Evidence map›Paper›PMID 41296145›Full record

ArticleFamilial cancer2025

Updated genetic testing in individuals with unexplained adenomatous polyposis and the diagnostic yield.

Blake Rowell, Maegan E Roberts, Pamela L Brock, Julia Cooper, Rachel Pearlman, Matthew F Kalady, Stacey Culp, Peter P Stanich, Josie Baker

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Article in Familial cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Blake RowellCenter for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Maegan E RobertsDivision of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Pamela L BrockDivision of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Julia CooperDivision of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Rachel PearlmanDivision of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Matthew F KaladyDivision of Colon and Rectal Surgery, Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Stacey CulpDepartment of Biomedical Informatics, Center for Biostatistics, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Peter P StanichDivision of Gastroenterology, Hepatology, and Nutrition, Department of Internal Medicine, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Josie BakerDivision of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA. Josie.Baker@osumc.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing advancements have improved detection of hereditary polyposis syndromes. Many individuals with unexplained adenomatous polyposis previously underwent limited genetic testing and may benefit from updated testing to identify underlying hereditary polyposis syndromes. We aimed to evaluate the yield of updated testing in adenomatous polyposis cases with previously negative germline genetic testing. Individuals with adenomatous polyposis with uninformative genetic testing prior to 2016 and subsequent updated multi-gene panel testing were analyzed. The updated multi-gene panel testing included the currently recommended 12 polyposis-associated genes. Twenty-one individuals met study criteria. Updated genetic testing identified pathogenic variants (PV) in 6/21 (29%) with four (19%) of the PVs associated with a polyposis phenotype (APC [× 2], AXIN2, and biallelic PMS2) and two (10%) were associated with other cancer predisposition syndromes (ATM and RAD51C). Although APC was included in the initial testing for the two patients found to have APC PVs, the previously completed deletion/duplication analysis did not include the 5' untranslated region. Updated genetic testing in individuals with unexplained polyposis had a very high yield and identified previously undetected PVs. Updated testing enabled more accurate diagnoses and personalized surveillance recommendations as well as identification of at-risk relatives. Given the improved diagnostic yield, it is crucial to consider genetic testing for individuals with unexplained polyposis who have previously undergone limited testing, due to small gene lists and/or outdated technology, ensuring alignment with current standards.

Indexed as

Adenomatous Polyposis ColiGenetic TestingAdenomatous Polyposis Coli ProteinAdultAgedFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle AgedYoung AdultAdenomatous Polyposis Coli ProteinAPC protein, humanAdenomatous polyposisAPCColonic polyposis of unknown etiologyDiagnostic yieldIdiopathic adenomatous polyposisPanel testing

Identifiers

PMID41296145

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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.