Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor.

American journal of human genetics - 1 Dec 2022

Derrien Anne-Céline, Houy Alexandre, Ganier Olivier, Dingli Florent, Ningarhari Massih, Mobuchon Lenha, Espejo Díaz María Isabel, Loew Damarys, Cassoux Nathalie, Cussenot Olivier, Cancel-Tassin Géraldine, Margueron Raphael, Noirel Josselin, Zucman-Rossi Jessica, Rodrigues Manuel, Stern Marc-Henri

Abstract excerpt

The TERT/CLPTM1L risk locus on chromosome 5p15.33 is a pleiotropic cancer risk locus in which multiple independent risk alleles have been identified, across well over ten cancer types. We previously conducted a genome-wide association study in uveal melanoma (UM), which uncovered a role for the TERT/CLPTM1L risk locus in this intraocular tumor and identified multiple highly correlated risk alleles. Aiming to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocytes, Mononuclear

Share to Melanoma

Share to Uveal Melanoma

Share to Uveal Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 36459980
DOI: 10.1016/j.ajhg.2022.11.004
PMCID: PMC9748249

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor.PMID 36459980Read ↗

Functional analysis of recurrent non-coding variants in human melanomaSemantic proximity Read ↗

Meta-Analysis of Rare Cancers Leveraging Clinically Ascertained Cohorts Reveals Novel Germline Susceptibility LociSemantic proximity Read ↗

Uveal and cutaneous melanoma share a common mutation with distinct prognostic implications: A bioinformatic studySemantic proximity Read ↗

Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma.Semantic proximity Read ↗

Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database.Semantic proximity Read ↗

Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal MelanomasSemantic proximity Read ↗

Functional analysis of recurrent CDC20 promoter variants in human melanoma.Semantic proximity Read ↗

Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.Semantic proximity Read ↗

The potential prognostic and immunological roles of N7-methylguanosine (m7G) in uveal melanomaSemantic proximity Read ↗

Melanoma-specific mutation hotspots in distal, non-coding, promoter-interacting regions implicate novel candidate driver genes.Semantic proximity Read ↗

Epigenetic activation of a cryptic TBC1D16 transcript enhances melanoma progression by targeting EGFRSemantic proximity Read ↗

Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.