Evidence map›Paper›PMID 23255406›Full record

ArticlePediatric blood & cancer2013

Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.

Bradford C Powell, Lichun Jiang, Donna M Muzny, Lisa R Treviño, Zoann E Dreyer, Louise C Strong, David A Wheeler, Richard A Gibbs, Sharon E Plon

Abstract readCase Reports
In one paragraph

Article in Pediatric blood & cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
2.9field-weighted citation impact, top 9% 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

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.

  1. A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020
    Pooled it
  2. Review
  3. Review
  4. EJHaem · 2024
    Article
  5. Article
  6. Article
  7. Li-Fraumeni syndrome heterogeneity.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020
    Review
  8. Article
  9. Next-Generation Sequencing in Acute Lymphoblastic Leukemia.International journal of molecular sciences · 2019
    Review
  10. Article
  11. Review
  12. Cold Spring Harbor perspectives in medicine · 2017
    Review
  13. Discussing and managing hematologic germ line variants.Hematology. American Society of Hematology. Education Program · 2016
    Review
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. The prenatal origins of cancer.Nature reviews. Cancer · 2014
    Review
  20. 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

9 authors at 5 institutions in 1 country.

Bradford C PowellDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Lichun Jiang
Donna M Muzny
Lisa R Treviño
Zoann E Dreyer
Louise C Strong
David A Wheeler
Richard A Gibbs
Sharon E Plon
Baylor College of Medicine · USBaylor Genetics · USChildren's Cancer Center · USTexas Children's Hospital · USThe University of Texas MD Anderson Cancer Center · US

Funding

The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4M
Genomic Approaches to Defining Inherited Basis of Childhood CancerR01CA138836 · NCI · BAYLOR COLLEGE OF MEDICINE · PI PLON, SHARON E. · 2010 to 2012
$1.7M
NCI NIH HHS R01 CA138836NHGRI NIH HHS U54 HG003273NIGMS NIH HHS T32 GM007526
6 · The paper itself

Abstract

Although acute lymphocytic leukemia (ALL) is the most common childhood cancer, genetic predisposition to ALL remains poorly understood. Whole-exome sequencing was performed in an extended kindred in which five individuals had been diagnosed with leukemia. Analysis revealed a nonsense variant of TP53 which has been previously reported in families with sarcomas and other typical Li Fraumeni syndrome-associated cancers but never in a familial leukemia kindred. This unexpected finding enabled identification of an appropriate sibling bone marrow donor and illustrates that exome sequencing will reveal atypical clinical presentations of even well-studied genes.

Indexed as

ExomeFemaleGenetic Predisposition to DiseaseHumansMalePedigreePrecursor Cell Lymphoblastic Leukemia-LymphomaTumor Suppressor Protein p53TP53 protein, humanTumor Suppressor Protein p53

Identifiers

PMID23255406
PMCPMC3926299
OpenAlexW2094981158

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.