Tert Promoter Mutation Hotspot

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TERT telomerase reverse transcriptase [ (human)]

(2 months ago) In melanoma, TERT promoter hotspot -146C>T and -138/-139CC>TT mutations, similar to the -124C>T mutation, correlate with TERT overexpression. this study demonstrates that human telomerase rapidly diffuses through the nucleus, avoiding nucleoli, in a three-dimensional search for telomeres.

https://www.ncbi.nlm.nih.gov/gene/7015

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Comprehensive and Integrative Genomic Characterization of ...

(7 days ago) TERT promoter mutations were the most common somatic mutation, found in 87 of 196 (44%) HCCs analyzed in the TERT promoter region (Figure S1A, Table S3). Two independent TERT promoter mutations (chr5, 1,295,228 G>A (C228T) and 1,295,250 G>A (C250T) were found, consistent with activating mutations previously reported (Horn et al., 2013).

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680778/

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Timing the Landmark Events in the Evolution of Clear Cell ...

(5 days ago) As predicted, samples with the canonical TERT promoter mutations and indeed those with 5′ UTR mutations did, on average, have longer telomeres than wild-type samples (p = 0.031 and p = 0.0026, respectively) (Figure 2B, Table S5). Thus, 5′ UTR hotspot mutations presumably act through lengthening telomeres to promote replicative immortality.

https://www.sciencedirect.com/science/article/pii/S0092867418301648

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Enhancer release and retargeting activates disease ...

(8 days ago) For example, ‘mutation: CLPTM1L –> TERT’ (the fourth row) indicates that TERT is an oncogene listed in COSMIC, and the gene promoter of CLPTM1L was identified as an ONP, which contains ...

https://www.nature.com/articles/s41586-021-03577-1

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AWMGS - Which genetic test do you require?

(2 days ago) Single gene sequencing >=10 amplicons MLPA, Targeted Mutation Testing: SERPING1, F12, PLG, ANGPT1: Haemochromatosis (HFE) R95: Haematology: Targeted mutation testing: HFE common variants: Huntington Disease (HD) R68: Neurology: STR testing: HTT STR: Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) R210, M1.4: Oncology ...

https://medicalgenomicswales.co.uk/index.php/health-professional-information/a-z-of-services

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Sanger Sequencing - an overview | ScienceDirect Topics

(2 days ago) TERT promoter region containing the c.-124C and c.-146C hotspots upstream of the ATG translational start site that are frequently mutated in IDH-wildtype glioblastoma in adults, IDH-mutant and 1p/19-codeleted oligodendroglioma, anaplastic (malignant) meningioma, and other tumor entities.

https://www.sciencedirect.com/topics/neuroscience/sanger-sequencing

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OMIM Entry - * 191170 - TUMOR PROTEIN p53; TP53

(6 days ago) The HOXA5 promoter region was methylated in 16 of 20 p53-negative breast tumor specimens. Raman et al. ... both mutability on the DNA level and altered function of the mutant ser249 p53 protein are responsible for the observed mutation hotspot. To investigate the role of AFB1 and of the AGG-to-AGT mutation at codon 249 in ...

https://www.omim.org/entry/191170

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Genetics of Skin Cancer (PDQ®)–Health Professional Version ...

(1 days ago) Introduction. Basal cell carcinoma (BCC) is the most common malignancy in people of European descent, with an associated lifetime risk of 30%.[] While exposure to ultraviolet (UV) radiation is the risk factor most closely linked to the development of BCC, other environmental factors (such as ionizing radiation, chronic arsenic ingestion, and immunosuppression) and genetic factors (such as ...

https://www.cancer.gov/types/skin/hp/skin-genetics-pdq

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Genomic and evolutionary classification of lung cancer in ...

(4 days ago) SVs were enriched in hotspot regions, including MDM2, TERT, 6p21 ... TERT was amplified in only 11.6% tumors and had promoter mutations ... Mutation probabilities for each mutation type in each ...

https://www.nature.com/articles/s41588-021-00920-0

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Childhood Astrocytomas Treatment (PDQ®)–Health ...

(7 days ago) Treatment options for children with astrocytomas include observation, surgery, chemotherapy, radiation therapy, and targeted therapy. Get detailed information about the treatment of newly diagnosed and recurrent childhood astrocytomas in this summary for clinicians.

https://www.cancer.gov/types/brain/hp/child-astrocytoma-treament-pdq

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EZH2: a novel target for cancer treatment | Journal of ...

(2 days ago) Enhancer of zeste homolog 2 (EZH2) is enzymatic catalytic subunit of polycomb repressive complex 2 (PRC2) that can alter downstream target genes expression by trimethylation of Lys-27 in histone 3 (H3K27me3). EZH2 could also regulate gene expression in ways besides H3K27me3. Functions of EZH2 in cells proliferation, apoptosis, and senescence have been identified.

https://jhoonline.biomedcentral.com/articles/10.1186/s13045-020-00937-8

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グリオーマ glioma 神経膠腫 | 脳外科医 澤村豊のホームページ

(7 days ago) 注意! グリオーマ(神経膠腫 しんけいこうしゅ)は病名ではありません グリオーマ(神経膠腫)は脳腫瘍の2割くらいを占める腫瘍です どの国でも,10万人に6人程度の発生率で,男性は女性の1.6倍です 悪性腫瘍が多いです 脳 […]

https://plaza.umin.ac.jp/sawamura/glioma/sum/

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星細胞腫 IDH変異型 astroytoma IDH-mutant WHO grade 2, 3, 4,びまん性星 ...

(3 days ago) 星細胞腫 2021年who分類 もっとも大きな変更点は,組織診断でのびまん性星細胞腫 が 星細胞腫idh変異型グレード2, 3, 4となり,退形成性星細胞腫の病名が消えたことです。 成人びまん性グリオーマ 2021年分類 […]

https://plaza.umin.ac.jp/sawamura/glioma/diffuseastrocytoma/

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