Evidence map›Paper›PMID 25698970›Full record

ArticleFrontiers in physiology2015

A genomic approach to study down syndrome and cancer inverse comorbidity: untangling the chromosome 21.

Jaume Forés-Martos, Raimundo Cervera-Vidal, Enrique Chirivella, Alberto Ramos-Jarero, Joan Climent

Open access · goldAbstract read
In one paragraph

Article in Frontiers in physiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
3.7field-weighted citation impact, top 7% 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

15 citing papers in PubMed, 58 citations in OpenAlex.

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  7. Comorbidity landscape of the Danish patient population affected by chromosome abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
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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

5 authors at 1 institution in 1 country.

Jaume Forés-MartosGenomics and Systems Biology (InGSB) Lab, Oncology and Hematology Department, Biomedical Research Institute INCLIVA Valencia, Spain.
Raimundo Cervera-VidalGenomics and Systems Biology (InGSB) Lab, Oncology and Hematology Department, Biomedical Research Institute INCLIVA Valencia, Spain.
Enrique ChirivellaGenomics and Systems Biology (InGSB) Lab, Oncology and Hematology Department, Biomedical Research Institute INCLIVA Valencia, Spain.
Alberto Ramos-JareroGenomics and Systems Biology (InGSB) Lab, Oncology and Hematology Department, Biomedical Research Institute INCLIVA Valencia, Spain.
Joan ClimentGenomics and Systems Biology (InGSB) Lab, Oncology and Hematology Department, Biomedical Research Institute INCLIVA Valencia, Spain.
INCLIVA Health Research Institute · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Down syndrome (DS), one of the most common birth defects and the most widespread genetic cause of intellectual disabilities, is caused by extra genetic material on chromosome 21 (HSA21). The increased genomic dosage of trisomy 21 is thought to be responsible for the distinct DS phenotypes, including an increased risk of developing some types of childhood leukemia and germ cell tumors. Patients with DS, however, have a strikingly lower incidence of many other solid tumors. We hypothesized that the third copy of genes located in HSA21 may have an important role on the protective effect that DS patients show against most types of solid tumors. Focusing on Copy Number Variation (CNV) array data, we have generated frequencies of deleted regions in HSA21 in four different tumor types from which DS patients have been reported to be protected. We describe three different regions of deletion pointing to a set of candidate genes that could explain the inverse comorbidity phenomenon between DS and solid tumors. In particular we found RCAN1 gene in Wilms tumors and a miRNA cluster containing miR-99A, miR-125B2 and miR-LET7C in lung, breast, and melanoma tumors as the main candidates for explaining the inverse comorbidity observed between solid tumors and DS.

Indexed as

BTG3cancer genomicsChr. 21p11down syndromeinverse comorbidityRCAN1

Identifiers

PMID25698970
PMCPMC4316712
OpenAlexW1975422661

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.