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Padua-Bracho, Alejandra; Velázquez-Aragón, José A.; Fragoso-Ontiveros, Verónica; Nuñez-Martínez, Paulina María; Mejía Aguayo, María de la Luz; Sánchez-Contreras, Yuliana; Ramirez-Otero, Miguel Angel; De la Fuente-Hernández, Marcela Angélica; Vidal-Millán, Silvia; Wegman-Ostrosky, Talia; Pedroza-Torres, Abraham; Arriaga-Canon, Cristian; Herrera-Montalvo, Luis A.; Alvarez-Gómez, Rosa Maria

A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population

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  • Medientyp: E-Artikel
  • Titel: A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population
  • Beteiligte: Padua-Bracho, Alejandra; Velázquez-Aragón, José A.; Fragoso-Ontiveros, Verónica; Nuñez-Martínez, Paulina María; Mejía Aguayo, María de la Luz; Sánchez-Contreras, Yuliana; Ramirez-Otero, Miguel Angel; De la Fuente-Hernández, Marcela Angélica; Vidal-Millán, Silvia; Wegman-Ostrosky, Talia; Pedroza-Torres, Abraham; Arriaga-Canon, Cristian; Herrera-Montalvo, Luis A.; Alvarez-Gómez, Rosa Maria
  • Erschienen: MDPI AG, 2022
  • Erschienen in: International Journal of Molecular Sciences
  • Sprache: Englisch
  • DOI: 10.3390/ijms231911549
  • ISSN: 1422-0067
  • Schlagwörter: Inorganic Chemistry ; Organic Chemistry ; Physical and Theoretical Chemistry ; Computer Science Applications ; Spectroscopy ; Molecular Biology ; General Medicine ; Catalysis
  • Entstehung:
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  • Beschreibung: <jats:p>Lynch syndrome (LS) is the main hereditary colorectal cancer syndrome. There have been few reports regarding the clinical and molecular characteristics of LS patients in Latin America; this is particularly true in the Mexican population, where no information is available. The present study aims to describe the clinical and molecular spectrum of variants in a cohort of patients diagnosed with LS in Mexico. We present a retrospective analysis of 412 patients with suspected LS, whose main site of cancer diagnosis was the colon (58.25%), followed by the endometrium (18.93%). Next-generation sequencing analysis, with an extensive multigene panel, showed that 27.1% (112/414) had a variant in one of the genes of the mismatch repair pathway (MMR); 30.4% (126/414) had a variant in non-MMR genes such as CHEK2, APC, MUTYH, BRCA1, and BRCA2; and 42.5% (176/414) had no genetic variants. Most of the variants were found in MLH1. Pathogenic variants (PVs) in MMR genes were identified in 65.7% (96/146) of the total PVs, and 34.24% (45/146) were in non-MMR genes. Molecular and clinical characterization of patients with LS in specific populations allowed personalized follow-up, with the option for targeted treatment with immune checkpoint inhibitors and the development of public health policies. Moreover, such characterization allows for family cascade testing and consequent prevention strategies.</jats:p>
  • Zugangsstatus: Freier Zugang