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

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dc.coverageDOI: 10.1007/s10689-024-00382-3
dc.creatorEsperon, Patricia
dc.creatorNeffa, Florencia
dc.creatorPavicic, Walter
dc.creatorSpirandelli, Florencia
dc.creatorAlvarez, Karin
dc.creatorMullins, María José
dc.creatorRossi, Benedito Mauro
dc.creatorGóngora e Silva, Rodrigo Felipe
dc.creatorVaccaro, Carlos
dc.creatorLopéz-Köstner, Francisco
dc.creatorRugeles, Jorge
dc.creatorValle, Adriana Della
dc.creatorDominguez-Valentin, Mev
dc.date2024
dc.date.accessioned2025-11-18T19:46:02Z
dc.date.available2025-11-18T19:46:02Z
dc.description<p>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.</p>eng
dc.identifierhttps://investigadores.uandes.cl/en/publications/2c9ffb74-6d1e-41e8-b8ea-650988a9083a
dc.identifier.urihttps://repositorio.uandes.cl/handle/uandes/54303
dc.languageeng
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.sourcevol.23 (2024) nr.4 p.507-513
dc.subjectGenotype
dc.subjectLatin America
dc.subjectMUTYH
dc.subjectPhenotype
dc.subjectSDG 3 - Good Health and Well-being
dc.titleA comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin Americaeng
dc.typeArticleeng
dc.typeArtículospa
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