Evidence map›Paper›PMID 37088804›Full record

ArticleEuropean journal of human genetics : EJHG2023

Lynch syndrome: influence of additional susceptibility variants on cancer risk.

Roseline Vibert, Jasmine Hasnaoui, Alexandre Perrier, Alexandra Lefebvre, Chrystelle Colas, Marion Dhooge, Noémie Basset, Albain Chansavang, Camille Desseignes, Alex Duval and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Why don't we all use genomic testing?European journal of human genetics : EJHG · 2023
    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

25 authors.

Roseline VibertDépartement de Génétique médicale et Institut Universitaire de Cancérologie, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France. roseline.vibert@aphp.fr.ORCID 0000-0001-5202-0212
Jasmine HasnaouiDépartement de Génétique médicale et Institut Universitaire de Cancérologie, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.
Alexandre PerrierDépartement de Génétique médicale et Institut Universitaire de Cancérologie, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.
Alexandra LefebvreLaboratoire de Probabilités, Statistique et Modélisation, CNRS UMR 8001, Sorbonne Université, Paris, France.
Chrystelle ColasDépartement de Génétique, Institut Curie, Paris, France.
Marion DhoogeService de Gastroentérologie et Oncologie digestive, Hôpital Cochin, AP-HP Centre, Paris, France.
Noémie BassetDépartement de Génétique médicale et Institut Universitaire de Cancérologie, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.
Albain ChansavangFédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, Paris, France.ORCID 0000-0002-9835-2156
Camille DesseignesDépartement de Génétique médicale et Institut Universitaire de Cancérologie, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.
Alex DuvalSorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, 184 rue du Faubourg Saint-Antoine, F-75012, Paris, France.ORCID 0000-0003-1534-1724
Solenne FarellyService de Gastroentérologie et Oncologie digestive, Hôpital Cochin, AP-HP Centre, Paris, France.
Nadim HamzaouiFédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, Paris, France.
Pierre Laurent-PuigInstitut du Cancer Paris CARPEM, APHP, Département de Médecine Génomique des tumeurs et cancers, APHP, Centre - Université Paris Cité, Paris, France.ORCID 0000-0001-8475-5459
Julie MetrasService de Chirurgie Générale et Digestive, Hôpital Saint-Antoine AP-HP, Sorbonne Université, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.
Diane MoliereInstitut du Cancer Paris CARPEM, APHP, Département de Médecine Génomique des tumeurs et cancers, APHP, Centre - Université Paris Cité, Paris, France.
Martine MulerisDépartement de Génétique médicale et Institut Universitaire de Cancérologie, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.
Jeanne NetterInstitut du Cancer Paris CARPEM, APHP, Département de Médecine Génomique des tumeurs et cancers, APHP, Centre - Université Paris Cité, Paris, France.
Mehdi TouatService de Neurologie 2 Mazarin, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.
Franck BielleDépartement de Neuropathologie Raymond Escourolle, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.ORCID 0000-0001-6564-6388
Karim LabrecheSorbonne-Université, équipe BMX-UMS PASS-91 Bd de l'hôpital, F-75013, Paris, France.
Romain NicolleDépartement de Génétique médicale et Institut Universitaire de Cancérologie, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.ORCID 0000-0001-8578-9095
Géraldine PerkinsInstitut du Cancer Paris CARPEM, APHP, Département de Médecine Génomique des tumeurs et cancers, APHP, Centre - Université Paris Cité, Paris, France.
Mathilde WarcoinDépartement de Génétique, Institut Curie, Paris, France.
Florence CouletDépartement de Génétique médicale et Institut Universitaire de Cancérologie, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.
Patrick R BenusiglioDépartement de Génétique médicale et Institut Universitaire de Cancérologie, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, 47-83 Boulevard de l'Hôpital, F-75013, Paris, France.ORCID 0000-0003-1003-1997

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Some patients with Lynch syndrome (LS) have extreme phenotypes, i.e. cancer before the recommended screening age, or cancer for which there are no screening guidelines. We made the hypothesis that additional germline variants in cancer susceptibility genes (CSG) could explain some of these phenotypes. We compared the prevalence of additional CSG variants in LS patients with a cancer diagnosis before age 30 (early-onset, EO group) and after 40 (usual-onset, UO group). While there was no overall difference, we did find an excess of pathogenic variants and variants of unknown significance in EO cases when only gastrointestinal CSG were considered (OR 2.25; 95% CI: 1.01-5.06, p value = 0.04). Four EO cases stood out: two with POLE/POLD1 variants in the key exonuclease domain, one with a BMPR1A duplication and one with an EPCAM deletion. Additional germline variants should be considered in future screening recommendations, as they might influence cancer risk.

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisGerm-Line MutationHumansPhenotypeRisk

Identifiers

PMID37088804
PMCPMC10474080

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.