Evidence map›Paper›PMID 29589180›Full record

ArticleFamilial cancer2019

Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.

Christopher Hakkaart, Lis Ellison-Loschmann, Robert Day, Andrew Sporle, Jonathan Koea, Pauline Harawira, Soo Cheng, Michelle Gray, Tracey Whaanga, Neil Pearce and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 2 pooled it
2.0field-weighted citation impact, top 13% 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

21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. Hereditary Diffuse Gastric Cancer: A 2022 Update.Journal of personalized medicine · 2022
    Review
  9. Review
  10. Article
  11. Article
  12. Next-Generation Bisulfite Sequencing for Targeted DNA Methylation Analysis.Methods in molecular biology (Clifton, N.J.) · 2022
    Article
  13. Review
  14. Cancers · 2020
    Article
  15. Article
  16. Article
  17. Identification of c.1531C>T Pathogenic Variant in theInternational journal of molecular sciences · 2019
    Article
  18. Targeting Nuclear Exporter Protein XPO1/CRM1 in Gastric Cancer.International journal of molecular sciences · 2019
    Article
  19. 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

11 authors at 5 institutions in 2 countries.

Christopher HakkaartCancer Genetics Laboratory, Centre for Translational Cancer Research, University of Otago, P. O. Box 56, Dunedin, 9054, New Zealand.
Lis Ellison-LoschmannCentre for Public Health Research, Massey University, Wellington, New Zealand.
Robert DayCancer Genetics Laboratory, Centre for Translational Cancer Research, University of Otago, P. O. Box 56, Dunedin, 9054, New Zealand.
Andrew SporleDepartment of Statistics, The University of Auckland, Auckland, New Zealand.
Jonathan KoeaWaitemata District Health Board, Auckland, New Zealand.
Pauline HarawiraKimihauora Health Centre, Tauranga, New Zealand.
Soo ChengCentre for Public Health Research, Massey University, Wellington, New Zealand.
Michelle GrayCentre for Public Health Research, Massey University, Wellington, New Zealand.
Tracey WhaangaCentre for Public Health Research, Massey University, Wellington, New Zealand.
Neil PearceDepartment of Medical Statistics, London School of Hygiene & Tropical Medicine, London, UK.
Parry GuilfordCancer Genetics Laboratory, Centre for Translational Cancer Research, University of Otago, P. O. Box 56, Dunedin, 9054, New Zealand. parry.guilford@otago.ac.nz.
Massey University · NZUniversity of Otago · NZLondon School of Hygiene & Tropical Medicine · GBUniversity of Auckland · NZWaitemata District Health Board · NZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

New Zealand Māori have a considerably higher incidence of gastric cancer compared to non-Māori, and are one of the few populations worldwide with a higher prevalence of diffuse-type disease. Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primarily characterised by an extreme lifetime risk of developing diffuse gastric cancer. Pathogenic CDH1 mutations are well described in Māori families in New Zealand. However, the contribution of these mutations to the high incidence of gastric cancer is unknown. We have used next-generation sequencing, Sanger sequencing, and Multiplex Ligation-dependent Probe Amplification to examine germline CDH1 in an unselected series of 94 Māori gastric cancer patients and 200 healthy matched controls. Overall, 18% of all cases, 34% of cases diagnosed with diffuse-type gastric cancer, and 67% of cases diagnosed aged less than 45 years carried pathogenic CDH1 mutations. After adjusting for the effect of screening known HDGC families, we estimate that 6% of all advanced gastric cancers and 13% of all advanced diffuse-type gastric cancers would carry germline CDH1 mutations. Our results demonstrate that germline CDH1 mutations are a significant contributor to the high frequency of diffuse gastric cancer in New Zealand Māori.

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAgedAged, 80 and overAge of OnsetAntigens, CDCadherinsDNA Mutational AnalysisFemaleGenetic TestingGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansIncidenceMaleAntigens, CDCadherinsCDH1 protein, humanCDH1E-cadherinGenetic predisposition testingHereditary diffuse gastric cancerMāoriNew Zealand

Identifiers

PMID29589180
PMCPMC6323075
OpenAlexW2794859932

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.