Evidence map›Paper›PMID 30039904›Full record

ArticlePediatric blood & cancer2018

A genome-wide analysis of colorectal cancer in a child with Noonan syndrome.

Rahul M Prasad, Rajen J Mody, George Myers, Melisa Mullins, Zaher Naji, James D Geiger

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric blood & cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 52% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Review
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

6 authors at 2 institutions in 1 country.

Rahul M PrasadDepartment of Surgery, The University of Toledo College of Medicine and Life Sciences, Toledo, Ohio.ORCID 0000-0003-0636-9370
Rajen J ModyDivision of Pediatric Hematology/Oncology, Department of Pediatrics, C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan.ORCID 0000-0001-5574-1779
George MyersMercy St. Vincent Medical Center, Toledo, Ohio.
Melisa MullinsMercy St. Vincent Medical Center, Toledo, Ohio.
Zaher NajiMercy St. Vincent Medical Center, Toledo, Ohio.
James D GeigerSection of Pediatric Surgery, Department of Surgery, C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan.
Mercy St. Vincent Medical Center · USUniversity of Michigan · US

Funding

Sequencing, Analysis, and Interpretation of SequencingUM1HG006508 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI CHINNAIYAN, ARUL M, PIENTA, KENNETH J. · 2013 to 2016
$7.8M
Comprehensive Cancer Center, University of MichiganNHGRI NIH HHS UM1 HG006508Prostate Cancer Research & Education Foundation
6 · The paper itself

Abstract

Noonan syndrome (NS) is a developmental syndrome caused by germline mutations in the Ras signaling pathway. No association has been shown between NS and pediatric colorectal cancer (CRC). We report the case of CRC in a pediatric patient with NS. The patient underwent whole genome sequencing. A germline SOS1 mutation c.1310T>C (p. Ile437Thr) confirmed NS diagnosis. No known hereditary cancer syndromes were identified. Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*). This report highlights the complexity of Ras signaling and the interplay between developmental syndromes and cancer.

Indexed as

AdolescentColorectal NeoplasmsFemaleGenome-Wide Association StudyGerm-Line MutationHumansNoonan SyndromeNuclear Receptor Co-Repressor 1SOS1 ProteinTumor Suppressor Protein p53NCOR1 protein, humanNuclear Receptor Co-Repressor 1SOS1 ProteinTP53 protein, humanTumor Suppressor Protein p53molecular geneticsNoonan syndromepediatric hematology/oncologyrare tumorssolidtumors

Identifiers

PMID30039904
PMCPMC6150814
OpenAlexW2883868499

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.