Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.
Article in JCO precision oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
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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.
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5 · Who and what money
Authors and funding
35 authors.
Nelson Martinsi3S - Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal.ORCID 0009-0003-1801-7142
Mariona TerradasHereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0001-7813-1172
José Garcia-Pelaezi3S - Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal.ORCID 0000-0003-0677-8908
Anna K SommerInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.ORCID 0000-0001-6850-9290
German DemidovInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-9075-4276
Leslie MatalongaCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID 0000-0003-0807-2570
Mireia Ramos-MuntadaHereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0002-5531-1442
Iris B A W Te PaskeDepartment of Human Genetics, Radboud University Medical Center, Radboud Research Institute for Medical Innovation, Nijmegen, the Netherlands.
Isabel SpierInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
Arjen MensenkampDepartment of Human Genetics, Radboud University Medical Center, Radboud Research Institute for Medical Innovation, Nijmegen, the Netherlands.ORCID 0000-0003-3805-877X
Janneke Schuurs-HoeijmakersDepartment of Human Genetics, Radboud University Medical Center, Radboud Research Institute for Medical Innovation, Nijmegen, the Netherlands.
Irene GulloRISE-HEALTH, Department of Pathology, Medical Faculty of University of Porto, Porto, Portugal.ORCID 0000-0003-3377-0530
Celina São Joséi3S - Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal.ORCID 0000-0003-4292-3957
Ana Maria Pedroi3S - Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal.
Raquel Gouveia SilvaGenetics Service, Unidade Local de Saúde Santa Maria (ULSSM), Centro Académico de Medicina de Lisboa, Lisbon, Portugal.ORCID 0000-0002-5470-5490
Ana Berta SousaGenetics Service, Unidade Local de Saúde Santa Maria (ULSSM), Centro Académico de Medicina de Lisboa, Lisbon, Portugal.ORCID 0000-0001-5889-2492
Pedro Amoroso CanãoUnidade Local de Saúde de São João (ULSSJ), Porto, Portugal.
Susana FernandesFaculty of Medicine of the University of Porto (FMUP), Porto, Portugal.ORCID 0000-0003-1128-833X
Paula RofesHereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0001-6045-7879
Joan BrunetHereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0003-1945-3512
Gabriel CapelláHereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0002-4669-7320
Steven LaurieCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID 0000-0003-3913-5829
Conxi LázaroHereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0002-7198-5906
Nicoline HoogerbruggeDepartment of Human Genetics, Radboud University Medical Center, Radboud Research Institute for Medical Innovation, Nijmegen, the Netherlands.ORCID 0000-0003-2393-8141
Richarda M de VoerDepartment of Human Genetics, Radboud University Medical Center, Radboud Research Institute for Medical Innovation, Nijmegen, the Netherlands.ORCID 0000-0002-8222-0343
Stefan AretzInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.ORCID 0000-0002-5228-1890
Carla Oliveirai3S - Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal.ORCID 0000-0001-8340-2264
Laura ValleHereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0003-0371-0844
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
purposeHereditary cancers represent 5%-10% of all cancers, typically characterized by familial aggregation, early onset, and/or multiple primary tumors. Isolated cases with extreme early-onset or multiple unrelated cancers are rare and frequently underdiagnosed. This study aimed to improve genetic diagnostic yield in unresolved patients with strong clinical suspicion of hereditary cancer. Inclusion criteria were (1) ≥4 primary tumors in different organs (or ≥3 if two are rare), (2) adult-type cancers at ≤25 years, or (3) profuse gastrointestinal adenomatous polyposis before age 50 years or profuse polyposis of unknown type before age 30 years.
methodsGermline DNA from 98 patients selected through ERN-GENTURIS underwent short-read whole-genome sequencing (WGS). Ninety had received negative results from standard genetic testing, whereas eight had not been tested. Variant analysis was performed using the RD-Connect GPAP and Solve-RD frameworks.
resultsPathogenic or likely pathogenic variants in phenotype-related high-penetrance genes were found in 6% of patients, including
conclusionComprehensive resequencing of patients suspected of hereditary cancer increased the diagnostic yield by 6%. Detected pathogenic variants involved phenotype-related genes not previously analyzed or missed because of mosaicism. WGS further enables identification of novel gene associations and structural, deep intronic, or regulatory variants.
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.
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants. · full record | OpenQuestion