Evidence map›Paper›PMID 40100464›Full record

ArticleFamilial cancer2025

Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk.

Ane J Schei-Andersen, Vera M Witjes, Janet R Vos, Arjen R Mensenkamp, Anne van Altena, Jolanda Schieving, Michiel Simons, Janneke H M Schuurs-Hoeijmakers, PTEN Study Group, Nicoline Hoogerbrugge

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In one paragraph

Article in Familial cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Ane J Schei-AndersenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Vera M WitjesDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Janet R VosDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Arjen R MensenkampDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Anne van AltenaDepartment of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, The Netherlands.
Jolanda SchievingDepartment of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.
Michiel SimonsDepartment of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
Janneke H M Schuurs-HoeijmakersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
PTEN Study Group
Nicoline HoogerbruggeDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. nicoline.hoogerbrugge@radboudumc.nl.

Funding

HORIZON EUROPE Marie Sklodowska-Curie Actions No955534
6 · The paper itself

Abstract

Increased hereditary cancer risk is one of the hallmarks of PTEN Hamartoma Tumor Syndrome (PHTS) which is caused by a pathogenic germline variant in PTEN. Case reports and some cohort studies have described ovarian cancer (OC) in PHTS patients. Previously, we observed an enrichment of non-serous OC in PHTS compared to sporadic cases (3% vs 1%). However, ovarian cancer is currently not considered a PHTS-related cancer. The aim of this study was to describe five PHTS patients with a pathogenic germline variant in PTEN with non-serous OC. Three of the non-serous OCs were mucinous carcinomas (49, 51 and 52 years) and two were malignant germ cell tumors (8 and 15 years) and all were diagnosed before genetic testing and PHTS diagnosis. In addition to OC, the described patients developed other PHTS-related benign and malignant lesions. We provide further evidence that non-serous ovarian cancer, especially mucinous, endometrioid and malignant germ cell tumors should be further investigated as potential PHTS-related cancers.

Indexed as

Adenocarcinoma, MucinousHamartoma Syndrome, MultipleNeoplasms, Germ Cell and EmbryonalOvarian NeoplasmsPTEN PhosphohydrolaseAdultFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMiddle AgedPTEN PhosphohydrolasePTEN protein, humanGeneticsHereditary cancerOvarian cancerPhenotypePHTSPTEN

Identifiers

PMID40100464
PMCPMC11920364

What Socratic holds

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Registered trials

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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 Socratic graph.