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Published in 2018 at "Leukemia"
DOI: 10.1038/leu.2017.183
Abstract: The molecular basis of advanced systemic mastocytosis (SM) is not fully understood and despite novel therapies the prognosis remains dismal. Exome sequencing of an index-patient with mast cell leukemia (MCL) uncovered biallelic loss-of-function mutations in…
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Keywords:
setd2 histone;
setd2;
systemic mastocytosis;
advanced systemic ... See more keywords
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Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000029561
Abstract: Background: Renal cell carcinoma (RCC) is a malignant tumor of urinary system, and clear cell RCC (ccRCC) is the major pathological subtype. A high-frequency mutation in SETD2 gene is related to the occurrence, development, and…
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Keywords:
cell;
cell carcinoma;
renal cell;
ccrcc ... See more keywords
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Published in 2022 at "Cancer Science"
DOI: 10.1111/cas.15299
Abstract: Lung adenocarcinoma (LUAD) is a major subtype of non–small‐cell lung cancer, which is the leading cause of cancer death worldwide. The histone H3K36 methyltransferase SETD2 has been reported to be frequently mutated or deleted in…
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Keywords:
tumor growth;
methyltransferase setd2;
lung adenocarcinoma;
lung ... See more keywords
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Published in 2020 at "Cancer Research"
DOI: 10.1158/1538-7445.am2020-1249
Abstract: Purpose: Glioblastoma (GBM) is a highly aggressive primary brain tumor. A major challenge in GBM treatment is tumor resistance to radiation and chemotherapy. An important hallmark of GBM is the frequent mutation of epigenetic modifiers…
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Keywords:
chemotherapy;
response;
gbm;
setd2 ... See more keywords
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Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-2599
Abstract: The SETD2 gene encodes a histone methyltransferase responsible for the trimethylation of histone 3 on lysine 36 (H3K36me3). While this canonic function plays a role in the regulation of cellular processes such as transcription, alternative…
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Keywords:
stf 62247;
cell cycle;
targeting setd2;
setd2 inactivated ... See more keywords
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Published in 2022 at "Cancer discovery"
DOI: 10.1158/2159-8290.cd-21-1514
Abstract: SETD2 is the sole histone methyltransferase responsible for H3K36me3, with roles in splicing, transcription initiation and DNA damage response. Homozygous disruption of SETD2 yields a tumor suppressor effect in various cancers. However, SETD2 mutation is…
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Keywords:
lymphomagenesis;
dna damage;
somatic hypermutation;
setd2 haploinsufficiency ... See more keywords
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Published in 2023 at "JCI Insight"
DOI: 10.1172/jci.insight.154120
Abstract: SETD2, a H3K36 trimethyltransferase, is the most frequently mutated epigenetic modifier in lung adenocarcinoma, with a mutation frequency of approximately 9%. However, how SETD2 loss of function promotes tumorigenesis remains unclear. Using conditional Setd2-KO mice,…
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Keywords:
tumorigenesis;
setd2 loss;
lung;
setd2 ... See more keywords
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Published in 2017 at "Blood"
DOI: 10.1182/blood-2017-03-775569
Abstract: Mutations in SETD2, encoding the histone 3 lysine 36 trimethyltransferase, are enriched in relapsed acute lymphoblastic leukemia and MLL-rearranged acute leukemia. We investigated the impact of SETD2 mutations on chemotherapy sensitivity in isogenic leukemia cell…
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Keywords:
chemotherapy;
dna damage;
resistance;
setd2 ... See more keywords
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Published in 2022 at "Journal of Cell Science"
DOI: 10.1242/jcs.259856
Abstract: ABSTRACT Cell size varies between cell types but is tightly regulated by cell intrinsic and extrinsic mechanisms. Cell size control is important for cell function, and changes in cell size are frequently observed in cancer.…
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Keywords:
cell;
histone;
cell size;
methyltransferase ... See more keywords
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Published in 2022 at "Human pathology"
DOI: 10.2139/ssrn.4247261
Abstract: With the advent of next-generation sequencing (NGS), identifying and better understanding genetic mutations in cancer pathways has become more feasible. A mutation now commonly reported in NGS panels is the SETD2 gene (H3K36 trimethyltransferase). However,…
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Keywords:
pathology;
h3k36;
mutation;
setd2 ... See more keywords