The Application of Clinical Genetics (Apr 2023)

The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas

  • Rodriguez-Rojas LX,
  • Candelo E,
  • Pachajoa H,
  • Garcia-Robledo JE,
  • Nastasi-Catanese JA,
  • Olave-Rodriguez JA,
  • Zambrano AR

Journal volume & issue
Vol. Volume 16
pp. 53 – 62

Abstract

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Lisa Ximena Rodriguez-Rojas,1,2 Estephania Candelo,3,4 Harry Pachajoa,1,2,4 Juan Esteban Garcia-Robledo,3 Jose Antonio Nastasi-Catanese,1,2 Jorge Andres Olave-Rodriguez,2 Angela R Zambrano5 1Department of Human Genetics, Fundación Valle del Lili, Cali, Colombia; 2Faculty of Health Sciences, Universidad Icesi, Cali, Colombia; 3Fundación Valle del Lili, Centro de Investigaciones Clínicas, Cali, Colombia; 4Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia; 5Department of Hematology/Oncology, Fundación Valle del Lili, Cali, ColombiaCorrespondence: Lisa Ximena Rodriguez-Rojas, Department of Human Genetics, Fundación Valle del Lili, Cali, 760032, Colombia, Email [email protected]: Protein MUTYH, encoded by the gene MUTYH, is an important mismatch repair enzyme in the base-excision repair pathway of DNA repair. When genetically altered, different neoplastic conditions can arise. One of the widely known syndromes associated with MUTYH mutations is MUTYH-associated polyposis, a form of familial colorectal cancer syndrome. MUTYH may also be a driver in other familial cancer syndromes, as well as breast cancer and spontaneous cancer cases. However, some controversies about the role of these alterations in oncogenesis remain, especially when affected in a heterozygous way. Most available data on MUTYH mutations are on Caucasian patients.Material and Methods: We analyzed a small cohort of non-Caucasian, Colombian cancer patients with MUTYH germline heterozygous mutations, clinical features suggestive of familial cancer, and extensive genetic studies with no other mutations and without MUTYH-associated polyposis.Conclusion: With this case series, we intended to provide important data for the understanding of MUTYH as a possible driver of familial cancer, even when only heterozygous mutations are found.Keywords: MUTYH mutations, familial cancer, heterozygote MUTYH mutation, Colombia

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