Evidence map›Paper›PMID 29194591›Full record

ArticleCancer2018

A mutational comparison of adult and adolescent and young adult (AYA) colon cancer.

James V Tricoli, Lisa A Boardman, Rajesh Patidar, Sivasish Sindiri, Jin S Jang, William D Walsh, Paul M McGregor, Corinne E Camalier, Michele G Mehaffey, Wayne L Furman and 5 more

Registry-linked trialOpen access · greenAbstract readComparative Study
In one paragraph

Article in Cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04533555 (Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer), which is not on this map. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
4.3field-weighted citation impact, top 5% 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.

NCT04533555 nacompletednot on this mapstarted 2020, after this paper: background citation

Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer

TypeinterventionalSponsorUniversity of PennsylvaniaRan2020 to 2025Enrolled749ConditionsCancerArmsBroad gene panel for young adult cancers, Standard
3 · Its place in the literature

Who cites it

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Early Onset Colorectal Cancer: Molecular Underpinnings Accelerating Occurrence.Cellular and molecular gastroenterology and hepatology · 2025
    Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Molecular genetics of early-onset colorectal cancer.World journal of biological chemistry · 2023
    Review
  20. 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

15 authors at 4 institutions in 1 country.

James V TricoliDivision of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, Maryland.ORCID 0000-0003-3975-8516
Lisa A BoardmanDepartment of Internal Medicine, Mayo Clinic, Rochester, Minnesota.ORCID 0000-0002-1330-2054
Rajesh PatidarCenter for Cancer Research, National Cancer Institute, Bethesda, Maryland.
Sivasish SindiriCenter for Cancer Research, National Cancer Institute, Bethesda, Maryland.
Jin S JangDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
William D WalshMolecular Characterization and Assay Development Laboratory, Leidos, Frederick, Maryland.
Paul M McGregorMolecular Characterization and Assay Development Laboratory, Leidos, Frederick, Maryland.
Corinne E CamalierMolecular Characterization and Assay Development Laboratory, Leidos, Frederick, Maryland.
Michele G MehaffeyMolecular Characterization and Assay Development Laboratory, Leidos, Frederick, Maryland.
Wayne L FurmanDepartment of Hematology/Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Armita BahramiDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
P Mickey WilliamsMolecular Characterization and Assay Development Laboratory, Leidos, Frederick, Maryland.
Chih-Jian LihMolecular Characterization and Assay Development Laboratory, Leidos, Frederick, Maryland.
Barbara A ConleyDivision of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, Maryland.
Javed KhanCenter for Cancer Research, National Cancer Institute, Bethesda, Maryland.
Leidos (United States) · USNational Cancer Institute · USMayo Clinic · USSt. Jude Children's Research Hospital · US

Funding

BIOINFORMATICS: SYSTEMS BIOLOGY OF PEDIATRIC CANCERSZIABC011002 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI KHAN, JAVED · 2009 to 2025
$9.3M
Intramural NIH HHS Z99 CA999999
6 · The paper itself

Abstract

backgroundIt is possible that the relative lack of progress in treatment outcomes among adolescent and young adult (AYA) patients with cancer is caused by a difference in disease biology compared with the corresponding diseases in younger and older individuals. There is evidence that colon cancer is more aggressive and has a poorer prognosis in AYA patients than in older adult patients.

methodsTo further understand the molecular basis for this difference, whole-exome sequencing was conducted on a cohort of 30 adult, 30 AYA, and 2 pediatric colon cancers.

resultsA statistically significant difference in mutational frequency was observed between AYA and adult samples in 43 genes, including ROBO1, MYC binding protein 2 (MYCBP2), breast cancer 2 (early onset) (BRCA2), MAP3K3, MCPH1, RASGRP3, PTCH1, RAD9B, CTNND1, ATM, NF1; KIT, PTEN, and FBXW7. Many of these mutations were nonsynonymous, missense, stop-gain, or frameshift mutations that were damaging. Next, RNA sequencing was performed on a subset of the samples to confirm the mutations identified by exome sequencing. This confirmation study verified the presence of a significantly greater frequency of damaging mutations in AYA compared with adult colon cancers for 5 of the 43 genes (MYCBP2, BRCA2, PHLPP1, TOPORS, and ATR).

conclusionsThe current results provide the rationale for a more comprehensive study with a larger sample set and experimental validation of the functional impact of the identified variants along with their contribution to the biologic and clinical characteristics of AYA colon cancer. Cancer 2018;124:1070-82. © 2017 American Cancer Society.

Indexed as

MutationAdolescentAdultAgedAged, 80 and overColonColonic NeoplasmsExome SequencingFemaleGene Expression ProfilingGene FrequencyGenetic Predisposition to DiseaseHumansMaleMiddle AgedYoung Adultadolescent and young adult (AYA)colon cancerexome sequencingmutationRNA sequencing (RNASeq)

Identifiers

PMID29194591
PMCPMC5821537
OpenAlexW2771267706

What OpenQuestion holds

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Registered trials

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.