Genetic complexity in recurrent basal cell carcinoma: A MUTYH variant case report Journal Article


Authors: Bouso, F.; Zaher, A.
Article Title: Genetic complexity in recurrent basal cell carcinoma: A MUTYH variant case report
Abstract: The MYUTH gene plays a critical role in preserving the integrity of the human genome, with mutations being identified in several different cancer diagnoses. It serves its purpose by encoding a DNA glycosylase enzyme responsible for preventing oxidative damage through the excision of adenine that is incorrectly paired with guanine or cytosine. Mutations of the MUTYH gene have been most frequently associated with MUTYHassociated polyposis (MAP) and colorectal cancer. Biallelic mutations of the MUTYH gene are implicated in MAP, and carriers of this mutation have an increased lifetime risk of developing colorectal cancer of 43% to 100%, depending on the appropriate screening and surveillance steps taken. This case describes a patient with recurrent basal cell carcinomas (BCC) and subsequent genetic testing that revealed a pathogenic monoallelic mutation of the MUTYH gene, as well as the interventions that were subsequently performed. It highlights a potentially new patient population that would benefit from early screening to assess the risk of developing colorectal cancers as well as BCC.
Keywords: basal cell carcinoma; colon cancer; dermatology; mutyh; gastroenterology
Journal Title: Cureus
Volume: 16
Issue: 3
ISSN: 2168-8184
Publisher: Cureus Inc.  
Date Published: 2024-03-01
Start Page: e55677
Language: English
ACCESSION: WOS:001207547300024
DOI: 10.7759/cureus.55677
PROVIDER: wos
PMCID: PMC10997523
PUBMED: 38586659
Notes: Zaher's first name is listed as Akhaled -- Source: Wos
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  1. Anas Zaher
    2 Zaher