Evidence map›Paper›PMID 41530368›Full record

GuidelineEuropean journal of human genetics : EJHG2026

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis).

Said C Farschtschi, Candy Kumps, Tamara Hussong Milagre, Periklis Makrythanasis, Ariane Van Tongerloo, Ellen Denayer, Mariëtte van Kouwen, Estela Carrasco López, Anna Sophie Berghoff, Salvo Testa and 13 more

Abstract readPractice Guideline
In one paragraph

Guideline 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. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

23 authors.

Said C FarschtschiUniversity Medical Center Hamburg-Eppendorf, Hamburg, Germany. s.farschtschi@uke.de.ORCID 0000-0002-3596-5932
Candy KumpsUniversity Hospital Ghent, Ghent, Belgium.
Tamara Hussong MilagreEVITA Association - Hereditary Cancer (Associação EVITA - Cancro Hereditário, Lisbon, Portugal.
Periklis MakrythanasisLaboratory of Medical Genetics, 'Aghia Sophia' Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.ORCID 0000-0002-3725-0113
Ariane Van TongerlooUniversity Hospital Ghent, Ghent, Belgium.
Ellen DenayerCenter for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
Mariëtte van KouwenRadboud university medical center, Nijmegen, the Netherlands.
Estela Carrasco LópezVall d'Hebron University Hospital, Barcelona, Spain.
Anna Sophie BerghoffMedical University of Vienna, Vienna, Austria.
Salvo TestaFondazione Mutagens (hereditary syndromes carriers), Milano, Italy.
Claudia CesarettiFondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Eva TrevissonDepartment of Women's and Children's Health, University of Padua, University Hospital of Padua, Padua, Italy.ORCID 0000-0002-5380-6265
Renata d' OliveiraUnidade Local de Saúde (ULS) São João, Porto, Portugal.ORCID 0000-0002-6469-7674
Francesca FianchiFondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Claas RöhlNF Kinder/ NF Patients United, Vienna, Austria.
Diana Salinas-ChaparroHospital Sant Joan de Deu, Barcelona, Spain.
Ileen SlegersUZ Brussel, Brussel, Belgium.ORCID 0000-0001-5907-829X
Marianne GeilswijkAarhus University Hospital, Aarhus, Denmark.
Manon SuerinkLeiden University Medical Center, Leiden, the Netherlands.ORCID 0000-0001-7058-6973
Irene SpinelliFondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Sandra JanssensUniversity Hospital Ghent, Ghent, Belgium.
Sarah PughManchester Centre for Genomic Medicine, Manchester University Foundation NHS trust, Manchester, UK.
Laura Kirstine Sønderberg RoosRigshospitalet, Copenhagen, Denmark.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cancer predisposition syndromes (CPSs), including genetic tumour risk syndromes (genturis), are a heterogeneous group of genetic disorders characterised by an increased risk of developing tumours compared to the general population. CPSs raise reproductive issues for affected individuals because of the risk of passing the disease-causing genetic alterations on to offspring. The demand for reproductive counselling is often unmet due to the lack of sufficient healthcare professionals with the specialised knowledge, experience and skill. Based on a comprehensive literature review of 851 publications and expert consensus (multidisciplinary medical experts and patient representatives), the European Reference Network on genetic tumour risk syndromes (ERN GENTURIS) developed a guideline providing 16 recommendations for reproductive counselling in CPSs. The central recommendation is to offer reproductive counselling proactively to all individuals with a CPS and their relevant family members, together with psychological support and in multidisciplinary collaborations. This guideline aims to standardize the offer of reproductive counselling for individuals with a CPS across Europe, empowers healthcare professionals for their specific tasks, and helps patients dealing with their own challenges.

Indexed as

Genetic CounselingGenetic Predisposition to DiseaseNeoplastic Syndromes, HereditaryEuropeHumansReview Literature as Topic

Identifiers

PMID41530368
PMCPMC12963376

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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 OpenQuestion graph.