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CASE REPORT article

Front. Med.
Sec. Gastroenterology
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1498290
This article is part of the Research Topic Therapeutic Targets and Clinical Management of Intermediate-Advanced Gastroenterological Malignancies View all 6 articles

Case report: Exploring Lynch Syndrome through Genomic Analysis in a Mestizo Ecuadorian Patient and his Brother

Provisionally accepted
Patricia Guevara-Ramírez Patricia Guevara-Ramírez 1Viviana A. Ruiz-Pozo Viviana A. Ruiz-Pozo 1Santiago Cadena-Ullauri Santiago Cadena-Ullauri 1Elius Andrés Paz Cruz Elius Andrés Paz Cruz 1Rafael Tamayo-Trujillo Rafael Tamayo-Trujillo 1Anibal Gaviria Anibal Gaviria 2Francisco Cevallos Francisco Cevallos 2Ana Karina Zambrano Ana Karina Zambrano 1*
  • 1 Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador, Quito, Ecuador
  • 2 Hemocentro Nacional, Cruz Roja Ecuatoriana, Quito, Pichincha, Ecuador

The final, formatted version of the article will be published soon.

    Lynch Syndrome (LS) is a hereditary disorder characterized by genetic mutations in DNA mismatch repair genes, affecting approximately 0.35% of the population. LS primarily increases the risk of colorectal cancer (CRC), as well as various other cancer types like endometrial, breast, and gastric cancers. Microsatellite instability, caused by MMR gene mutations, is a key feature of LS, impacting genes such as MLH1, MSH2, MSH6, and PMS2.Pathology tests studying microsatellite instability and immunohistochemical staining are used to diagnose LS. Furthermore, next-generation sequencing (NGS) allows for a thorough investigation of cancer susceptibility genes. This approach is crucial for identifying affected individuals and managing their care effectively.This study evaluated two siblings who harbored a mutation in the MLH1 gene associated with LS. The older brother was diagnosed with CRC at 24, while the younger brother remains asymptomatic at 7 years old. Genetic testing confirmed the presence of the MLH1 mutation in both siblings. Ancestry analysis showed a mix of African, European, and Native American heritage, common among Ecuadorians. Both siblings shared a family history of cancer, suggesting hereditary factors.Treatment involved surgery and chemotherapy for the older brother, emphasizing the importance of genetic testing for siblings with a cancer family history. NGS plays a pivotal role in identifying genetic mutations and guiding treatment decisions, demonstrating its significance in managing LS and other hereditary cancers.

    Keywords: Lynch Syndrome, colorectal cancer, Genomic, ancestral, Ecuadorian

    Received: 18 Sep 2024; Accepted: 22 Nov 2024.

    Copyright: © 2024 Guevara-Ramírez, Ruiz-Pozo, Cadena-Ullauri, Paz Cruz, Tamayo-Trujillo, Gaviria, Cevallos and Zambrano. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Ana Karina Zambrano, Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador, Quito, Ecuador

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