UMMS Affiliation

Department of Psychiatry

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Cancer Biology | Cognitive Neuroscience | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Neoplasms | Nervous System | Nervous System Diseases | Neurology


Background: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by germline mutations in the APC gene. Patients with FAP have multiple extraintestinal manifestations that follow a genotype-phenotype pattern; however, few data exist characterizing their cognitive abilities. Given the role of the APC protein in development of the central nervous system, we hypothesized that patients with FAP would show differences in cognitive functioning compared to controls.

Methods: Matched case-control study designed to evaluate cognitive function using the Test of Nonverbal Intelligence-4, the Bateria III Woodcock-Munoz, and the Behavior Rating Inventory of Executive Functions-Adult. Twenty-six individuals with FAP (mean age = 34.2 +/- 15.0 years) and 25 age-gender and educational level matched controls (mean age = 32.7 +/- 13.8 years) were evaluated.

Results: FAP-cases had significantly lower IQ (p = 0.005). Across all tasks of the Bateria III Woodcock-Munoz, FAP-cases performed significantly lower than controls, with all of the summary scores falling in the bottom quartile compared to controls (p < 0.0001). Patients with FAP scored within the deficient range for Long-Term Retrieval and Cognitive Fluency.

Conclusion: APC protein has an important role in neurocognitive function. The pervasive nature of the observed cognitive dysfunction suggests that loss or dysfunction of the APC protein impacts processes in cortical and subcortical brain regions. Additional studies examining larger ethnically diverse cohorts with FAP are warranted.


FAP, Familial adenomatous polyposis, Hispanics, Neurocognition

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Copyright The Author(s). 2020. Open Access: This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.

DOI of Published Version



Cruz-Correa MR, Sala AC, Cintrón B, Hernández J, Olivera M, Cora A, Moore CM, Luciano CA, Soto-Salgado M, Giardiello FM, Hooper SR. Ubiquitous neurocognitive dysfunction in familial adenomatous polyposis: proof-of-concept of the role of APC protein in neurocognitive function. Hered Cancer Clin Pract. 2020 Feb 24;18:4. doi: 10.1186/s13053-020-0135-3. PMID: 32123549; PMCID: PMC7041079. Link to article on publisher's site

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Hereditary cancer in clinical practice

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Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.