Evidence map›Paper›PMID 38902506›Full record

ReviewCellular and molecular life sciences : CMLS2024

Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.

Sandra Iñiguez-Muñoz, Pere Llinàs-Arias, Miquel Ensenyat-Mendez, Andrés F Bedoya-López, Javier I J Orozco, Javier Cortés, Ananya Roy, Karin Forsberg-Nilsson, Maggie L DiNome, Diego M Marzese

Abstract readReview
In one paragraph

Review in Cellular and molecular life sciences : CMLS, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Sandra Iñiguez-MuñozCancer Epigenetics Laboratory at the Cancer Cell Biology Group, Institut d'Investigació Sanitària Illes Balears (IdISBa), Palma, Spain.
Pere Llinàs-AriasCancer Epigenetics Laboratory at the Cancer Cell Biology Group, Institut d'Investigació Sanitària Illes Balears (IdISBa), Palma, Spain.
Miquel Ensenyat-MendezCancer Epigenetics Laboratory at the Cancer Cell Biology Group, Institut d'Investigació Sanitària Illes Balears (IdISBa), Palma, Spain.
Andrés F Bedoya-LópezCancer Epigenetics Laboratory at the Cancer Cell Biology Group, Institut d'Investigació Sanitària Illes Balears (IdISBa), Palma, Spain.
Javier I J OrozcoSaint John's Cancer Institute, Providence Saint John's Health Center, Santa Monica, CA, USA.
Javier CortésInternational Breast Cancer Center (IBCC), Pangaea Oncology, Quiron Group, 08017, Barcelona, Spain.
Ananya RoyDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Karin Forsberg-NilssonDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Maggie L DiNomeDepartment of Surgery, Duke University School of Medicine, Durham, NC, USA.
Diego M MarzeseCancer Epigenetics Laboratory at the Cancer Cell Biology Group, Institut d'Investigació Sanitària Illes Balears (IdISBa), Palma, Spain. dmarzese@gmail.com.ORCID http://orcid.org/0000-0002-3258-8852

Funding

Fundación Científica Asociación Española Contra el Cáncer #PRDBA19004MARZFundación CONTIGO Contra el Cancer de Mujer #MERITGovern de les Illes Balears #FPI/037/2021Instituto de Salud Carlos III #CD22/00026Instituto de Salud Carlos III #CP17/00188Instituto de Salud Carlos III #I19/01514
6 · The paper itself

Abstract

Discoveries in the field of genomics have revealed that non-coding genomic regions are not merely "junk DNA", but rather comprise critical elements involved in gene expression. These gene regulatory elements (GREs) include enhancers, insulators, silencers, and gene promoters. Notably, new evidence shows how mutations within these regions substantially influence gene expression programs, especially in the context of cancer. Advances in high-throughput sequencing technologies have accelerated the identification of somatic and germline single nucleotide mutations in non-coding genomic regions. This review provides an overview of somatic and germline non-coding single nucleotide alterations affecting transcription factor binding sites in GREs, specifically involved in cancer biology. It also summarizes the technologies available for exploring GREs and the challenges associated with studying and characterizing non-coding single nucleotide mutations. Understanding the role of GRE alterations in cancer is essential for improving diagnostic and prognostic capabilities in the precision medicine era, leading to enhanced patient-centered clinical outcomes.

Indexed as

MutationNeoplasmsGene Expression Regulation, NeoplasticGenome, HumanHumansRegulatory Sequences, Nucleic AcidTranscription FactorsTranscription FactorsEnhancersInsulatorsPromotersSilencersSingle nucleotide polymorphismsSingle nucleotide variants

Identifiers

PMID38902506
PMCPMC11335195

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.