Evidence map›Paper›PMID 35575002›Full record

SynthesisCancer medicine2022

A practical framework RNMF for exploring the association between mutational signatures and genes using gene cumulative contribution abundance.

Zhenzhang Li, Haihua Liang, Shaoan Zhang, Wen Luo

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Cancer medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 40% of its field
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 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  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

4 authors at 2 institutions in 1 country.

Zhenzhang LiCollege of Mathematics and Systems Science, Guangdong Polytechnic Normal University, Guangzhou, China.
Haihua LiangCollege of Mathematics and Systems Science, Guangdong Polytechnic Normal University, Guangzhou, China.
Shaoan ZhangCollege of Mathematics and Systems Science, Guangdong Polytechnic Normal University, Guangzhou, China.
Wen LuoCollege of Mathematics and Systems Science, Guangdong Polytechnic Normal University, Guangzhou, China.
Guangdong Polytechnic Normal University · CNGuangzhou Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMutational signatures are somatic mutation patterns enriching operational mutational processes, which can provide abundant information about the mechanism of cancer. However, understanding of the pathogenic biological processes is still limited, such as the association between mutational signatures and genes.

methodsWe developed a simple and practical R package called RNMF (https://github.com/zhenzhang-li/RNMF) for mutational signature analysis, including a key model of cumulative contribution abundance (CCA), which was designed to highlight the association between mutational signatures and genes and then applying it to a meta-analysis of 1073 individuals with esophageal squamous cell carcinoma (ESCC).

resultsWe revealed a number of known and previously undescribed SBS or ID signatures, and we found that APOBEC signatures (SBS2* and SBS13*) were closely associated with PIK3CA mutation, especially the E545k mutation. Furthermore, we found that age signature is closely related to the frequent mutation of TP53, of which R342* is highlighted due to strongly linked to age signature. In addition, the CCA matrix image data of genes in the signatures New, SBS3*, and SBS17b* were helpful for the preliminary evaluation of shortened survival outcome. These results can be extended to estimate the distribution of mutations or features, and study the potential impact of clinical factors.

conclusionsIn a word, RNMF can successfully achieve the correlation analysis of mutational signatures and genes, proving a strong theoretical basis for the study of mutational processes during tumor development.

Indexed as

Esophageal NeoplasmsEsophageal Squamous Cell CarcinomaNeoplasmsHumansMutationcumulative contribution abundanceesophageal squamous cell carcinomamutational signatureRNMF

Identifiers

PMID35575002
PMCPMC9636515
OpenAlexW4280533574

What OpenQuestion holds

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Registered trials

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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 OpenQuestion graph.