Evidence map›Paper›PMID 42129295›Full record

ArticleEuropean journal of human genetics : EJHG2026

Follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: Data from the PRED-IdF network.

Maxime Rémond, Youenn Drouet, Antoine Dardenne, Guillaume Perrod, Jeanne Netter, Yann Parc, Christophe Cellier, Romain Coriat, Solenne Farelly, Fanny Maksimovic and 14 more

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In one paragraph

Article in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors.

Maxime Rémond *Department of Gastroenterology and Digestive oncology, Cochin Hospital, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France. maxime.remond@aphp.fr.ORCID http://orcid.org/0000-0001-7147-6936
Youenn Drouet *Département Prévention et Santé Publique, Centre Léon Bérard, Lyon, France.ORCID http://orcid.org/0000-0003-2963-558X
Antoine DardenneDepartment of Medical Oncology, Saint Antoine Hospital, Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Paris, France.
Guillaume PerrodDepartment of Gastroenterology and Digestive Oncology, Hôpital Européen Georges Pompidou, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.
Jeanne NetterDepartment of Gastroenterology and Digestive Oncology, Hôpital Européen Georges Pompidou, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.
Yann ParcDepartment of Digestive Surgery, Saint Antoine Hospital, Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Paris, France.
Christophe CellierDepartment of Gastroenterology and Digestive Oncology, Hôpital Européen Georges Pompidou, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.
Romain CoriatDepartment of Gastroenterology and Digestive oncology, Cochin Hospital, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.
Solenne FarellyDepartment of Gastroenterology and Digestive oncology, Cochin Hospital, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.
Fanny MaksimovicDepartment of Gastroenterology and Digestive oncology, Cochin Hospital, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.
Diane MolièreDepartment of Oncogenetics, Hôpital Européen Georges Pompidou, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.
Julie MetrasDepartment of Medical Oncology, Saint Antoine Hospital, Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Paris, France.
Patrick BenusiglioDepartment of Medical Genetics, Pitié-Salpêtrière hospital, Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Paris, France.ORCID http://orcid.org/0000-0003-1003-1997
Olivier CaronDepartment of Medical Oncology, Gustave Roussy, Villejuif, France.
Catherine GenestieDepartment of Pathology, Gustave Roussy, Villejuif, France.
Christine LassetDépartement Prévention et Santé Publique, Centre Léon Bérard, Lyon, France.ORCID http://orcid.org/0000-0002-8052-5880
Chrystelle ColasDepartment of Genetics, Institut Curie, Paris Sciences Lettres Research University, Paris, France.ORCID http://orcid.org/0000-0001-9146-9346
Bruno BuecherDepartment of Genetics, Institut Curie, Paris Sciences Lettres Research University, Paris, France.ORCID http://orcid.org/0000-0003-0703-9082
Emmanuelle FourmeDepartment of Genetics, Institut Curie, Paris Sciences Lettres Research University, Paris, France.
Anne-Sophie BatsDepartment of Gynaecological Oncological and Breast Surgery, Hôpital Européen Georges Pompidou, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.
Florence CouletDepartment of Medical Genetics, Pitié-Salpêtrière hospital, Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Paris, France.
Albain ChansavangDepartment of Genomic Medicine of Tumors and Cancers, Cochin Hospital, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.ORCID http://orcid.org/0000-0002-9835-2156
Nadim HamzaouiDepartment of Genomic Medicine of Tumors and Cancers, Cochin Hospital, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.
Marion DhoogeDepartment of Gastroenterology and Digestive oncology, Cochin Hospital, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France. marion.dhooge@aphp.fr.ORCID http://orcid.org/0000-0002-7279-5549

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Peutz-Jeghers syndrome (PJS) is a very rare autosomal dominant disorder associated with an increased risk of gastrointestinal and gynecological cancers. However, risk estimates vary widely, due to the small size and retrospective nature of most studies, which may introduce recruitment bias. Accurate data are needed to improve cancer screening. The aim of this study was to estimate cancer risks in a large cohort of PJS patients. A total of 161 patients were included, half of whom were prospectively monitored as part of a surveillance network. This makes it one of the largest cohorts of PJS patients to date. We estimated age-dependent cancer risks using the Genotype Restricted Likelihood (GRL) method to correct for ascertainment bias. Standardized mortality ratios (SMRs) were calculated to assess mortality. PJS patients showed an increased risk of cancer, particularly early-onset cancers (cumulative risk before age 70: 18.1% in men, 36.8% in women). This resulted in excess mortality, especially among young women. The most frequent cancers were breast, lung, and cervical cancers. Small bowel was the site with the highest relative risk. Although the risk of pancreatic adenocarcinoma (PDAC) was elevated, it was much lower than had been reported previously (relative risk at age 50: 11.8). Degenerated intraductal papillary mucinous neoplasms (IPMN) may contribute to the risk of PDAC in PJS, while this carcinogenesis pathway accounts for only 10% of PDACs overall. We report an unexpectedly high risk of lung adenocarcinoma, calling into question the relevance of lung cancer screening in PJS.

Identifiers

PMID42129295

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