene;
gene expression;
genetic alterations ... See more keywords
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Published in 2020 at "Journal of Molecular Medicine"
DOI: 10.1007/s00109-020-01944-5
Abstract: Acute myeloid leukemia (AML) is an extremely heterogeneous disease defined by the clonal growth of myeloblasts/promyelocytes not only in the bone marrow but also in peripheral blood and/or tissues. Gene mutations and chromosomal abnormalities are…
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Keywords:
medicine;
myeloid leukemia;
molecular targeted;
genetic alterations ... See more keywords
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Published in 2018 at "Virchows Archiv"
DOI: 10.1007/s00428-018-2305-5
Abstract: Ameloblastoma is a mostly benign, but locally invasive odontogenic tumor eliciting frequent relapses and significant morbidity. Recently, mutually exclusive mutations in BRAF and SMO were identified causing constitutive activation of MAPK and hedgehog signaling pathways.…
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Keywords:
ameloblastomas relates;
relates clinical;
clinical features;
genetic alterations ... See more keywords
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Published in 2018 at "Molecular Biology Reports"
DOI: 10.1007/s11033-018-4161-4
Abstract: Neuroblastoma (NB) is the most common extracranial solid tumor in childhood. This malignancy shows a wide spectrum of clinical outcome and its prognosis is conditioned by manifold biological and genetic factors. We investigated the tumor…
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Keywords:
risk;
major genetic;
mlpa;
investigation major ... See more keywords
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Published in 2020 at "Cancer cell"
DOI: 10.1016/j.ccell.2020.04.008
Abstract: Interactions between germinal center B cells and immune cells in the microenvironment can play integral roles in transformation and growth of follicular lymphoma (FL). Three recent studies, two in this issue of Cancer Cell and…
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Keywords:
follicular lymphoma;
genetic alterations;
immune microenvironment;
impact immune ... See more keywords