Evidence map›Paper›PMID 31841163›Full record

ArticleJournal of the National Cancer Institute2020

CDH1 on Multigene Panel Testing: Look Before You Leap.

Bryson W Katona, Dana Farengo Clark, Susan M Domchek

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Journal of the National Cancer Institute, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 2 pooled it
3.2field-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

18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Review
  4. Review
  5. Article
  6. Case Series of 11Genes · 2023
    Review
  7. Article
  8. Article
  9. Hereditary Diffuse Gastric Cancer: A 2022 Update.Journal of personalized medicine · 2022
    Review
  10. Review
  11. Genes · 2022
    Article
  12. Article
  13. Review
  14. Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021
    Article
  15. Cancers · 2021
    Article
  16. Frequency ofCancers · 2021
    Review
  17. Review
  18. Stomaching Multigene Panel Testing: What to Do About CDH1?Journal of the National Cancer Institute · 2020
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Bryson W KatonaDivision of Gastroenterology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Dana Farengo ClarkDivision of Hematology/Oncology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Susan M DomchekDivision of Hematology/Oncology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
University of Pennsylvania · US

Funding

Menin/MLL promotes cell survival in the setting of EGFR inhibitionK08DK106489 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATONA, BRYSON WILLIAM · 2015 to 2019
$819k
NIDDK NIH HHS K08 DK106489
6 · The paper itself

Abstract

Multigene panel testing (MGPT) has become a critical component of cancer risk assessment in clinical practice. As technology and access improve and costs decrease, more individuals than ever are undergoing MGPT for genetic evaluation. One gene that deserves special consideration when included on MGPT is CDH1, which codes for the cell-cell adhesion protein E-cadherin. Pathogenic and likely pathogenic germline variants in CDH1 have been associated with hereditary diffuse gastric cancer syndrome, and in highly penetrant families, testing for these variants is critical for proper risk management. However, recent data demonstrated that gastric cancer penetrance in unselected CDH1 carriers may be lower than expected. Further complicating matters are the lack of effective screening strategies for gastric cancer and recommendation for risk-reducing total gastrectomy in CDH1 carriers. Therefore, the discovery of an unexpected pathogenic or likely pathogenic CDH1 variant on multigene panel testing, when testing for CDH1 would not normally be considered based on personal or family history alone, creates dilemmas for both patients and providers. In this commentary, we highlight the potential for unexpected CDH1 variants on MGPT, outline the uncertainties associated with these variants, and emphasize the importance of pretest counseling regarding the potential for an unexpected CDH1 variant. Although CDH1 testing is often important for clinical decision-making, individuals and providers need to be aware of the potential for an unexpected CDH1 variant when CDH1 is included on MGPT for cancer risk assessment.

Indexed as

AdultAntigens, CDCadherinsFemaleGenetic CounselingGenetic Predisposition to DiseaseGenetic TestingHumansNeoplasmsPedigreeAntigens, CDCadherinsCDH1 protein, human

Identifiers

PMID31841163
PMCPMC7156936
OpenAlexW2995043908

What OpenQuestion holds

Textmetadata
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.