Evidence map›Paper›PMID 38970662›Full record

ArticleSurgery today2025

Predictive modeling for the germline pathogenic variant of the APC gene in patients with adenomatous polyposis: proposing a new APC score.

Misato Takao, Tatsuro Yamaguchi, Hidetaka Eguchi, Okihide Suzuki, Yoshiko Mori, Noriyasu Chika, Takeshi Yamada, Yasushi Okazaki, Naohiro Tomita, Tadashi Nomizu and 6 more

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Article in Surgery today, 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

16 authors.

Misato TakaoDepartment of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan.ORCID http://orcid.org/0009-0004-4903-097X
Tatsuro YamaguchiDepartment of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan. tatsuro@yamaguchi.email.ne.jp.
Hidetaka EguchiDiagnostics and Therapeutics of Intractable Diseases and Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Okihide SuzukiDepartment of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan.
Yoshiko MoriDepartment of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan.
Noriyasu ChikaDepartment of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan.
Takeshi YamadaDepartment of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan.
Yasushi OkazakiDiagnostics and Therapeutics of Intractable Diseases and Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Naohiro TomitaDivision of Lower GI Surgery, Department of Surgery, Hyogo College of Medicine, Hyogo, Japan.
Tadashi NomizuDepartment of Surgery, Hoshi General Hospital, Fukushima, Japan.
Tomoyuki MommaDepartment of Gastrointestinal Tract Surgery, Fukushima Medical University, Fukushima, Japan.
Tetsuji TakayamaDepartment of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Kohji TanakayaDepartment of Surgery, NHO Iwakuni Clinical Center, Yamaguchi, Japan.
Kiwamu AkagiDivision of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.
Noriko TanabeDepartment of Genomic Medicine, Saitama Medical Center, Saitama Medical University, Saitama, Japan.
Hideyuki IshidaDepartment of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe precise diagnosis and medical management of patients with suspected familial adenomatous polyposis should be based on genetic testing, which may not always be available. Therefore, establishing a new model for predicting the likelihood of a germline pathogenic variant (GPV) of APC based on its clinical manifestations could prove to be useful in clinical practice.

methodsThe presence of GPVs of APC gene was investigated in 162 patients with adenomatous polyposis (≥ 10 polyps) using a multigene panel or single-gene testing. To generate a predictive model for GPV of the APC gene, a logistic regression analysis was performed using the clinicopathological variables available at the time of the diagnosis of adenomatous polyposis.

resultsNinety (55.6%) patients had GPV of the APC gene. According to a multivariate logistic regression analysis, age < 40 years, polyps ≥ 100, fundic gland polyposis, and a family history of colorectal polyposis were found to be independent predictors of the GPV of APC and were used to establish a formula for predicting the GPV of APC using the four predictors. The prediction model had an area under the curve of 0.91 (0.86-0.96) according to a receiver operating characteristic analysis.

conclusionThe model for predicting the GPV of APC will help patients with adenomatous polyposis and physicians make decisions about genetic testing.

Indexed as

Adenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinGenes, APCGerm-Line MutationAdolescentAdultAgedFemaleGenetic TestingHumansLogistic ModelsMaleMiddle AgedYoung AdultAdenomatous Polyposis Coli ProteinAPC protein, humanAPC scoreFamilial adenomatous polyposisGenetic testingPolyposis

Identifiers

PMID38970662

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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.