TERT Promoter Mutations in Familial and Sporadic Melanoma

By S. Horn, A. Figl, P. S. Rachakonda, C. Fischer, A. Sucker, Andreas Gast, S. Kadel, Iris Moll, E. Nagore, Kari Hemminki and 2 more. Science, 2013

1,780 citations recorded by the source corpus.

Subfields: Molecular Biology, Physiology

View Paper: https://www.semanticscholar.org/paper/473a64791b21e25c8b78fc64ea10cd26e4a6c1f9

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Molecular Biology

In Physiology

Citations in the corpus

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics (2013, background): “Recently, three studies reported noncoding driver mutations in the TERT promoter in multiple tumor types, including melanomas and gliomas (10-12).”
Molecular profiling reveals biologically discrete subsets and pathways of progression in diffuse glioma (2016, neutral): “TERTp mutations activate TERT mRNA expression through the creation of a de novo ETS transcription factor-binding site (Horn et al., 2013) and we observed significant TERT upregulation in TERTp mutant cases (p-value 0.0001, Figure S1A).”
Genomic Classification of Cutaneous Melanoma (2015, background): “TERT Promoter Mutations We confirmed mutually exclusive TERT promoter mutations C228T and C250T (Horn et al., 2013; Huang et al., 2013) in 23.”
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal (2013, background): “Melanomas and tumors of the lung, stomach, and esophagus were excluded, because they had already been adequately evaluated in the seminal papers cited (14, 15).”
Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma (2017, neutral): “were associated with familial melanoma (Horn et al., 2013), but a germline mutation at position C228T has not been reported.”
OncodriveFML: a general framework to identify coding and non-coding regions with cancer driver mutations (2016, background): “Activating mutations in TERT promoter have been found as drivers in multiple types of cancer [12, 21, 22].”
BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence. (2014, background): “TERT C228T confers increased transcriptional activities of the TERT promoter by creating consensus binding motifs (GGA[A T] or CCGGAA) for E-twenty-six (ETS)/ternary complex transcription factors.(22,23) As activation of the mitogen-activated protein kinase pathway upregulates the ETS system,(24-26)”
BRD4 and Cancer: going beyond transcriptional regulation (2018, background): “These mutations (− 124 bp C > T and -146 bp C > T upstream the TSS) represent the most prevalent non-coding alterations in cancer and create aberrant binding sites for E-Twenty-Six (ETS) TFs within the promoter, leading to increased TERT expression [77, 78].”
Transcriptional Regulation and its Misregulation in Disease (2013, neutral): “…DNA and breast cancer (Jiang et al., 2011), prostate cancer (Demichelis et al., 2012), colorectal cancer (Lubbe et al., 2012), renal cancer (Schodel et al., 2012), lung cancer (Liu et al., 2011), nasopharyngeal cancer (Yew et al., 2012) and melanoma (Huang et al., 2013; Horn et al., 2013).”
FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer (2014, background): “Meanwhile, gain of new binding sites caused by somatic mutations can constitute driver events [7-10].”
Frequency of TERT promoter mutations in human cancers (2013, background): “The frequency of TERT mutations we detected in skin melanomas is similar to that reported by Horn et al.1 in primary melanomas (33%), but lower than the frequency found by the same authors in metastatic melanomas (85”