Evidence map›Paper›PMID 24366306›Full record

ArticleBritish journal of cancer2014

Germline CDH1 mutations in bilateral lobular carcinoma in situ.

C Petridis, I Shinomiya, K Kohut, P Gorman, M Caneppele, V Shah, M Troy, S E Pinder, A Hanby, I Tomlinson and 4 more

Abstract read
In one paragraph

Article in British journal of cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
–field-weighted citation impact
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

39 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Hereditary Diffuse Gastric Cancer: A 2022 Update.Journal of personalized medicine · 2022
    Review
  10. Article
  11. A NovelDiagnostics (Basel, Switzerland) · 2022
    Article
  12. 3D chromatin remodeling potentiates transcriptional programs driving cell invasion.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  13. Article
  14. miR-205-5p Downregulation andInternational journal of molecular sciences · 2021
    Article
  15. Review
  16. Frequency ofCancers · 2021
    Review
  17. Article
  18. Review
  19. Article
  20. Clinical spectrum and pleiotropic nature ofJournal of medical genetics · 2019
    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

14 authors.

C Petridis1] Research Oncology, Kings College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK [2] Medical and Molecular Genetics, Kings College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
I ShinomiyaResearch Oncology, Kings College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
K KohutCentre for Molecular Oncology, Barts Cancer Institute, Queen Mary, University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
P GormanCentre for Molecular Oncology, Barts Cancer Institute, Queen Mary, University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
M CaneppeleCentre for Molecular Oncology, Barts Cancer Institute, Queen Mary, University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
V ShahResearch Oncology, Kings College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
M TroyResearch Oncology, Kings College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
S E PinderResearch Oncology, Kings College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
A HanbyLeeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, UK.
I TomlinsonThe Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.
R C TrembathMedical and Molecular Genetics, Kings College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
R RoylanceCentre for Molecular Oncology, Barts Cancer Institute, Queen Mary, University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
M A SimpsonMedical and Molecular Genetics, Kings College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
E J SawyerResearch Oncology, Kings College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.

Funding

Cancer Research UKWellcome Trust 090532
6 · The paper itself

Abstract

backgroundInvasive lobular breast cancer (ILC) and lobular carcinoma in situ (LCIS) are characterised by loss of E-cadherin expression. However germline CDH1 mutations are rare in cases of ILC with no family history of hereditary diffuse gastric cancer (HDGC) and have not been described in women with LCIS.

methodsWe screened the CDH1 gene in 50 cases of bilateral LCIS/ILC using Sanger sequencing and MLPA.

resultsSanger sequencing revealed four pathogenic germline mutations, including a novel splicing mutation (c.48+1G>A). The remaining three (c.1465insC, c.1942G>T, c.2398delC) have been previously described. All four cases had bilateral LCIS +/- ILC and no family history of gastric cancer.

conclusionCDH1 germline mutations have not been previously described in women with LCIS. We have shown that germline CDH1 mutations are associated with early onset of bilateral LCIS with or without ILC in women without a family history of gastric cancer. CDH1 mutation screening should be considered in women with early onset of bilateral LCIS/ILC with no family history of HDGC.

Indexed as

Antigens, CDBase SequenceBreast NeoplasmsCadherinsCarcinoma in SituCarcinoma, LobularFemaleGerm-Line MutationHumansMiddle AgedSequence Analysis, DNAAntigens, CDCadherinsCDH1 protein, human

Identifiers

PMID24366306
PMCPMC3929874

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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.