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Link to original content: http://pubmed.ncbi.nlm.nih.gov/38687439/
A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America - PubMed Skip to main page content
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. 2024 Nov;23(4):507-513.
doi: 10.1007/s10689-024-00382-3. Epub 2024 Apr 30.

A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America

Patricia Esperon  1   2 , Florencia Neffa  3 , Walter Pavicic  4   5 , Florencia Spirandelli  6 , Karin Alvarez  7 , María José Mullins  8 , Benedito Mauro Rossi  9   10 , Rodrigo Felipe Góngora E Silva  10 , Carlos Vaccaro  11 , Francisco Lopéz-Köstner  7 , Jorge Rugeles  12   13 , Adriana Della Valle  3 , Mev Dominguez-Valentin  14
Affiliations

A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America

Patricia Esperon et al. Fam Cancer. 2024 Nov.

Abstract

MUTYH-Associated Polyposis (MAP) is caused by biallelic pathogenic germline variants in the MUTYH gene. However, individuals harboring monoallelic MUTYH pathogenic variants in the presence of a positive family history have been reported to have a twofold increased risk of colorectal cancer (CRC) and extra colonic cancers. Our aim was to characterize the spectrum of monoallelic and biallelic germline MUTYH pathogenic variants in Latin American patients and to describe their clinical and genetic characteristics. Patients were identified from eight high-risk genetic cancer centers of five Latin American countries. Statistical analysis was performed using the two-sided P test using the Vassarstats statistical tools. Statistical significance was set at a p value ≤ 0.05. Of the 105 unrelated patients with cancer or colorectal polyposis, 84.8% and 15.2% carried pathogenic monoallelic and biallelic MUTYH variants, respectively. The most common pathogenic variants were p.Gly396Asp and p.Tyr179Cys (55% and 23%, respectively). The mean age at first diagnosis was 48.29 years (range 31-71) and 49.90 years (range 27-87) in biallelic and monoallelic MUTYH patients, respectively. CRC was the only cancer diagnosed in patients with biallelic MUTYH pathogenic variants (75%), while breast cancer (46.1%) was more common than CRC (24.7%) in individuals with monoallelic MUTYH pathogenic variants. We reported a high frequency of European founder variants in our diverse population. Some phenotypic differences from current studies were identified, such as a higher breast cancer burden in monoallelic carriers and a complete absence of extra-colon tumors in biallelic patients.

Keywords: MUTYH; Genotype; Latin America; Phenotype.

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