Evidence map›Paper›PMID 29071502›Full record

ReviewFamilial cancer2018

Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge.

Henry T Lynch, Stephen Lanspa, Trudy Shaw, Murray Joseph Casey, Marc Rendell, Mark Stacey, Theresa Townley, Carrie Snyder, Megan Hitchins, Joan Bailey-Wilson

Abstract readReview
PubMed Publisher
In one paragraph

Review in Familial cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.9field-weighted citation impact, top 15% 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

13 citing papers in PubMed, 29 citations in OpenAlex.

  1. Therapeutic targeting of mismatch repair-deficient cancers.Nature reviews. Clinical oncology · 2025
    Review
  2. Review
  3. Article
  4. Article
  5. Modifier genes and Lynch syndrome: some considerations.Hereditary cancer in clinical practice · 2022
    Review
  6. Review
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Introduction: Lynch syndrome-its molecular mechanism and current topics.International journal of clinical oncology · 2019
    Review
  13. 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

10 authors at 3 institutions in 1 country.

Henry T LynchHereditary Cancer Center, Creighton University, 202 Hixson-Lied Science Building, Omaha, NE, 68178, USA. htlynch@creighton.edu.
Stephen LanspaHereditary Cancer Center, Creighton University, 202 Hixson-Lied Science Building, Omaha, NE, 68178, USA.
Trudy ShawHereditary Cancer Center, Creighton University, 202 Hixson-Lied Science Building, Omaha, NE, 68178, USA.
Murray Joseph CaseyHereditary Cancer Center, Creighton University, 202 Hixson-Lied Science Building, Omaha, NE, 68178, USA.
Marc RendellThe Rose Salter Medical Research Foundation, 34 Versailles, Newport Coast, CA, 92657, USA.
Mark StaceyHereditary Cancer Center, Creighton University, 202 Hixson-Lied Science Building, Omaha, NE, 68178, USA.
Theresa TownleyInternal Medicine Department, Creighton University, 2500 California Plaza, Omaha, NE, 68178, USA.
Carrie SnyderHereditary Cancer Center, Creighton University, 202 Hixson-Lied Science Building, Omaha, NE, 68178, USA.
Megan HitchinsDepartment of Biomedical Sciences, Cedars-Sinai Medical Center, 8700 Beverly Blvd., Steven Spielberg Building Room 365, Los Angeles, CA, 90048, USA.
Joan Bailey-WilsonComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Suite 1200, Baltimore, MD, 21224, USA.
Creighton University · USCedars-Sinai Medical Center · USNational Institutes of Health · US

Funding

Genetic Epidemiology of CancerZIAHG200331 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$11.7M
Nebraska Department of Health and Human Services LB595
6 · The paper itself

Abstract

Lynch syndrome is the hereditary disorder that most frequently predisposes to colorectal cancer as well as predisposing to a number of extracolonic cancers, most prominently endometrial cancer. It is caused by germline mutations in the mismatch repair genes. Both its phenotype and genotype show marked heterogeneity. This review gives a historical overview of the syndrome, its heterogeneity, its genomic landscape, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy.

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisGenotypeHumansPhenotypeColorectal cancerEndometrial cancerHereditary cancerHereditary nonpolyposis colorectal cancerLynch syndromeMismatch repair

Identifiers

PMID29071502
OpenAlexW2767076955

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.